Sample records for genetics home reference

  1. Newborn Screening: MedlinePlus Health Topic

    MedlinePlus

    ... deficiency (National Library of Medicine) Genetics Home Reference: glutaric acidemia type I (National Library of Medicine) Genetics Home Reference: glutaric acidemia type II (National Library of Medicine) Genetics ...

  2. Genetics Home Reference: ornithine translocase deficiency

    MedlinePlus

    ... Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X. J Hum Genet. ... M, Fariello G, Dionisi-Vici C. Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria ... Bulletins Genetics Home Reference Celebrates Its ...

  3. Genetics Home Reference: nonsyndromic hearing loss

    MedlinePlus

    ... Centre for Genetics Education (Australia) Disease InfoSearch: Deafness Harvard Medical School Center for Hereditary Deafness Hereditary Hearing ... Available from http://www.ncbi.nlm.nih.gov/books/NBK1434/ Citation on ... Bulletins Genetics Home Reference Celebrates Its 15th Anniversary ...

  4. Genetics Home Reference: congenital dyserythropoietic anemia

    MedlinePlus

    ... E. Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term ... Konen O, Yaniv I, Delaunay J. Clinical and molecular variability in congenital dyserythropoietic anaemia type I. ... Bulletins Genetics Home Reference Celebrates Its ...

  5. Genetics Home Reference: lactose intolerance

    MedlinePlus

    ... or Free article on PubMed Central Järvelä IE. Molecular genetics of adult-type hypolactasia. Ann Med. 2005;37( ... Citation on PubMed Robayo-Torres CC, Nichols BL. Molecular differentiation of congenital lactase ... Bulletins Genetics Home Reference Celebrates Its ...

  6. Genetics Home Reference: carnitine palmitoyltransferase II deficiency

    MedlinePlus

    ... Zierz S. Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. Arch Neurol. 2005 Jan; ... K, Hermann T, Zierz S. Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 ... Bulletins Genetics Home Reference Celebrates Its ...

  7. Genetics Home Reference: T-cell immunodeficiency, congenital alopecia, and nail dystrophy

    MedlinePlus

    ... complex aspects of novel immunodeficiencies from the human equivalent of the nude/SCID phenotype. J Hematother Stem ... Home Reference Celebrates Its 15th Anniversary Genetic Information Non-Discrimination Act (GINA) Turns 10 July is National ...

  8. Genetics Home Reference: ethylmalonic encephalopathy

    MedlinePlus

    ... Tiranti V, Zeviani M. Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy. Cold Spring Harb Perspect Biol. 2013 Jan 1;5(1):a011437. doi: 10.1101/cshperspect.a011437. Review. Citation on PubMed or Free article on PubMed Central More from Genetics Home Reference ...

  9. Genetics Home Reference: lymphangioleiomyomatosis

    MedlinePlus

    ... Genetics Share: Email Facebook Twitter Home Health Conditions LAM Lymphangioleiomyomatosis Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Lymphangioleiomyomatosis ( LAM ) is a condition that affects the lungs , the ...

  10. Genetics Home Reference: keratoconus

    MedlinePlus

    ... Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Home Health Conditions Keratoconus Keratoconus Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Keratoconus ...

  11. Genetics Home Reference: Leydig cell hypoplasia

    MedlinePlus

    ... Twitter Home Health Conditions Leydig cell hypoplasia Leydig cell hypoplasia Printable PDF Open All Close All Enable ... consumer genetic testing? What are genome editing and CRISPR-Cas9? What is precision medicine? What is newborn ...

  12. Genetics Home Reference: Pompe disease

    MedlinePlus

    ... Genetic Testing (2 links) Genetic Testing Registry: Glycogen storage disease type II, infantile Genetic Testing Registry: Glycogen storage disease, type II Other Diagnosis and Management Resources ( ...

  13. Genetics Home Reference: SADDAN

    MedlinePlus

    ... CLOSE navigation Home Page Search Home Health ... delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with this ...

  14. How Are Genetic Conditions Diagnosed?

    MedlinePlus

    ... Consultation How are genetic conditions diagnosed? How are genetic conditions diagnosed? A doctor may suspect a diagnosis ... and advocacy resources. For more information about diagnosing genetic conditions: Genetics Home Reference provides information about genetic ...

  15. Genetics Home Reference: hypercholesterolemia

    MedlinePlus

    ... factors that impact cholesterol levels include a person's gender, age, and health problems such as diabetes and ... Reference Celebrates Its 15th Anniversary Genetic Information Non-Discrimination Act (GINA) Turns 10 All Bulletins Features What ...

  16. Genetics Home Reference: Klinefelter syndrome

    MedlinePlus

    ... AS, Gillam L. Thinking outside the square: considering gender in Klinefelter syndrome and 47, XXY. Int J ... Reference Celebrates Its 15th Anniversary Genetic Information Non-Discrimination Act (GINA) Turns 10 All Bulletins Features What ...

  17. Genetics Home Reference: Paget disease of bone

    MedlinePlus

    ... genetic cause of classic Paget disease of bone , accounting for 10 to 50 percent of cases that ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (6 links) Genetic Testing Registry: ...

  18. Genetics Home Reference: familial hypertrophic cardiomyopathy

    MedlinePlus

    ... Savithri GR, Kumar MS, Narasimhan C, Nallari P. Molecular genetics of familial hypertrophic cardiomyopathy (FHC). J Hum Genet. ... 5(11):747. Citation on PubMed Kimura A. Molecular genetics and pathogenesis of cardiomyopathy. J Hum Genet. 2016 ...

  19. Genetics Home Reference: myasthenia gravis

    MedlinePlus

    ... ventilation assistance. This respiratory failure, called a myasthenic crisis, may be triggered by stresses such as infections ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (2 links) Genetic Testing Registry: ...

  20. Genetics Home Reference: hereditary angioedema

    MedlinePlus

    ... 000 people. Type I is the most common, accounting for 85 percent of cases. Type II occurs ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (3 links) Genetic Testing Registry: ...

  1. Genetics Home Reference: multiminicore disease

    MedlinePlus

    ... are less common than the classic form, together accounting for about 25 percent of all cases. The ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (5 links) Genetic Testing Registry: ...

  2. Genetics Home Reference: Alexander disease

    MedlinePlus

    ... the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency The prevalence of Alexander disease ... Degenerative Nerve Diseases Health Topic: Leukodystrophies Genetic and Rare Diseases Information Center (1 link) Alexander disease Additional NIH ...

  3. Genetics Home Reference: Gillespie syndrome

    MedlinePlus

    ... the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency The prevalence of Gillespie syndrome ... Developmental Disabilities Health Topic: Eye Diseases Genetic and Rare Diseases Information Center (1 link) Gillespie syndrome Educational Resources ( ...

  4. Genetics Home Reference: recurrent hydatidiform mole

    MedlinePlus

    ... Rashid Y, Sheridan E, Bonthron DT. Genetic and epigenetic analysis of recurrent hydatidiform mole. Hum Mutat. 2009 ... on PubMed Nguyen NM, Slim R. Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic ...

  5. Genetics Home Reference: combined pituitary hormone deficiency

    MedlinePlus

    ... the most common known cause of this disorder, accounting for an estimated 12 to 55 percent of ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (7 links) Genetic Testing Registry: ...

  6. Genetics Home Reference: familial isolated pituitary adenoma

    MedlinePlus

    ... 1,000 people. FIPA, though, is quite rare, accounting for approximately 2 percent of pituitary adenomas. More ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  7. A missing ancestry - Genetic Testing | NIH MedlinePlus the Magazine

    MedlinePlus

    ... Testing - From Genetics Home Reference: the benefits, costs, risks, and limitations of genetic testing Genetic Testing Registry -A publicly funded medical genetics information resource developed for physicians, other health care providers, and researchers MedlinePlus — Genetic Testing CLINSEQ®: ...

  8. Genetics Home Reference: megalencephaly-capillary malformation syndrome

    MedlinePlus

    ... the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency The prevalence of MCAP is ... Brain Malformations Health Topic: Vascular Diseases Genetic and Rare Diseases Information Center (1 link) Megalencephaly-capillary malformation syndrome ...

  9. Genetics Home Reference: Boucher-Neuhäuser syndrome

    MedlinePlus

    ... the cerebellum ). Affected individuals have an unsteady walking style (gait) and frequent falls. Another key feature of ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  10. A Diagnosis of Lynch Syndrome - Genetic Testing | NIH MedlinePlus the Magazine

    MedlinePlus

    ... Testing - From Genetics Home Reference: the benefits, costs, risks, and limitations of genetic testing Genetic Testing Registry -A publicly funded medical genetics information resource developed for physicians, other health care providers, and researchers MedlinePlus — Genetic Testing CLINSEQ®: ...

  11. Genetics Home Reference: argininosuccinic aciduria

    MedlinePlus

    ... Aciduria MalaCards: argininosuccinic aciduria Orphanet: Argininosuccinic aciduria Screening, Technology and Research in Genetics Vanderbilt Children's Hospital (PDF) Virginia Department of Health (PDF) Patient ...

  12. Genetics Home Reference: adiposis dolorosa

    MedlinePlus

    ... are some genetic conditions more common in particular ethnic groups? Genetic Changes The cause of adiposis dolorosa is unknown. The condition is thought to have a genetic component because a few families with multiple affected family members have been reported. ...

  13. Genetics Home Reference: Williams syndrome

    MedlinePlus

    ... Berman KF. Neural correlates of genetically abnormal social cognition in Williams syndrome. Nat Neurosci. 2005 Aug;8( ... syndrome: a unique window to genetic influences on cognition and behaviour. Nat Rev Neurosci. 2006 May;7( ...

  14. Genetics Home Reference: Blau syndrome

    MedlinePlus

    ... inherited version of the disorder called early-onset sarcoidosis. Related Information What does it mean if a ... Genetic Testing Registry: Blau syndrome Genetic Testing Registry: Sarcoidosis, early-onset Other Diagnosis and Management Resources (2 ...

  15. Genetics Home Reference: Jacobsen syndrome

    MedlinePlus

    ... varies among affected individuals, with most affected people missing 5 million to 16 million DNA building blocks ( ... translocation can have a chromosomal rearrangement with some missing genetic material and some extra genetic material. Individuals ...

  16. Genetics Home Reference: Feingold syndrome

    MedlinePlus

    ... Brunner HG. Feingold syndrome: clinical review and genetic mapping. Am J Med Genet A. 2003 Nov 1; ... Brunner HG. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat ...

  17. Genetics Home Reference: prostate cancer

    MedlinePlus

    ... prostate cancer Genetic Testing Registry: Prostate cancer aggressiveness quantitative trait locus on chromosome 19 Genetic Testing Registry: ... OMIM (25 links) PROSTATE CANCER PROSTATE CANCER AGGRESSIVENESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19 PROSTATE CANCER ANTIGEN ...

  18. Genetics Home Reference: 3q29 microduplication syndrome

    MedlinePlus

    ... 3q29 Related Information How are genetic conditions and genes named? Additional Information & Resources MedlinePlus (3 links) Encyclopedia: Microcephaly Encyclopedia: Obesity Health Topic: Developmental Disabilities Genetic and Rare Diseases ...

  19. Genetics Home Reference: 21-hydroxylase deficiency

    MedlinePlus

    ... Urinary Tract Defects Orphanet: Congenital adrenal hyperplasia Screening, Technology, and Research in Genetics (PDF) Vanderbilt Childrens Hospital: Congenital Adrenal Hyperplasia (PDF) Virginia Department of ...

  20. Genetics Home Reference: renal tubular dysgenesis

    MedlinePlus

    ... genetic condition? Genetic and Rare Diseases Information Center Frequency Renal tubular dysgenesis is a rare disorder, but ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  1. Genetics Home Reference: atelosteogenesis type 3

    MedlinePlus

    ... in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr; ... Celebrates Its 15th Anniversary Genetic Information Non-Discrimination Act (GINA) Turns 10 All Bulletins Features What is ...

  2. Genetics Home Reference: boomerang dysplasia

    MedlinePlus

    ... in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr; ... Celebrates Its 15th Anniversary Genetic Information Non-Discrimination Act (GINA) Turns 10 All Bulletins Features What is ...

  3. Genetics Home Reference: atelosteogenesis type 1

    MedlinePlus

    ... in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr; ... Celebrates Its 15th Anniversary Genetic Information Non-Discrimination Act (GINA) Turns 10 All Bulletins Features What is ...

  4. Genetics Home Reference: deoxyguanosine kinase deficiency

    MedlinePlus

    ... the mitochondrial respiratory chain in patients with hepatic involvement. Mol Genet Metab. 2005 Dec;86(4):462-5. Epub 2005 Nov 2. ... What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  5. Genetics Home Reference: craniometaphyseal dysplasia

    MedlinePlus

    ... Passos-Bueno MR. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. Am J Med Genet. 2000 Dec ...

  6. Genetics Home Reference: mitochondrial complex III deficiency

    MedlinePlus

    ... DNA packaged in chromosomes within the cell nucleus (nuclear DNA). It is not clear why the severity ... deficiency Genetic Testing Registry: Mitochondrial complex III deficiency, nuclear type 2 Genetic Testing Registry: Mitochondrial complex III ...

  7. Genetics Home Reference: Rubinstein-Taybi syndrome

    MedlinePlus

    ... Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJ. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation ... JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations ...

  8. Genetics Home Reference: congenital diaphragmatic hernia

    MedlinePlus

    ... Tibboel D, de Klein A, Lee B, Scott DA. Genetic factors in congenital diaphragmatic hernia. Am J ... 2009.08.004. Review. Citation on PubMed Scott DA. Genetics of congenital diaphragmatic hernia. Semin Pediatr Surg. ...

  9. Genetics Home Reference: Woodhouse-Sakati syndrome

    MedlinePlus

    ... low amounts of hormones that direct sexual development (hypogonadism), which typically becomes apparent during adolescence. Without hormone ... Resources Genetic Testing (1 link) Genetic Testing Registry: Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities ...

  10. Genetics Home Reference: Leber hereditary optic neuropathy

    MedlinePlus

    ... What is the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency The prevalence of LHON in ... Nerve Disorders Health Topic: Vision Impairment and Blindness Genetic and Rare Diseases Information Center (1 link) Leber hereditary optic neuropathy ...

  11. Genetics Home Reference: Leber congenital amaurosis

    MedlinePlus

    ... FP, van den Hurk JA, den Hollander AI. Molecular genetics of Leber congenital amaurosis. Hum Mol Genet. 2002 ... J. Leber congenital amaurosis: comprehensive survey of the genetic ... as a strategy for molecular diagnosis. Hum Mutat. 2004 Apr;23(4):306- ...

  12. Genetics Home Reference: Fryns syndrome

    MedlinePlus

    ... are some genetic conditions more common in particular ethnic groups? Genetic Changes The cause of Fryns syndrome is unknown. The disorder is thought to be genetic because it tends to run in families and has features similar to those of other ...

  13. Genetics Home Reference: Meige disease

    MedlinePlus

    ... are some genetic conditions more common in particular ethnic groups? Genetic Changes The cause of Meige disease is unknown. The condition is thought to be genetic because it tends to run in families, and other forms of primary lymphedema have been ...

  14. Genetics Home Reference: macrozoospermia

    MedlinePlus

    ... Encyclopedia: Semen Analysis MedlinePlus Health Topic: Assisted Reproductive Technology General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and ...

  15. Genetics Home Reference: glucose-6-phosphate dehydrogenase deficiency

    MedlinePlus

    ... eating fava beans or inhaling pollen from fava plants (a reaction called favism). Glucose-6-phosphate dehydrogenase ... the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency An estimated 400 million ...

  16. Genetics Home Reference: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

    MedlinePlus

    ... feelings of intense happiness (euphoria), a loss of inhibition, and poor concentration. These neurologic changes cause significant ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  17. Genetics Home Reference: Fanconi anemia

    MedlinePlus

    ... D1 Genetic Testing Registry: Fanconi anemia, complementation group D2 Genetic Testing Registry: Fanconi anemia, complementation group E ... ANEMIA, COMPLEMENTATION GROUP D1 FANCONI ANEMIA, COMPLEMENTATION GROUP D2 FANCONI ANEMIA, COMPLEMENTATION GROUP E FANCONI ANEMIA, COMPLEMENTATION ...

  18. Genetics Home Reference: esophageal atresia/tracheoesophageal fistula

    MedlinePlus

    ... are some genetic conditions more common in particular ethnic groups? Genetic Changes Isolated EA/TEF is considered to be a multifactorial condition, which means that multiple gene variations and environmental factors likely contribute to its occurrence. ...

  19. Genetics Home Reference: chronic atrial and intestinal dysrhythmia

    MedlinePlus

    ... for This Condition CAID cohesinopathy affecting heart and gut rhythm Related Information How are genetic conditions and ... SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. Nat Genet. 2014 Nov;46(11):1245- ...

  20. Genetics Home Reference: pseudoxanthoma elasticum

    MedlinePlus

    ... Neldner KH, Lindpaintner K, Richards RI, Struk B. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations ... on PubMed Ringpfeil F, Pulkkinen L, Uitto J. Molecular genetics of pseudoxanthoma elasticum. Exp Dermatol. 2001 Aug;10( ...

  1. Genetics Home Reference: fragile X syndrome

    MedlinePlus

    ... Citation on PubMed Koukoui SD, Chaudhuri A. Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome. Brain ... GJ, Dictenberg J. The fragile X syndrome: from molecular genetics to neurobiology. Ment Retard Dev Disabil Res Rev. ...

  2. Genetics Home Reference: pachyonychia congenita

    MedlinePlus

    ... CD, Eliason MJ, Smith FJ. The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol. 2011 ... ME, McLean WH, Sprecher E, Smith FJ. The molecular genetic analysis of the expanding pachyonychia congenita case collection. ...

  3. Genetics Home Reference: isolated lissencephaly sequence

    MedlinePlus

    ... This Page Dobyns WB. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. Epilepsia. 2010 ... Feb 23. Review. Citation on PubMed Liu JS. Molecular genetics of neuronal migration disorders. Curr Neurol Neurosci Rep. ...

  4. Genetics Home Reference: Peters anomaly

    MedlinePlus

    ... eye (cornea). During development of the eye, the elements of the anterior segment form separate structures. However, ... are some genetic conditions more common in particular ethnic groups? Genetic Changes Mutations in the FOXC1 , PAX6 , PITX2 , ...

  5. Genetics Home Reference: complement component 8 deficiency

    MedlinePlus

    ... in people with Hispanic, Japanese, or African Caribbean heritage, whereas type II primarily occurs in people of Northern European descent. Related Information What information about a genetic condition can statistics provide? Why are some genetic ...

  6. Genetics Home Reference: hyperprolinemia

    MedlinePlus

    ... Hyperprolinemia type 1 Orphanet: Hyperprolinemia type 2 Screening, Technology and Research in Genetics Patient Support and Advocacy Resources (3 links) Children Living with Inherited Metabolic Diseases National Organization for ...

  7. Genetics Home Reference: schizophrenia

    MedlinePlus

    ... Share: Email Facebook Twitter Home Health Conditions Schizophrenia Schizophrenia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Schizophrenia is a brain disorder classified as a psychosis, ...

  8. Genetics Home Reference: shingles

    MedlinePlus

    ... Aftercare MedlinePlus Encyclopedia: Shingles National Health Service (UK): Post-Herpetic Neuralgia Treatment General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and ...

  9. Genetics Home Reference: familial hyperaldosteronism

    MedlinePlus

    ... common variety. All types of familial hyperaldosteronism combined account for fewer than 1 out of 10 cases of hyperaldosteronism. Related Information What information about a genetic condition can statistics ...

  10. Genetics Home Reference: purine nucleoside phosphorylase deficiency

    MedlinePlus

    ... 70 affected individuals have been identified. This disorder accounts for approximately 4 percent of all SCID cases. Related Information What information about a genetic condition can statistics ...

  11. Genetics Home Reference: hypermethioninemia

    MedlinePlus

    ... Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency Screening, Technology and Research in Genetics Patient Support and Advocacy Resources (1 link) Children Living with Inherited Metabolic Diseases Scientific Articles on ...

  12. Genetics Home Reference: Meesmann corneal dystrophy

    MedlinePlus

    ... Smith FJ, Rochels R, Uitto J, McLEAN WH. Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations ... Free article on PubMed Central Smith F. The molecular genetics of keratin disorders. Am J Clin Dermatol. 2003; ...

  13. Genetics Home Reference: junctional epidermolysis bullosa

    MedlinePlus

    ... PubMed Pulkkinen L, Uitto J. Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol. 1999 Feb;18( ... Sadowski S, Pfendner E, Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med ...

  14. Genetics Home Reference: dentatorubral-pallidoluysian atrophy

    MedlinePlus

    ... Kawashima M, Tanaka F, Adachi H, Sobue G. Molecular genetics and biomarkers of polyglutamine diseases. Curr Mol Med. ... PubMed Tsuji S. Dentatorubral-pallidoluysian atrophy: clinical aspects and molecular genetics. Adv Neurol. 2002;89:231-9. Review. Citation ...

  15. Genetics Home Reference: cystic fibrosis

    MedlinePlus

    ... Foundation) Genetic Testing (1 link) Genetic Testing Registry: Cystic fibrosis Other Diagnosis and Management Resources (5 links) American Society for Reproductive Medicine: Male Infertility Baby's First Test GeneReview: Cystic Fibrosis and Congenital Absence of the Vas Deferens Genomics ...

  16. Genetics Home Reference: Li-Fraumeni syndrome

    MedlinePlus

    ... are some genetic conditions more common in particular ethnic groups? Genetic Changes The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome . More than half of all families with Li-Fraumeni syndrome have inherited mutations in ...

  17. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

    ... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

  18. Genetics Home Reference: cap myopathy

    MedlinePlus

    ... Email Facebook Twitter Home Health Conditions Cap myopathy Cap myopathy Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Cap myopathy is a disorder that primarily affects skeletal ...

  19. Genetics Home Reference: cyclic neutropenia

    MedlinePlus

    ... Facebook Twitter Home Health Conditions Cyclic neutropenia Cyclic neutropenia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Cyclic neutropenia is a disorder that causes frequent infections and ...

  20. Genetics Home Reference: clopidogrel resistance

    MedlinePlus

    ... Email Facebook Twitter Home Health Conditions Clopidogrel resistance Clopidogrel resistance Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Clopidogrel resistance is a condition in which the drug ...

  1. Genetics Home Reference: alpha thalassemia

    MedlinePlus

    ... Facebook Twitter Home Health Conditions Alpha thalassemia Alpha thalassemia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Alpha thalassemia is a blood disorder that reduces the production ...

  2. Genetics Home Reference: beta thalassemia

    MedlinePlus

    ... Facebook Twitter Home Health Conditions Beta thalassemia Beta thalassemia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Beta thalassemia is a blood disorder that reduces the production ...

  3. Genetics Home Reference: JAK3-deficient severe combined immunodeficiency

    MedlinePlus

    ... of a genetic condition? Genetic and Rare Diseases Information Center Frequency JAK3 -deficient SCID accounts for an estimated 7 to 14 percent of cases of SCID. The prevalence of SCID from all genetic causes combined is approximately 1 in ... Information What information about a genetic condition can statistics ...

  4. Genetics Home Reference: sick sinus syndrome

    MedlinePlus

    ... of a genetic condition? Genetic and Rare Diseases Information Center Frequency Sick sinus syndrome accounts for 1 in 600 patients with heart disease who are over age 65. The incidence of this condition increases with age. Related Information What information about a genetic condition can statistics ...

  5. Genetics Home Reference: tetrasomy 18p

    MedlinePlus

    ... parental origin and different mechanisms of formation. Eur J Hum Genet. 1996;4(3):160-7. Erratum in: Eur J Hum Genet 1996;4(5):291. Citation on ... paraplegia as a feature of tetrasomy 18p. Am J Med Genet A. 2010 Sep;152A(9):2173- ...

  6. Genetics Home Reference: nonsyndromic aplasia cutis congenita

    MedlinePlus

    ... are some genetic conditions more common in particular ethnic groups? Genetic Changes Nonsyndromic aplasia cutis congenita can have different causes, and often the cause is unknown. Because the condition is sometimes found in multiple members of a family, it is thought to have a genetic component; ...

  7. Genetics Home Reference: retinoblastoma

    MedlinePlus

    ... children per year in the United States. It accounts for about 4 percent of all cancers in children younger than 15 years. Related Information What information about a genetic condition can statistics ...

  8. Genetics Home Reference: spastic paraplegia type 7

    MedlinePlus

    ... 000 people worldwide. Spastic paraplegia type 7 likely accounts for only a small percentage of all spastic paraplegia cases. Related Information What information about a genetic condition can statistics ...

  9. Genetics Home Reference: spastic paraplegia type 2

    MedlinePlus

    ... 000 people worldwide. Spastic paraplegia type 2 likely accounts for only a small percentage of all spastic paraplegia cases. Related Information What information about a genetic condition can statistics ...

  10. Genetics Home Reference: uromodulin-associated kidney disease

    MedlinePlus

    ... of uromodulin-associated kidney disease is unknown. It accounts for fewer than 1 percent of cases of kidney disease. Related Information What information about a genetic condition can statistics ...

  11. Genetics Home Reference: spastic paraplegia type 8

    MedlinePlus

    ... 000 people worldwide. Spastic paraplegia type 8 likely accounts for only a small percentage of all spastic paraplegia cases. Related Information What information about a genetic condition can statistics ...

  12. Genetics Home Reference: Andersen-Tawil syndrome

    MedlinePlus

    ... medical literature. Researchers believe that Andersen-Tawil syndrome accounts for less than 10 percent of all cases of periodic paralysis. Related Information What information about a genetic condition can statistics ...

  13. Genetics Home Reference: Lyme disease

    MedlinePlus

    ... condition can statistics provide? Why are some genetic conditions more common in particular ethnic ... is influenced by a variety of lifestyle and environmental factors that reflect how likely a person is ...

  14. Genetics Home Reference

    MedlinePlus

    ... information about the effects of genetic variation on human health. Health Conditions More than 1,200 health conditions, diseases, and syndromes Browse A–Z Genes More than 1,400 genes and the health ...

  15. Genetics Home Reference: carnitine-acylcarnitine translocase deficiency

    MedlinePlus

    ... translocase deficiency Orphanet: Carnitine-acylcarnitine translocase deficiency Screening, Technology, and Research in Genetics Patient Support and Advocacy Resources (3 links) Children Living with Inherited Metabolic Diseases (CLIMB) FOD (Fatty ...

  16. Genetics Home Reference: N-acetylglutamate synthase deficiency

    MedlinePlus

    ... Hyperammonemia due to N-acetylglutamate synthase deficiency Screening, Technology and Research in Genetics Patient Support and Advocacy Resources (4 links) Children Living with Inherited Metabolic Diseases National Organization for ...

  17. Genetics Home Reference: breast cancer

    MedlinePlus

    ... Email Facebook Twitter Home Health Conditions Breast cancer Breast cancer Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Breast cancer is a disease in which certain cells in ...

  18. Genetics Home Reference: uncombable hair syndrome

    MedlinePlus

    ... Twitter Home Health Conditions Uncombable hair syndrome Uncombable hair syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Uncombable hair syndrome is a condition that is characterized by ...

  19. Genetics Home Reference: cartilage-hair hypoplasia

    MedlinePlus

    ... Twitter Home Health Conditions Cartilage-hair hypoplasia Cartilage-hair hypoplasia Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Cartilage-hair hypoplasia is a disorder of bone growth characterized ...

  20. Genetics Home Reference: juvenile myoclonic epilepsy

    MedlinePlus

    ... Home Health Conditions Juvenile myoclonic epilepsy Juvenile myoclonic epilepsy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). ...

  1. Genetics Home Reference: pyridoxine-dependent epilepsy

    MedlinePlus

    ... Home Health Conditions Pyridoxine-dependent epilepsy Pyridoxine-dependent epilepsy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in ...

  2. Genetics Home Reference: Bartter syndrome

    MedlinePlus

    ... Email Facebook Twitter Home Health Conditions Bartter syndrome Bartter syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bartter syndrome is a group of very similar kidney disorders ...

  3. Genetics Home Reference: Snyder-Robinson syndrome

    MedlinePlus

    ... syndromic, snyder-robinson type Merck Manual Home Health Handbook for Patients & Caregivers: Osteoporosis Orphanet: X-linked intellectual ... in X-linked intellectual disability (Snyder-Robinson syndrome). Methods Mol Biol. 2011;720:437-45. doi: 10. ...

  4. Genetics Home Reference: Parkinson disease

    MedlinePlus

    ... Email Facebook Twitter Home Health Conditions Parkinson disease Parkinson disease Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Parkinson disease is a progressive disorder of the nervous system. ...

  5. Genetics Home Reference: retinitis pigmentosa

    MedlinePlus

    ... Email Facebook Twitter Home Health Conditions Retinitis pigmentosa Retinitis pigmentosa Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Retinitis pigmentosa is a group of related eye disorders that ...

  6. Genetics Home Reference: sporadic hemiplegic migraine

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    ... Home Health Conditions Sporadic hemiplegic migraine Sporadic hemiplegic migraine Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Sporadic hemiplegic migraine is a rare form of migraine headache. Migraines ...

  7. Genetics Home Reference: familial hemiplegic migraine

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  8. Genetics Home Reference: chronic myeloid leukemia

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    ... Home Health Conditions Chronic myeloid leukemia Chronic myeloid leukemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Chronic myeloid leukemia is a slow-growing cancer of the blood- ...

  9. Genetics Home Reference: arrhythmogenic right ventricular cardiomyopathy

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  10. Genetics Home Reference: Cole disease

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  11. Genetics Home Reference: congenital hepatic fibrosis

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    ... Home Health Conditions Congenital hepatic fibrosis Congenital hepatic fibrosis Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Congenital hepatic fibrosis is a disease of the liver that is ...

  12. Genetics Home Reference: systemic lupus erythematosus

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  13. Genetics Home Reference: white sponge nevus

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    ... Twitter Home Health Conditions White sponge nevus White sponge nevus Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description White sponge nevus is a condition characterized by the formation ...

  14. Genetics Home Reference: Turner syndrome

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  15. Genetics Home Reference: potassium-aggravated myotonia

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  16. Genetics Home Reference: pulmonary arterial hypertension

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    ... Home Health Conditions Pulmonary arterial hypertension Pulmonary arterial hypertension Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high ...

  17. Genetics Home Reference: central core disease

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    ... Twitter Home Health Conditions Central core disease Central core disease Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Central core disease is a disorder that affects muscles used ...

  18. Genetics Home Reference: Peters plus syndrome

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    ... Facebook Twitter Home Health Conditions Peters plus syndrome Peters plus syndrome Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Peters plus syndrome is an inherited condition that is ...

  19. Genetics Home Reference: Dubin-Johnson syndrome

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    ... Twitter Home Health Conditions Dubin-Johnson syndrome Dubin-Johnson syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Dubin-Johnson syndrome is a condition characterized by jaundice, which ...

  20. Genetics Home Reference: brain-lung-thyroid syndrome

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    ... Twitter Home Health Conditions Brain-lung-thyroid syndrome Brain-lung-thyroid syndrome Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Brain-lung-thyroid syndrome is a group of conditions ...

  1. Genetics Home Reference: Smith-Lemli-Opitz syndrome

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    ... Twitter Home Health Conditions Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Smith-Lemli-Opitz syndrome is a developmental disorder that ...

  2. Genetics Home Reference: rheumatoid arthritis

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    ... Email Facebook Twitter Home Health Conditions Rheumatoid arthritis Rheumatoid arthritis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Rheumatoid arthritis is a disease that causes chronic abnormal inflammation, ...

  3. Genetics Home Reference: factor V deficiency

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    ... Twitter Home Health Conditions Factor V deficiency Factor V deficiency Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Factor V deficiency is a rare bleeding disorder. The signs ...

  4. Genetics Home Reference: protein C deficiency

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  5. Genetics Home Reference: X-linked dilated cardiomyopathy

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    ... Twitter Home Health Conditions X-linked dilated cardiomyopathy X-linked dilated cardiomyopathy Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description X-linked dilated cardiomyopathy is a form of heart ...

  6. Genetics Home Reference: X-linked thrombocytopenia

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  7. Genetics Home Reference: X-linked myotubular myopathy

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  8. Genetics Home Reference: triple X syndrome

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    ... Twitter Home Health Conditions Triple X syndrome Triple X syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Triple X syndrome , also called trisomy X or 47,XXX, ...

  9. Genetics Home Reference: factor X deficiency

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    ... Twitter Home Health Conditions Factor X deficiency Factor X deficiency Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Factor X deficiency is a rare bleeding disorder that varies ...

  10. Genetics Home Reference: X-linked sideroblastic anemia

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  11. Genetics Home Reference: Kaufman oculocerebrofacial syndrome

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    ... Facebook Twitter Home Health Conditions Kaufman oculocerebrofacial syndrome Kaufman oculocerebrofacial syndrome Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Kaufman oculocerebrofacial syndrome is a disorder characterized by eye ...

  12. Genetics Home Reference: Russell-Silver syndrome

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    ... Facebook Twitter Home Health Conditions Russell-Silver syndrome Russell-Silver syndrome Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Russell-Silver syndrome is a growth disorder characterized by ...

  13. Genetics Home Reference: piebaldism

    MedlinePlus

    ... and deletions of the KIT (steel factor receptor) gene in human piebaldism. Am J Hum Genet. 1995 Jan;56( ... Sánchez-García I. Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A. 2003 Oct ...

  14. Genetics Home Reference: hand-foot-genital syndrome

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    ... article on PubMed Central Goodman FR, Scambler PJ. Human HOX gene mutations. Clin Genet. 2001 Jan;59(1):1- ... on PubMed Goodman FR. Limb malformations and the human HOX genes. Am J Med Genet. 2002 Oct 15;112( ...

  15. Genetics Home Reference: cytogenetically normal acute myeloid leukemia

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    ... on PubMed Marcucci G, Haferlach T, Döhner H. Molecular genetics of adult acute myeloid leukemia: prognostic and therapeutic ... on PubMed Sanders MA, Valk PJ. The evolving molecular genetic landscape in acute myeloid leukaemia. Curr Opin Hematol. ...

  16. Genetics Home Reference: epidermolysis bullosa with pyloric atresia

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    ... PubMed Pulkkinen L, Uitto J. Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol. 1999 Feb;18( ... Sadowski S, Pfendner E, Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med ...

  17. Genetics Home Reference: Müllerian aplasia and hyperandrogenism

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    ... are some genetic conditions more common in particular ethnic groups? Genetic Changes Mutations in the WNT4 gene cause Müllerian aplasia and hyperandrogenism . This gene belongs to a family of WNT genes that play critical roles in ...

  18. Genetics Home Reference: Bloom syndrome

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    ... are some genetic conditions more common in particular ethnic groups? Genetic Changes Mutations in the BLM gene cause Bloom syndrome . The BLM gene provides instructions for making a member of a protein family called RecQ helicases. Helicases are enzymes that attach ( ...

  19. Genetics Home Reference: neuromyelitis optica

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    ... are some genetic conditions more common in particular ethnic groups? Genetic Changes No genes associated with neuromyelitis optica have been identified. However, a small percentage of people with this condition have a family member who is also affected, which indicates that ...

  20. Genetics Home Reference: X-linked creatine deficiency

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    ... been identified. The disorder has been estimated to account for between 1 and 2 percent of males with intellectual disability. Related Information What information about a genetic condition can statistics ...

  1. Genetics Home Reference: Usher syndrome

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    ... more frequently in the Finnish population, where it accounts for about 40 percent of cases, and among people of Ashkenazi Jewish heritage. Related Information What information about a genetic condition can statistics ...

  2. Genetics Home Reference: frontotemporal dementia with parkinsonism-17

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    ... more common than this estimate. FTDP-17 probably accounts for a small percentage of all cases of frontotemporal dementia. Related Information What information about a genetic condition can statistics ...

  3. Genetics Home Reference: acute necrotizing encephalopathy type 1

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    ... the signs and symptoms of this condition. The health history of the individual, such as nutritional status and number of prior ... (1 link) Genetic Testing Registry: Encephalopathy, acute, infection- ...

  4. Genetics Home Reference: isolated hyperchlorhidrosis

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    ... loss of salt (sodium chloride or NaCl) in sweat. In particular, "hyperchlorhidrosis" refers to the high levels of chloride found in sweat, although both sodium and chloride are released. Because ...

  5. Genetics Home Reference: supravalvular aortic stenosis

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    ... Twitter Home Health Conditions Supravalvular aortic stenosis Supravalvular aortic stenosis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Supravalvular aortic stenosis (SVAS) is a heart defect that develops before ...

  6. Genetics Home Reference: spinocerebellar ataxia type 6

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    ... Twitter Home Health Conditions SCA6 Spinocerebellar ataxia type 6 Printable PDF Open All Close All Enable Javascript ... the expand/collapse boxes. Description Spinocerebellar ataxia type 6 ( SCA6 ) is a condition characterized by progressive problems ...

  7. Genetics Home Reference: factor VII deficiency

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    ... Facebook Twitter Home Health Conditions Factor VII deficiency Factor VII deficiency Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Factor VII deficiency is a rare bleeding disorder that varies ...

  8. Genetics Home Reference: familial encephalopathy with neuroserpin inclusion bodies

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    ... Home Health Conditions FENIB Familial encephalopathy with neuroserpin inclusion bodies Printable PDF Open All Close All Enable ... expand/collapse boxes. Description Familial encephalopathy with neuroserpin inclusion bodies ( FENIB ) is a disorder that causes progressive ...

  9. Genetics Home Reference: hereditary myopathy with early respiratory failure

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    ... Home Health Conditions HMERF Hereditary myopathy with early respiratory failure Printable PDF Open All Close All Enable ... expand/collapse boxes. Description Hereditary myopathy with early respiratory failure ( HMERF ) is an inherited muscle disease that ...

  10. Genetics Home Reference: X-linked severe combined immunodeficiency

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    ... Facebook Twitter Home Health Conditions X-linked SCID X-linked severe combined immunodeficiency Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description X-linked severe combined immunodeficiency (SCID) is an inherited ...

  11. Genetics Home Reference: X-linked adrenal hypoplasia congenita

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    ... Home Health Conditions X-linked adrenal hypoplasia congenita X-linked adrenal hypoplasia congenita Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description X-linked adrenal hypoplasia congenita is a disorder that ...

  12. Genetics Home Reference: X-linked chondrodysplasia punctata 1

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  13. Genetics Home Reference: inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

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    ... condition damages parts of the brain that control reasoning, personality, social skills, speech, and language. Personality changes, ... Clearinghouse: Paget's Disease of Bone: An Endocrine Society Clinical Practice Guideline Genetic Testing (1 link) Genetic Testing ...

  14. Genetics Home Reference: trisomy 13

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    ... and review of literature. Am J Med Genet A. 2006 Jan 1;140(1):92-3. Review. Citation on PubMed Parker MJ, Budd JL, Draper ES, Young ID. Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat ...

  15. Genetics Home Reference: sialuria

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    ... inheritance of sialuria, an inborn error of feedback inhibition. Am J Hum Genet. 2001 Jun;68(6): ... Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players ...

  16. Genetics Home Reference: glycogen storage disease type IV

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    ... 000 to 800,000 individuals worldwide. Type IV accounts for roughly 3 percent of all cases of glycogen storage disease. Related Information What information about a genetic condition can statistics ...

  17. Genetics Home Reference: homocystinuria

    MedlinePlus

    ... reductase deficiency Orphanet: Homocystinuria without methylmalonic aciduria Screening, Technology, and Research in Genetics Virginia Department of Health (PDF) Patient Support and Advocacy Resources (6 links) Children Living with Inherited Metabolic Diseases (CLIMB) (UK) CLIMB: ...

  18. Genetics Home Reference: isobutyryl-CoA dehydrogenase deficiency

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    ... dehydrogenase deficiency Orphanet: Isobutyryl-CoA dehydrogenase deficiency Screening, Technology and Research in Genetics Patient Support and Advocacy Resources (3 links) Children's Cardiomyopathy Foundation CLIMB (Children Living with Inherited Metabolic ...

  19. Genetics Home Reference: congenital contractural arachnodactyly

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    ... 9 Related Information How are genetic conditions and genes named? Additional Information & Resources MedlinePlus (5 links) Encyclopedia: Arachnodactyly Encyclopedia: Contracture Deformity Encyclopedia: Skeletal Limb Abnormalities Health Topic: Connective Tissue Disorders Health ...

  20. Genetics Home Reference: hypophosphatasia

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    ... instructions for making an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP), which plays an essential role in ... area? Other Names for This Condition Deficiency of alkaline phosphatase Phosphoethanolaminuria Related Information How are genetic conditions ...

  1. Genetics Home Reference: desmosterolosis

    MedlinePlus

    ... dehydrocholesterol reductase, which is involved in the production (synthesis) of cholesterol. Cholesterol is a waxy, fat-like ... 2 links) Health Topic: Cholesterol Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 ...

  2. Genetics Home Reference: opioid addiction

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    ... disease that can cause major health, social, and economic problems. Opioids are a class of drugs that ... is likely that a combination of health, social, economic, and lifestyle factors interact with genetic factors to ...

  3. Genetics Home Reference: Muenke syndrome

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    ... Muenke syndrome Sources for This Page Agochukwu NB, Solomon BD, Muenke M. Impact of genetics on the ... Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks ...

  4. Genetics Home Reference: spastic paraplegia type 31

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    ... per 100,000 individuals. Spastic paraplegia type 31 accounts for 3 to 9 percent of all autosomal dominant hereditary spastic paraplegia cases. Related Information What information about a genetic condition can statistics ...

  5. Genetics Home Reference: Alagille syndrome

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    ... my area? Other Names for This Condition Alagille-Watson Syndrome Alagille's syndrome arteriohepatic dysplasia (AHD) cardiovertebral syndrome ... hypoplasia hepatofacioneurocardiovertebral syndrome paucity of interlobular bile ducts Watson-Miller syndrome Related Information How are genetic conditions ...

  6. Genetics Home Reference: prolidase deficiency

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    ... mutations as a tool to investigate structure-function relationship. J Hum Genet. 2004;49(9):500-6. ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  7. Krabbe disease

    MedlinePlus

    ... the amount of protein in cerebrospinal fluid (CSF) Genetic testing MRI of the head Nerve conduction velocity Testing for the GALC gene defect Treatment There is no specific ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/krabbe- ...

  8. Genetics Home Reference: malignant hyperthermia

    MedlinePlus

    ... Genetic and Rare Diseases Information Center (2 links) King Denborough syndrome Malignant hyperthermia Educational Resources (4 links) ... 19 [updated 2013 Jan 31]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean ...

  9. Genetics Home Reference: Hartnup disease

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    ... Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. Nat Genet. 2004 ... are genome editing and CRISPR-Cas9? What is precision medicine? What ...

  10. Genetics Home Reference: SCN8A-related epilepsy with encephalopathy

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    ... epilepsy with encephalopathy . This condition is estimated to account for 1 percent of all cases of epilepsy with encephalopathy. Related Information What information about a genetic condition can statistics ...

  11. Genetics Home Reference: citrullinemia

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    ... Type II MalaCards: citrullinemia, classic Orphanet: Citrullinemia Screening, Technology, and Research in Genetics Virginia Department of Health (PDF) Patient Support and Advocacy Resources (5 links) Children Living with Inherited Metabolic Diseases (CLIMB) (UK) National ...

  12. Genetics Home Reference: methylmalonic acidemia with homocystinuria

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    ... Orphanet: Methylmalonic acidemia with homocystinuria, type cblD Screening, Technology, and Research in Genetics (STAR-G) Patient Support and Advocacy Resources (3 links) Children Living with Inherited Metabolic Diseases (CLIMB) (UK) Organic ...

  13. Genetics Home Reference: bipolar disorder

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    ... with other common mental health disorders, such as schizophrenia . Understanding the genetics of bipolar disorder and other ... anxiety, and psychotic disorders (such as depression or schizophrenia ). These disorders may run in families in part ...

  14. Genetics Home Reference: Tietz syndrome

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    ... groups? Genetic Changes Tietz syndrome is caused by mutations in the MITF gene. This gene provides instructions ... development of the retinal pigment epithelium. MITF gene mutations that cause Tietz syndrome either delete or change ...

  15. Genetics Home Reference: Cushing disease

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    ... unclear, Cushing disease affects females more often than males. Related Information What information about a genetic condition ... produce cortisol may also produce increased amounts of male sex hormones (androgens), leading to hirsutism in females. ...

  16. Genetics Home Reference: Hartsfield syndrome

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    ... who have been diagnosed with this disorder are male. Related Information What information about a genetic condition ... Baumann C. Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review. Am J Med ...

  17. Genetics Home Reference: Omenn syndrome

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    ... cells attack the body's own cells and tissues, accounting for the autoimmune features of Omenn syndrome . Learn ... Immune Response Encyclopedia: Immunodeficiency Disorders Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center ( ...

  18. Genetics Home Reference: nephronophthisis

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    ... which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...

  19. Genetics Home Reference: tumor necrosis factor receptor-associated periodic syndrome

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    ... Email Facebook Twitter Home Health Conditions TRAPS Tumor necrosis factor receptor-associated periodic syndrome Printable PDF Open ... to view the expand/collapse boxes. Description Tumor necrosis factor receptor-associated periodic syndrome (commonly known as ...

  20. Genetics Home Reference: autosomal dominant partial epilepsy with auditory features

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  1. Genetics Home Reference: Senior-Løken syndrome

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    ... Facebook Twitter Home Health Conditions Senior-Løken syndrome Senior-Løken syndrome Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Senior-Løken syndrome is a rare disorder characterized by ...

  2. Genetics Home Reference: neuropathy, ataxia, and retinitis pigmentosa

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    ... Twitter Home Health Conditions NARP Neuropathy, ataxia, and retinitis pigmentosa Printable PDF Open All Close All Enable Javascript ... the expand/collapse boxes. Description Neuropathy, ataxia, and retinitis pigmentosa ( NARP ) is a condition that causes a variety ...

  3. Genetics Home Reference: hereditary leiomyomatosis and renal cell cancer

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    ... Home Health Conditions HLRCC Hereditary leiomyomatosis and renal cell cancer Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Hereditary leiomyomatosis and renal cell cancer ( HLRCC ) is a disorder in which affected individuals ...

  4. Genetics Home Reference: primary carnitine deficiency

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    ... 1 link) NIH Office of Dietary Supplements: Carnitine Educational Resources (5 links) Disease InfoSearch: Renal carnitine transport defect Orphanet: Systemic primary carnitine deficiency Screening, Technology, and Research in Genetics The Linus Pauling Institute: ...

  5. Genetics Home Reference: parathyroid cancer

    MedlinePlus

    ... one of the rarest types of cancer. It accounts for 0.005 percent of all cancers, with about 1,000 cases reported in the medical literature. Related Information What information about a genetic condition can statistics ...

  6. Genetics Home Reference: Pendred syndrome

    MedlinePlus

    ... syndrome is unknown. However, researchers estimate that it accounts for 7 to 8 percent of all hearing loss that is present from birth (congenital hearing loss). Related Information What information about a genetic condition can statistics ...

  7. Genetics Home Reference: Y chromosome infertility

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    ... deletions" of the human Y chromosome and their relationship with male infertility. J Genet Genomics. 2008 Apr; ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  8. Genetics Home Reference: congenital leptin deficiency

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    ... control sexual development. However, the specifics of this involvement and how it may be altered in congenital ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  9. Genetics Home Reference: familial erythrocytosis

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    ... tumors. Another form of acquired erythrocytosis, called polycythemia vera , results from somatic (non-inherited) mutations in other ... haematol.13250. Citation on PubMed Percy MJ, Rumi E. Genetic origins and clinical phenotype of familial and ...

  10. Genetics Home Reference: Freeman-Sheldon syndrome

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    ... the fifth finger ( ulnar deviation , also called "windmill vane hand"), and inward- and downward-turning feet ( clubfoot ). ... 2A FSS whistling face syndrome whistling face-windmill vane hand syndrome Related Information How are genetic conditions ...

  11. Genetics Home Reference: Simpson-Golabi-Behmel syndrome

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    ... Wilms tumor and a cancerous tumor called a neuroblastoma that arises from developing nerve cells. Related Information ... Heart Defects Health Topic: Craniofacial Abnormalities Health Topic: Neuroblastoma Health Topic: Wilms Tumor Genetic and Rare Diseases ...

  12. Genetics Home Reference: monoamine oxidase A deficiency

    MedlinePlus

    ... may have features of other behavioral disorders, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). ... Health Topic: Attention Deficit Hyperactivity Disorder Health Topic: Autism Spectrum Disorder Health Topic: Developmental Disabilities Genetic and ...

  13. Genetics Home Reference: ankylosing spondylitis

    MedlinePlus

    ... SUSCEPTIBILITY TO, 1 Sources for This Page Brown MA. Breakthroughs in genetic studies of ankylosing spondylitis. Rheumatology ( ... 10.1002/art.23177. Citation on PubMed Khan MA. HLA-B27 and its pathogenic role. J Clin ...

  14. Genetics Home Reference: Nager syndrome

    MedlinePlus

    ... cousin of DNA that serves as a genetic blueprint for making proteins. The spliceosomes recognize and then ... mRNA molecules that are not used in the blueprint (which are called introns ). The SAP49 protein may ...

  15. Genetics Home Reference: genitopatellar syndrome

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    ... hypoplasia, renal anomalies, facial dysmorphism, and mental retardation GPS Related Information How are genetic conditions and genes ... Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L. Genitopatellar syndrome: expanding the phenotype and excluding mutations ...

  16. Genetics Home Reference: otopalatodigital syndrome type 2

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    ... Testing (1 link) Genetic Testing Registry: Oto-palato-digital syndrome, type II Other Diagnosis and Management Resources ( ... syndrome FPO OPD syndrome, type 2 oto-palato-digital syndrome, type II Taybi syndrome Related Information How ...

  17. Genetics Home Reference: otopalatodigital syndrome type 1

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  18. Genetics Home Reference: short/branched chain acyl-CoA dehydrogenase deficiency

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    ... PDF) Orphanet: 2-methylbutyryl-CoA dehydrogenase deficiency Screening, Technology, and Research in Genetics Patient Support and Advocacy Resources (2 links) Children Living with Inherited Metabolic Diseases (CLIMB) Organic Acidemia ...

  19. Genetics Home Reference: holocarboxylase synthetase deficiency

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  20. Genetics Home Reference: 3-hydroxyacyl-CoA dehydrogenase deficiency

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    ... short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Screening, Technology and Research in Genetics (STAR-G) Patient Support and Advocacy Resources (3 links) Children Living with Inherited Metabolic Diseases (CLIMB) FOD (Fatty ...

  1. Genetics Home Reference: beta-ketothiolase deficiency

    MedlinePlus

    ... Beta Ketothiolase Deficiency Orphanet: Beta-ketothiolase deficiency Screening, Technology And Research in Genetics Virginia Department of Health (PDF) Patient Support and Advocacy Resources (2 links) Children Living with Inherited Metabolic Diseases Organic Acidemia Association ...

  2. Genetics Home Reference: short-chain acyl-CoA dehydrogenase deficiency

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    ... Orphanet: Short chain acyl-CoA dehydrogenase deficiency Screening, Technology and Research in Genetics Patient Support and Advocacy Resources (5 links) Children Living with Inherited Metabolic Disease (CLIMB) Children's Mitochondrial ...

  3. Genetics Home Reference: isovaleric acidemia

    MedlinePlus

    ... Consortium of Metabolic Programs Orphanet: Isovaleric acidemia Screening, Technology, and Research in Genetics Virginia Department of Health (PDF) Patient Support and Advocacy Resources (4 links) CLIMB (Children Living With Inherited Metabolic Diseases) (UK) National Organization ...

  4. Genetics Home Reference: propionic acidemia

    MedlinePlus

    ... Consortium of Metabolic Programs Orphanet: Propionic acidemia Screening, Technology, and Research in Genetics Virginia Department of Health (PDF) Patient Support and Advocacy Resources (6 links) CLIMB (Children Living With Inherited Metabolic Diseases) (UK) National Organization ...

  5. Genetics Home Reference: mitochondrial trifunctional protein deficiency

    MedlinePlus

    ... protein deficiency Orphanet: Mitochondrial trifunctional protein deficiency Screening, Technology, and Research in Genetics Virginia Department of Health (PDF) Patient Support and Advocacy Resources (4 links) Children Living with Inherited Metabolic Diseases (CLIMB) Children's Mitochondrial ...

  6. Genetics Home Reference: androgen insensitivity syndrome

    MedlinePlus

    ... particular ethnic groups? Genetic Changes Mutations in the AR gene cause androgen insensitivity syndrome . This gene provides ... hair growth and sex drive. Mutations in the AR gene prevent androgen receptors from working properly, which ...

  7. Genetics Home Reference: GRN-related frontotemporal dementia

    MedlinePlus

    ... temporal lobes . The frontal lobes are involved in reasoning, planning, judgment, and problem-solving, while the temporal ... MND. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain. 2008 Mar; ...

  8. Genetics Home Reference: MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

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    ... Genetic Testing Registry: Navajo neurohepatopathy Other Diagnosis and Management Resources (2 links) GeneReview: MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect The United Mitochondrial Disease Foundation: Treatments and ...

  9. Genetics Home Reference: aminoacylase 1 deficiency

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    ... Jurecka A. Aminoacylase 1 deficiency associated with autistic behavior. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S211-4. doi: ... What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  10. Genetics Home Reference: Winchester syndrome

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    ... because Winchester syndrome and MONA are caused by mutations in different genes, they are now thought to ... groups? Genetic Changes Winchester syndrome is caused by mutations in the MMP14 gene (also known as MT1- ...

  11. Genetics Home Reference: von Hippel-Lindau syndrome

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    ... more common in particular ethnic groups? Genetic Changes Mutations in the VHL gene cause von Hippel-Lindau ... dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL ...

  12. Genetics Home Reference: steatocystoma multiplex

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    ... Genetic Changes Steatocystoma multiplex can be caused by mutations in the KRT17 gene. This gene provides instructions ... skin, nails, and other tissues. The KRT17 gene mutations that cause steatocystoma multiplex alter the structure of ...

  13. Genetics Home Reference: Unverricht-Lundborg disease

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    ... more common in particular ethnic groups? Genetic Changes Mutations in the CSTB gene cause Unverricht-Lundborg disease . ... of people with Unverricht-Lundborg disease carry other mutations. The increased number of dodecamer repeats in the ...

  14. Genetics Home Reference: Stormorken syndrome

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    ... Genetic Changes Stormorken syndrome is caused by a mutation in the STIM1 gene. The protein produced from ... and division, and immune function. The STIM1 gene mutation involved in Stormorken syndrome leads to production of ...

  15. Genetics Home Reference: juvenile idiopathic arthritis

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    ... a site of injury or disease to fight microbial invaders and facilitate tissue repair. Normally, the body ... is direct-to-consumer genetic testing? What are genome editing and CRISPR-Cas9? What is precision medicine? ...

  16. Genetics Home Reference: psoriatic arthritis

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    ... a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has ... is direct-to-consumer genetic testing? What are genome editing and CRISPR-Cas9? What is precision medicine? ...

  17. Genetics Home Reference: Muckle-Wells syndrome

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    ... a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has ... is direct-to-consumer genetic testing? What are genome editing and CRISPR-Cas9? What is precision medicine? ...

  18. Genetics Home Reference: Townes-Brocks Syndrome

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    ... MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How ... JB, Wu BL, Korf BR. Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients ...

  19. Genetics Home Reference: Costello syndrome

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    ... MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How ... 44. Citation on PubMed Rauen KA. Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients ...

  20. Genetics Home Reference: Hirschsprung disease

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    ... MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How ... Patient Support and Advocacy Resources (4 links) Bowel Group for Kids International Foundation for Functional Gastrointestinal Disorders ...

  1. Genetics Home Reference: hereditary hypophosphatemic rickets

    MedlinePlus

    ... noticeable of these abnormalities are bowed legs or knock knees (a condition in which the lower legs ... Information & Resources MedlinePlus (4 links) Encyclopedia: Bowlegs Encyclopedia: Knock Knees Encyclopedia: Rickets Health Topic: Rickets Genetic and ...

  2. Hip Replacement: MedlinePlus Health Topic

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  3. Genetics Home Reference: Sézary syndrome

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    ... Bastidas Torres AN, Vermeer MH, Zoutman WH, Tensen CP, Schmidt CA. Genetic rearrangements result in altered gene ... K, Knijnenburg J, Boer JM, Willemze R, Tensen CP. Oncogenomic analysis of mycosis fungoides reveals major differences ...

  4. Genetics Home Reference: Noonan syndrome

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    ... Epub ahead of print] Citation on PubMed Kratz CP, Franke L, Peters H, Kohlschmidt N, Kazmierczak B, ... E, Rauch A, Niemeyer CM, Shannon K, Kratz CP. Germline KRAS mutations cause Noonan syndrome. Nat Genet. ...

  5. Genetics Home Reference: fumarase deficiency

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    ... C, Knape M, Zierz S, Gellerich FN. Molecular and biochemical investigations in fumarase deficiency. Mol Genet Metab. 2006 ... Y, Toulhoat H, de Lonlay P. Clinical and biochemical heterogeneity associated with fumarase deficiency. Hum Mutat. 2011 ...

  6. Genetics Home Reference: primary ciliary dyskinesia

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    ... mutations explain only 2% of primary ciliary dykinesia. Respiration. 2008;76(2):198-204. doi: 10.1159/ ... MR. Genetic causes of bronchiectasis: primary ciliary dyskinesia. Respiration. 2007;74(3):252-63. Review. Citation on ...

  7. Genetics Home Reference: warfarin resistance

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    ... J, Müller CR, Rost S, Watzka M, Bevans CG. Comparative genetics of warfarin resistance. Hamostaseologie. 2014;34(2): ... in Brazilian patients with thrombosis: a prospective cohort study. Mol Diagn Ther. 2014 Dec;18(6):675- ...

  8. Genetics Home Reference: Costeff syndrome

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    ... Foundation for the Blind Jewish Genetic Disease Consortium Organic Acidemia Association Resource List from the University of ... 1016/j.ymgme.2010.03.005. Epub 2010 Mar 16. Citation on PubMed or Free article on ...

  9. Genetics Home Reference: Potocki-Lupski syndrome

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    ... of this segment causes a related condition called Smith-Magenis syndrome .) In the remaining one-third of ... L. Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski Syndromes. J Pediatr Genet. ...

  10. Genetics Home Reference: dihydropyrimidinase deficiency

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    ... microcephaly ) and autistic behaviors that affect communication and social interaction also occur in some individuals with this condition. ... organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. Am J Hum Genet. 1998 Sep; ...

  11. Genetics Home Reference: spina bifida

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    ... PubMed or Free article on PubMed Central Bassuk AG, Kibar Z. Genetic basis of neural tube defects. ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Subscribe Customer Support USA. ...

  12. Genetics Home Reference: anencephaly

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    ... PubMed or Free article on PubMed Central Bassuk AG, Kibar Z. Genetic basis of neural tube defects. ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Subscribe Customer Support USA. ...

  13. Genetics Home Reference: distal myopathy 2

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    ... is unknown. This protein can attach to (bind) RNA, which is a chemical cousin of DNA. Some ... matrin 3 binds and stabilizes a type of RNA called messenger RNA (mRNA), which provides the genetic ...

  14. Genetics Home Reference: VLDLR-associated cerebellar hypoplasia

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    ... also been reported in families from Iran and Turkey. Related Information What information about a genetic condition ... Updated Pages Reviewed : October 2009 Published : June 19, 2018 The resources on this site should not be ...

  15. Genetics Home Reference: histidinemia

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    ... condition characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia ... Additional Information & Resources MedlinePlus (2 links) Health Topic: Amino Acid Metabolism Disorders Health Topic: Newborn Screening Genetic and ...

  16. Genetics Home Reference: WAGR syndrome

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    ... signs and symptoms of WAGR syndrome can include childhood-onset obesity, inflammation of the pancreas (pancreatitis), and kidney failure. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome. ...

  17. Genetics Home Reference: schizoaffective disorder

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    ... mental health condition that includes features of both schizophrenia and a mood disorder such as bipolar disorder ... prefix "schizo-" refers to the psychotic symptoms of schizophrenia that affect a person's thinking, sense of self, ...

  18. Genetics Home Reference: van der Woude syndrome

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    ... What is the prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 people, based on data from Europe and Asia. Van der Woude syndrome ...

  19. Genetics Home Reference: sudden infant death with dysgenesis of the testes syndrome

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    ... Facebook Twitter Home Health Conditions SIDDT Sudden infant death with dysgenesis of the testes syndrome Printable PDF ... view the expand/collapse boxes. Description Sudden infant death with dysgenesis of the testes syndrome ( SIDDT ) is ...

  20. Genetics Home Reference: X-linked hyper IgM syndrome

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    ... Home Health Conditions X-linked hyper IgM syndrome X-linked hyper IgM syndrome Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description X-linked hyper IgM syndrome is a condition that ...

  1. Genetics Home Reference: oculopharyngeal muscular dystrophy

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    ... This condition is much more common in the French-Canadian population of the Canadian province of Quebec, ... A, Perie S, Pouget J, Eymard B; Neurologists of French Neuromuscular Reference Centers CORNEMUS and FILNEMUS. Correlation between ...

  2. Genetics Home Reference: Wiskott-Aldrich syndrome

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    ... other disorders: X-linked thrombocytopenia and severe congenital neutropenia . These conditions have overlapping signs and symptoms and ... Aldrich syndrome , X-linked thrombocytopenia , and severe congenital neutropenia are sometimes collectively referred to as WAS-related ...

  3. Genetics Home Reference: autoimmune lymphoproliferative syndrome

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    ... area? Other Names for This Condition ALPS Canale-Smith syndrome Related Information How are genetic conditions and ... Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  4. Genetics Home Reference: 3-beta-hydroxysteroid dehydrogenase deficiency

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    ... Topic: Adrenal Gland Disorders Health Topic: Assisted Reproductive Technology Health Topic: Infertility Genetic and Rare Diseases Information Center (1 link) 3-beta-hydroxysteroid dehydrogenase deficiency Educational Resources (6 links) Boston Children's Hospital: Congenital Adrenal ...

  5. Genetics Home Reference: fragile X-associated primary ovarian insufficiency

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    ... a quarter of them develop the condition. FXPOI accounts for about 4 to 6 percent of all cases of primary ovarian insufficiency in women. Related Information What information about a genetic condition can statistics ...

  6. Genetics Home Reference: inherited thyroxine-binding globulin deficiency

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    ... Health Conditions Inherited thyroxine-binding globulin deficiency Inherited thyroxine-binding globulin deficiency Printable PDF Open All Close ... to view the expand/collapse boxes. Description Inherited thyroxine-binding globulin deficiency is a genetic condition that ...

  7. Genetics Home Reference: CDKL5 deficiency disorder

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    ... Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. Am J Med Genet A. 2012 Jul;158A( ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  8. Genetics Home Reference: GM3 synthase deficiency

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    ... GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first ... Testing (1 link) Genetic Testing Registry: Amish infantile epilepsy syndrome Other Diagnosis and Management Resources (2 links) ...

  9. Genetics Home Reference: malonyl-CoA decarboxylase deficiency

    MedlinePlus

    ... decarboxylase malonic aciduria malonyl-coenzyme A decarboxylase deficiency MCD deficiency Related Information How are genetic conditions and ... Morrell JC, Wanders RJ, Matalon R, Gould SJ. MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA ...

  10. Genetics Home Reference: autosomal recessive primary microcephaly

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    ... microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet. 2005 May;76( ... genome editing and CRISPR-Cas9? What is precision medicine? What is newborn screening? New Pages Alopecia areata ...

  11. Genetics Home Reference: Ghosal hematodiaphyseal dysplasia

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    ... A, Le Merrer M, Cormier-Daire V. A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34. Hum Genet. ... are genome editing and CRISPR-Cas9? What is precision medicine? What ...

  12. Genetics Home Reference: Allan-Herndon-Dudley syndrome

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    ... Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet. 2005 Jul;77(1):41-53. Epub 2005 May 11. ... are genome editing and CRISPR-Cas9? What is precision medicine? What ...

  13. Genetics Home Reference: glutaric acidemia type I

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    ... Acidemia I Orphanet: Glutaryl-CoA dehydrogenase deficiency Screening, Technology and Research in Genetics Virginia Department of Health (PDF) Patient Support and Advocacy Resources (3 links) Children Living with Inherited Metabolic Diseases (CLIMB) National Organization ...

  14. Genetics Home Reference: Waardenburg syndrome

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    ... more common in particular ethnic groups? Genetic Changes Mutations in the EDN3 , EDNRB , MITF , PAX3 , SNAI2 , and ... in the normal function of the inner ear. Mutations in any of these genes disrupt the normal ...

  15. Genetics Home Reference: triosephosphate isomerase deficiency

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    ... more common in particular ethnic groups? Genetic Changes Mutations in the TPI1 gene cause triosephosphate isomerase deficiency . ... down to produce energy for cells. TPI1 gene mutations lead to the production of unstable enzymes or ...

  16. Genetics Home Reference: 15q24 microdeletion

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    ... Genetic Changes People with a 15q24 microdeletion are missing between 1.7 million and 6.1 million ... of the deletion varies, but all individuals are missing the same 1.2 Mb region. This region ...

  17. Genetics Home Reference: mandibulofacial dysostosis with microcephaly

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    ... Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide ... patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. Am J Med Genet A. 2009 May;149A( ...

  18. Genetics Home Reference: neonatal onset multisystem inflammatory disease

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    ... a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has ... is direct-to-consumer genetic testing? What are genome editing and CRISPR-Cas9? What is precision medicine? ...

  19. Genetics Home Reference: familial cold autoinflammatory syndrome

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    ... a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this has ... is direct-to-consumer genetic testing? What are genome editing and CRISPR-Cas9? What is precision medicine? ...

  20. Genetics Home Reference: multiple epiphyseal dysplasia

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    ... MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How ... manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study. BMC Musculoskelet ...

  1. Genetics Home Reference: Zellweger spectrum disorder

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    ... that cause Zellweger spectrum disorder prevent peroxisomes from forming normally. Diseases that disrupt the formation of peroxisomes, ... 10.1002/humu.21388. Citation on PubMed Rosewich H, Ohlenbusch A, Gärtner J. Genetic and clinical aspects ...

  2. Genetics Home Reference: dopamine beta-hydroxylase deficiency

    MedlinePlus

    ... deficiency Sources for This Page Cubells JF, Zabetian CP. Human genetics of plasma dopamine beta-hydroxylase activity: ... 16. Review. Citation on PubMed Kim CH, Zabetian CP, Cubells JF, Cho S, Biaggioni I, Cohen BM, Robertson ...

  3. Genetics Home Reference: HIVEP2-related intellectual disability

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    ... to have difficulty with this activity; their walking style (gait) is often unbalanced and wide-based. Speech ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources General Information from MedlinePlus (5 links) Diagnostic ...

  4. Genetics Home Reference: non-alcoholic fatty liver disease

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    ... different populations of microorganisms in the intestines (gut microbiota) on the breakdown and absorption of nutrients are ... Nonalcoholic Fatty Liver Disease: Interplay between Diet, Gut Microbiota, and Genetic Background. Gastroenterol Res Pract. 2016;2016: ...

  5. Genetics Home Reference: pantothenate kinase-associated neurodegeneration

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    ... Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J. Genetic, clinical, and ... on PubMed Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate ...

  6. Genetics Home Reference: multiple familial trichoepithelioma

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    ... 13. Citation on PubMed Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, Celebi JT. ... Fernandez-Figueras, Maria Tereza]. Citation on PubMed Lee DA, Grossman ME, Schneiderman P, Celebi JT. Genetics of ...

  7. Genetics Home Reference: Brooke-Spiegler syndrome

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    ... article on PubMed Central Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, Celebi JT. ... 124(5):919-20. Citation on PubMed Lee DA, Grossman ME, Schneiderman P, Celebi JT. Genetics of ...

  8. Genetics Home Reference: complement factor I deficiency

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    ... F, Zelazko M, Marquart H, Muller K, Sjöholm AG, Truedsson L, Villoutreix BO, Blom AM. Genetic, molecular ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Subscribe Customer Support USA. ...

  9. Genetics Home Reference: genetic epilepsy with febrile seizures plus

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    ... one affected parent . Other cases result from new (de novo) mutations in the gene and occur in ... family. Dravet syndrome is almost always caused by de novo mutations, although it can be inherited from ...

  10. Genetics Home Reference: erythrokeratodermia variabilis et progressiva

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    ... P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J. Genetic heterogeneity in erythrokeratodermia variabilis: novel ... Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ. Mutations in the human ...

  11. Genetics Home Reference: Koolen-de Vries syndrome

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    ... of Koolen-de Vries syndrome , has undergone an inversion . An inversion involves two breaks in a chromosome; the resulting ... lineage have no health problems related to the inversion. However, genetic material can be lost or duplicated ...

  12. Genetics Home Reference: glycine encephalopathy

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    ... a molecule called glycine. This molecule is an amino acid , which is a building block of proteins. Glycine ... Additional Information & Resources MedlinePlus (3 links) Health Topic: Amino Acid Metabolism Disorders Health Topic: Genetic Brain Disorders Health ...

  13. Genetics Home Reference: glutamate formiminotransferase deficiency

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    ... two steps in the breakdown (metabolism) of the amino acid histidine, a building block of most proteins. It ... 4 links) Encyclopedia: Megaloblastic Anemia (image) Health Topic: Amino Acid Metabolism Disorders Health Topic: Genetic Brain Disorders Health ...

  14. Genetics Home Reference: phosphoglycerate mutase deficiency

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    ... PubMed Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am ... PubMed Central Tsujino S, Shanske S, Sakoda S, Toscano A, DiMauro S. Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency. ...

  15. Genetics Home Reference: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia

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    ... Share: Email Facebook Twitter Home Health Conditions XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus ... Javascript to view the expand/collapse boxes. Description X-linked immunodeficiency with magnesium defect, Epstein-Barr virus ...

  16. Genetics Home Reference: familial restrictive cardiomyopathy

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    ... the United States and in Europe, restrictive cardiomyopathy accounts for less than five percent of all cardiomyopathies. The proportion of restrictive cardiomyopathy that runs in families is not known. Related Information What information about a genetic condition can statistics ...

  17. Genetics Home Reference: 3-methylcrotonyl-CoA carboxylase deficiency

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    ... Targets Orphanet: 3-methylcrotonyl-CoA carboxylase deficiency Screening, Technology, and Research in Genetics Virginia Department of Health (PDF) Patient Support and Advocacy Resources (3 links) Children Living with Inherited Metabolic Diseases (CLIMB) (UK) Organic ...

  18. Genetics Home Reference: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

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    ... Targets Orphanet: 3-hydroxy-3-methylglutaric aciduria Screening, Technology, and Research in Genetics Virginia Department of Health (PDF) Patient Support and Advocacy Resources (3 links) Children Living with Inherited Metabolic Diseases (CLIMB) (UK) FOD ( ...

  19. Genetics Home Reference: 3q29 microdeletion syndrome

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    ... social interaction and communication), anxiety, bipolar disorder , and schizophrenia . Infants with 3q29 microdeletion syndrome often have feeding ... Bipolar Disorder Health Topic: Developmental Disabilities Health Topic: Schizophrenia Genetic and Rare Diseases Information Center (1 link) ...

  20. Genetics Home Reference: Miller syndrome

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    ... a limb bud, which grows outward. Many different proteins are involved in the normal shaping (patterning) of each limb. Once the overall pattern of a ... for This Page Biesecker LG. Exome sequencing makes medical genomics a reality. Nat Genet. 2010 ...

  1. Genetics Home Reference: isolated ectopia lentis

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    ... Ectopia lentis is a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome . Enlarge Frequency The prevalence ... 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus ...

  2. Genetics Home Reference: ovarian cancer

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    ... certain rare genetic syndromes, including a disorder called Lynch syndrome . Lynch syndrome is most often associated with mutations in the ... clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome. Obstet Gynecol ...

  3. Genetics Home Reference: adult polyglucosan body disease

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    ... This Page Klein CJ, Boes CJ, Chapin JE, Lynch CD, Campeau NG, Dyck PJ, Dyck PJ. Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. Muscle Nerve. 2004 Feb;29(2):323-8. ...

  4. Genetics Home Reference: alcohol use disorder

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    ... or Free article on PubMed Central Awofala AA. Molecular and genetic determinants of alcohol dependence. J Addict Dis. 2013; ... G, Pascale E, Lucarelli M. Alcohol addiction: a molecular biology perspective. Curr Med Chem. 2015;22(6):670- ...

  5. Genetics Home Reference: ornithine transcarbamylase deficiency

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    ... to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in ... enzyme starts a specific reaction within the urea cycle. In ornithine transcarbamylase deficiency , as its name suggests, ...

  6. Genetics Home Reference: obstructive sleep apnea

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    ... Association of genetic loci with sleep apnea in European Americans and African-Americans: the Candidate Gene Association Resource (CARe). PLoS One. 2012;7(11):e48836. doi: 10.1371/journal.pone.0048836. Epub 2012 Nov 14. Citation on ...

  7. Genetics Home Reference: gestational diabetes

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    ... 2012 Jan 10. Citation on PubMed or Free article on PubMed Central Lowe WL Jr, Scholtens DM, Sandler V, Hayes MG. Genetics of Gestational Diabetes Mellitus and Maternal Metabolism. Curr Diab Rep. 2016 Feb;16(2):15. ...

  8. Genetics Home Reference: PMM2-congenital disorder of glycosylation

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    ... vision loss. Females with PMM2 -CDG have hypergonadotropic hypogonadism, which affects the production of hormones that direct ... Additional Information & Resources MedlinePlus (3 links) Encyclopedia: Hypogonadotropic Hypogonadism Health Topic: Genetic Brain Disorders Health Topic: Metabolic ...

  9. Genetics Home Reference: aspartylglucosaminuria

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    ... PDF) Disease InfoSearch: Aspartylglucosaminuria KidsHealth: Delayed Speech or Language Development MalaCards: aspartylglucosaminuria Orphanet: Aspartylglucosaminuria Patient Support and Advocacy ...

  10. Genetics Home Reference: congenital hyperinsulinism

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    ... Hospital: Hyperinsulinism Center GeneReview: Familial Hyperinsulinism MedlinePlus Encyclopedia: Neonatal Hypoglycemia The Children's Hospital of Philadelphia: Congenital Hyperinsulinism Center ...

  11. Genetics Home Reference: distal hereditary motor neuropathy, type V

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    ... PubMed Irobi J, De Jonghe P, Timmerman V. Molecular genetics of distal hereditary motor neuropathies. Hum Mol Genet. 2004 Oct 1;13 Spec No 2:R195-202. Review. Citation on PubMed Ito D, Suzuki N. Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. ...

  12. Genetics Home Reference: congenital bilateral absence of the vas deferens

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    ... Pathway of sperm (image) Health Topic: Assisted Reproductive Technology Health Topic: Male Infertility Genetic and Rare Diseases Information Center (1 link) Congenital bilateral absence of the vas deferens Educational Resources (3 links) American Society for Reproductive Medicine: ...

  13. Genetics Home Reference: RAPADILINO syndrome

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    ... 3 links) Health Topic: Bone Diseases Health Topic: Cleft Lip and Palate Health Topic: Hand Injuries and Disorders Genetic and ... Anomaly MalaCards: rapadilino syndrome March of Dimes: Cleft Lip and Cleft Palate Orphanet: RAPADILINO syndrome Patient Support and Advocacy Resources ( ...

  14. Genetics Home Reference: Adams-Oliver syndrome

    MedlinePlus

    ... Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS. Mutations in NOTCH1 cause Adams-Oliver syndrome. Am J Hum Genet. 2014 Sep 4;95(3):275-84. doi: 10.1016/j. ...

  15. Genetics Home Reference: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

    MedlinePlus

    ... Shackleton C, Imperato-McGinley J. Mutations in CYP11B1 gene: phenotype-genotype correlations. Am J Med Genet A. 2003 Oct ... are genome editing and CRISPR-Cas9? What is precision medicine? What ...

  16. Genetics Home Reference: very long-chain acyl-CoA dehydrogenase deficiency

    MedlinePlus

    ... Very long chain acyl-CoA dehydrogenase deficiency Screening, Technology, and Research in Genetics Virginia Department of Health (PDF) Patient Support and Advocacy Resources (4 links) Children's Mitochondrial Disease Network (UK) FOD (Fatty Oxidation Disorders) ...

  17. Genetics Home Reference: long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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    ... Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Screening, Technology, and Research in Genetics Virginia Department of Health (PDF) Patient Support and Advocacy Resources (4 links) Children Living with Inherited Metabolic Diseases (CLIMB) Children's Mitochondrial ...

  18. Genetics Home Reference: Proteus syndrome

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    ... genetic mutation is known as mosaicism . The AKT1 gene helps regulate cell growth and division (proliferation) and cell death. A mutation in this gene disrupts a cell's ability to regulate its own growth, allowing it to grow and divide abnormally. Increased ...

  19. Genetics Home Reference: trichohepatoenteric syndrome

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    ... Genetic Changes Trichohepatoenteric syndrome can be caused by mutations in the TTC37 or SKIV2L gene. These genes ... and abnormal mRNA is important for cell growth. Mutations in the TTC37 or SKIV2L gene likely eliminate ...

  20. Genetics Home Reference: color vision deficiency

    MedlinePlus

    ... PROTAN SERIES TRITANOPIA Sources for This Page Deeb SS. Molecular genetics of color-vision deficiencies. Vis Neurosci. 2004 May-Jun;21(3):191-6. Review. Citation on PubMed Deeb SS. The molecular basis of variation in human color vision. Clin ...

  1. Genetics Home Reference: atypical hemolytic-uremic syndrome

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    ... Kidney Diseases: Kidney Failure: Choosing a Treatment That's Right for You Educational Resources (6 links) Disease InfoSearch: Hemolytic uremic syndrome, atypical MalaCards: genetic atypical hemolytic-uremic syndrome Merck Manual Consumer Version: Overview of Anemia Merck Manual Consumer Version: ...

  2. Genetics Home Reference: popliteal pterygium syndrome

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    ... Additional Information & Resources MedlinePlus (1 link) Health Topic: Cleft Lip and Palate Genetic and Rare Diseases Information Center (1 link) ... InfoSearch: Popliteal pterygium syndrome March of Dimes: Cleft Lip and Cleft Palate Orphanet: Popliteal pterygium syndrome Patient Support and Advocacy ...

  3. Genetics Home Reference: osteogenesis imperfecta

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    ... particular ethnic groups? Genetic Changes Mutations in the COL1A1 , COL1A2 , CRTAP , and P3H1 genes cause osteogenesis imperfecta . Mutations in the COL1A1 and COL1A2 genes are responsible for more than ...

  4. Genetics Home Reference: 5q minus syndrome

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    ... in patients with del(5q) myelodysplastic syndromes: linking mechanism of action to clinical outcomes. Ann Hematol. 2014 Jan;93( ... Celebrates Its 15th Anniversary Genetic Information Non-Discrimination Act (GINA) Turns 10 All ... is newborn screening? New Pages Lyme disease ...

  5. Genetics Home Reference: PDGFRA-associated chronic eosinophilic leukemia

    MedlinePlus

    ... area? Other Names for This Condition PDGFRA-associated myeloproliferative neoplasm Related Information How are genetic conditions and genes ... Disorders Hanns A. Pielenz Clinical Research Center for Myeloproliferative Neoplasia, MD Anderson Cancer Center ... ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific ...

  6. Genetics Home Reference: succinyl-CoA:3-ketoacid CoA transferase deficiency

    MedlinePlus

    ... more common in particular ethnic groups? Genetic Changes Mutations in the OXCT1 gene cause SCOT deficiency. The ... as during illness or when exercising. OXCT1 gene mutations result in the production of a SCOT enzyme ...

  7. Genetics Home Reference: arginine:glycine amidinotransferase deficiency

    MedlinePlus

    ... amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet. 2001 Nov;69(5):1127-33. Epub 2001 Sep 10. Citation on PubMed or Free article on PubMed Central Nasrallah F, Feki M, Kaabachi ...

  8. LEOPARD syndrome

    MedlinePlus

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  9. Genetics Home Reference: eosinophil peroxidase deficiency

    MedlinePlus

    ... an Eosinophil? International Eosinophil Society, Inc.: Patient Support Groups Rare Disease Clinical Research Network: Consortium of Eosinophil Gastrointestinal Disease Researchers Scientific Articles ...

  10. Homocystinuria

    MedlinePlus

    ... a doctor who has experience treating homocystinuria. Support Groups These resources can provide more information about homocystinuria: HCU Network America -- hcunetworkamerica.org NIH/NLM Genetics Home Reference -- ...

  11. Genetics Home Reference: Hennekam syndrome

    MedlinePlus

    ... Primary Intestinal Lymphangiectasia Information Johns Hopkins Medicine: Lymphedema Management (PDF) VascularWeb: Lymphedema General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy ...

  12. Genetics Home Reference: 17 alpha-hydroxylase/17,20-lyase deficiency

    MedlinePlus

    ... Center Frequency 17α-hydroxylase/17,20-lyase deficiency accounts for about 1 percent of congenital adrenal hyperplasia cases. It is estimated to occur in 1 in 1 million people worldwide. Related Information What information about a genetic condition can statistics ...

  13. Genetics Home Reference: bladder cancer

    MedlinePlus

    ... events in bladder tumors. Researchers believe that several genes that control cell growth and division are probably located on chromosome 9 . ... Kwast TH, Zwarthoff EC, Radvanyi F. Novel fibroblast growth factor receptor ... identified in non-lethal skeletal disorders. Eur J Hum Genet. 2002 Dec;10( ...

  14. Genetics Home Reference: congenital hemidysplasia with ichthyosiform erythroderma and limb defects

    MedlinePlus

    ... lesions. Arch Dermatol. 2006 Mar;142(3):348-51. Citation on PubMed Herman GE. Disorders of cholesterol ... Genet A. 2003 Oct 15;122A(3):246-51. Citation on PubMed Kaminska-Winciorek G, Brzezinska-Wcisło ...

  15. Genetics Home Reference: cerebral folate transport deficiency

    MedlinePlus

    ... a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet. 2009 Sep;85(3):354-63. doi: 10.1016/j.ajhg.2009.08.005. Citation on PubMed or Free article on PubMed Central Toelle SP, Wille D, Schmitt ...

  16. Genetics Home Reference: cerebrotendinous xanthomatosis

    MedlinePlus

    ... links) National Institute of Neurological Disorders and Stroke: Lipid Storage Diseases Information Page Rare Diseases Clinical Research Network: Sterol & Isopernoid Research Consortium Educational Resources (5 ...

  17. Genetics Home Reference: 2-hydroxyglutaric aciduria

    MedlinePlus

    ... Climb National Information Centre for Metabolic Diseases (UK) Organic Acidemia Association: D-2 Hydroxyglutaric Aciduria Organic Acidemia Association: L-2 Hydroxyglutaric Aciduria Resource List ...

  18. Genetics Home Reference: lattice corneal dystrophy type II

    MedlinePlus

    ... lattice corneal dystrophy type II can have a facial expression that appears sad. Related Information What does it ... links) Children's Craniofacial Association: A Guide to Understanding Facial ... pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment. Hum Mol Genet. ...

  19. Genetics Home Reference: glycogen storage disease type III

    MedlinePlus

    ... thought to lead to the production of an enzyme with reduced function. All AGL gene mutations lead to storage of ... Saltiel AR. Distinct mutations in the glycogen debranching enzyme found in glycogen ... in diverse cellular functions. Hum Mol Genet. 2009 Jun 1;18(11): ...

  20. Genetics Home Reference: medullary cystic kidney disease type 1

    MedlinePlus

    ... They lead to the production of an altered protein. It is unclear how this change causes kidney disease. ... cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013 Mar;45(3):299-303. ...

  1. Genetics Home Reference: X-linked dystonia-parkinsonism

    MedlinePlus

    ... X-linked dystonia-parkinsonism syndrome (XDP): clinical and molecular genetic analysis. Brain Pathol. 1992 Oct;2(4):287-95. Review. Citation on PubMed Kaji R, Goto S, Tamiya G, Ando S, Makino S, Lee LV. Molecular dissection and anatomical basis of dystonia: X-linked ...

  2. Lupus - resources

    MedlinePlus

    Resources - lupus ... The following organizations are good resources for information on systemic lupus erythematosus : Genetics Home Reference -- ghr.nlm.nih.gov/condition/systemic-lupus-erythematosus Lupus Foundation of America -- ...

  3. Genetics Home Reference: Laing distal myopathy

    MedlinePlus

    ... Muscular Dystrophy Association: Facts About Rare Muscular Dystrophies (PDF) Muscular Dystrophy Canada Muscular Dystrophy UK National Organization for Rare Disorders (NORD): Distal Myopathy Resource list ...

  4. Genetics Home Reference: oral-facial-digital syndrome

    MedlinePlus

    ... Orofaciodigital syndromes Additional NIH Resources (1 link) National Human Genome Research Institute Educational Resources (13 links) Disease InfoSearch: Orofaciodigital syndromes MalaCards: orofaciodigital ...

  5. Genetics Home Reference: cardiofaciocutaneous syndrome

    MedlinePlus

    ... spaced eyes ( ocular hypertelorism ), outside corners of the eyes that point downward ... cardiofaciocutaneous syndrome . Many affected people have dry, rough skin; dark-colored moles (nevi); wrinkled palms ...

  6. Genetics Home Reference: autosomal dominant hypocalcemia

    MedlinePlus

    ... imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypocalcemia also ...

  7. Genetics Home Reference: gastrointestinal stromal tumor

    MedlinePlus

    ... Treatment of Gastrointestinal Stromal Tumours (Review of NICE Technology Appraisal Guidance 196) (National Institute for Health and ... Society: Treating Gastrointestinal Stromal Tumor (GIST) Cancer.Net: Gastrointestinal ...

  8. Genetics Home Reference: myotonia congenita

    MedlinePlus

    ... Manual Consumer Version: Congenital Myopathies Orphanet: Thomsen and Becker disease Patient Support and Advocacy Resources (3 links) Muscular Dystrophy Association National Organization for Rare Disorders (NORD) Resource ...

  9. Genetics Home Reference: Caffey disease

    MedlinePlus

    ... ethnic groups? Genetic Changes A mutation in the COL1A1 gene causes Caffey disease . The COL1A1 gene provides instructions for making part of a ... form of collagen in the human body. The COL1A1 gene mutation that causes Caffey disease replaces the ...

  10. Genetics Home Reference: Yao syndrome

    MedlinePlus

    ... in more than half of affected individuals. Dry eyes and dry mouth (described as "sicca-like" symptoms, which refers to dryness) are reported in about half of people with this disease. Other potential signs and symptoms of Yao syndrome include mouth sores, chest pain, and enlargement of ...

  11. Genetics Home Reference: Tay-Sachs disease

    MedlinePlus

    ... NIH Resources (4 links) GeneEd National Human Genome Research Institute National Institute of Neurological Disorders and Stroke: Lipid Storage Diseases Fact Sheet National Institute of Neurological ...

  12. Genetics Home Reference: hereditary xanthinuria

    MedlinePlus

    ... xanthine dehydrogenase, described above, and another enzyme called aldehyde oxidase. Mutations in the MOCOS gene prevent xanthine dehydrogenase and aldehyde oxidase from being turned on (activated). The loss ...

  13. Genetics Home Reference: Amish lethal microcephaly

    MedlinePlus

    ... occurs in approximately 1 in 500 newborns in the Old Order Amish population of Pennsylvania. It has not been found outside this population. Related Information What information about a genetic condition can statistics provide? Why ... in the SLC25A19 gene cause Amish lethal microcephaly . The SLC25A19 ...

  14. Genetics Home Reference: DOORS syndrome

    MedlinePlus

    ... reduce or eliminate the function of the TBC1D24 protein, but the specific mechanism by which loss of TBC1D24 function leads to the ... RC, Gibbs RA, Lee BH, Sisodiya SM. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan;13(1):44- ...

  15. Genetics Home Reference: infantile neuroaxonal dystrophy

    MedlinePlus

    ... with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord. 2012 Jan;27(1):42-53. doi: 10.1002/mds.23971. Epub 2011 Oct 26. Review. ... Zhang Y, Xiao J, Wu X. Clinical study and PLA2G6 mutation screening analysis in Chinese ...

  16. Genetics Home Reference: hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis

    MedlinePlus

    ... which scar tissue forms in the lungs . Pulmonary fibrosis eventually causes difficulty breathing and can be life-threatening within ... Keavney B, Bézieau S, Mayosi BM. Mutations in FAM111B cause hereditary fibrosing ... myopathy, and pulmonary fibrosis. Am J Hum Genet. 2013 Dec 5;93( ...

  17. Genetics Home Reference: Dupuytren contracture

    MedlinePlus

    ... is the most common inherited disorder of connective tissue. The inheritance pattern is often unclear. Some people who inherit ... Data Bank for Rheumatic Diseases: Joining NDB Research for Dupuytren ...

  18. Genetics Home Reference: preeclampsia

    MedlinePlus

    ... and multiple births resulting from the use of assisted reproductive technologies. Related ... cases of preeclampsia occur in women with no known history of the disorder in their families, and these ...

  19. Genetics Home Reference: spondylothoracic dysostosis

    MedlinePlus

    ... the MESP2 protein is nonfunctional or absent, somite segmentation does not occur properly, which results in ... mutations occur? How can gene mutations affect health and development? More about ...

  20. Genetics Home Reference: McKusick-Kaufman syndrome

    MedlinePlus

    ... Kaufman syndrome Additional NIH Resources (1 link) National Human Genome Research Institute: Gene Linked to Developmental Syndrome in Old Order Amish Identified by NIH Scientists Educational Resources ( ...

  1. Genetics Home Reference: proopiomelanocortin deficiency

    MedlinePlus

    ... POMC deficiency, but they may have an increased risk of obesity. Related Information ... Eunice Kennedy Shriver National Institute of Child Health and Human Development: How are Obesity and Overweight ...

  2. Genetics Home Reference: MECP2-related severe neonatal encephalopathy

    MedlinePlus

    ... Johns Hopkins Children's Center: Failure to Thrive Kennedy Krieger Institute: Epilepsy (Seizure Disorder) Kennedy Krieger Institute: Intellectual Disability MalaCards: mecp2-related severe neonatal ...

  3. Genetics Home Reference: nonsyndromic congenital nail disorder 10

    MedlinePlus

    ... Nails MalaCards: nail disorder, nonsyndromic congenital, 10 Merck Manual Consumer Version: Deformities, Dystrophies, and Discoloration of the Nails Orphanet: Autosomal recessive nail dysplasia Patient Support ...

  4. Genetics Home Reference: familial idiopathic basal ganglia calcification

    MedlinePlus

    ... Children Living with Inherited Metabolic Diseases Dystonia Medical Research Foundation Family Caregiver Alliance National Ataxia Foundation National Organization for Rare Disorders (NORD) University of Kansas Medical ...

  5. Genetics Home Reference: juvenile polyposis syndrome

    MedlinePlus

    ... polyposis syndrome . These genes provide instructions for making proteins that are involved in transmitting chemical signals from the cell membrane to the nucleus . This type of signaling pathway ...

  6. Genetics Home Reference: Fabry disease

    MedlinePlus

    ... Sheet (PDF) Disease InfoSearch: Fabry Disease Emory University School of Medicine (PDF) International Center for Fabry Disease, Mount Sinai School of Medicine MalaCards: fabry disease Merck Manual Consumer ...

  7. Genetics Home Reference: blepharocheilodontic syndrome

    MedlinePlus

    ... Palate American Association of Oral and Maxillofacial Surgeons: Cleft Lip/Palate and Craniofacial Surgery MedlinePlus Encyclopedia: Cleft Lip and Palate Repair General Information from MedlinePlus (5 links) Diagnostic ...

  8. Genetics Home Reference: Warsaw breakage syndrome

    MedlinePlus

    ... helicase. Helicases are enzymes that attach (bind) to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying ( replicating ) ...

  9. Genetics Home Reference: fibromyalgia

    MedlinePlus

    ... other catastrophic events, and low job or life satisfaction have also been associated with an increased risk of fibromyalgia . Additionally, physical inactivity, obesity, and sleep disturbances seem to increase risk. However, ... & ...

  10. Genetics Home Reference: Wolf-Hirschhorn syndrome

    MedlinePlus

    ... syndrome include skin changes such as mottled or dry skin, skeletal abnormalities such as abnormal ... also cause abnormalities of the eyes, heart, genitourinary tract, and brain. A condition called ...

  11. Genetics Home Reference: globozoospermia

    MedlinePlus

    ... Other Diagnosis and Management Resources (4 links) American Society for Reproductive Medicine: Semen Analysis Centers for Disease Control: Assisted Reproductive Technology (ART) MedlinePlus Encyclopedia: Semen Analysis MedlinePlus Health Topic: ...

  12. Genetics Home Reference: mandibuloacral dysplasia

    MedlinePlus

    ... proteins act as scaffolding (supporting) components of the nuclear envelope, which is the membrane that surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and ...

  13. Genetics Home Reference: Lesch-Nyhan syndrome

    MedlinePlus

    ... Potier MC, Dauphinot L, Shirley TL, Torero-Ibad R, Fuchs J, Jinnah HA. Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease ...

  14. Genetics Home Reference: achondroplasia

    MedlinePlus

    ... pronounced and permanent sway of the lower back ( lordosis ) and bowed legs. Some affected people also develop ... MedlinePlus Encyclopedia: Achondroplasia MedlinePlus Encyclopedia: ... Spinal Stenosis General Information from MedlinePlus ( ...

  15. Genetics Home Reference: geleophysic dysplasia

    MedlinePlus

    ... Heart Institute: Valve Disease Patient Support and Advocacy Resources (6 links) Human Growth Foundation Little People of America Little People UK Resource list from the University of Kansas Medical Center: ...

  16. Genetics Home Reference: Barth syndrome

    MedlinePlus

    ... intelligence but often have difficulty performing tasks involving math or visual-spatial skills such as puzzles. Males with Barth syndrome have increased levels of a substance called 3-methylglutaconic acid in ...

  17. Genetics Home Reference: BAP1 tumor predisposition syndrome

    MedlinePlus

    ... BAP1 tumor predisposition syndrome . For example, exposure to asbestos likely contributes to the development of malignant mesothelioma. While asbestos increases the risk of malignant mesothelioma in the ...

  18. Genetics Home Reference: osteoporosis-pseudoglioma syndrome

    MedlinePlus

    ... pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment. Horm Res Paediatr. ... are genome editing and CRISPR-Cas9? What is precision medicine? What ...

  19. Genetics Home Reference: Sandhoff disease

    MedlinePlus

    ... heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease ... are genome editing and CRISPR-Cas9? What is precision medicine? What ...

  20. Genetics Home Reference: alopecia areata

    MedlinePlus

    ... areata the immune system targets hair follicles , stopping hair growth. However, the condition does not permanently damage the follicles, which is why hair may later regrow. Many of the genes that ...

  1. Genetics Home Reference: permanent neonatal diabetes mellitus

    MedlinePlus

    ... AL. Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat. 2009 Nov;30(11):1512-26. ...

  2. Using the Genetics Home Reference Website

    MedlinePlus

    ... and gene therapy. ( medlineplus.gov/genesandgenetherapy.html ) The fact sheet Gene Therapy from the U.S. Department of Energy Office of Science offers an overview of this topic. ( http://genomics. ...

  3. Genetics Home Reference: generalized arterial calcification of infancy

    MedlinePlus

    ... helps break down a molecule called adenosine triphosphate (ATP), specifically when it is found outside the cell (extracellular). Extracellular ATP is quickly broken down into other molecules called ...

  4. Genetics Home Reference: lacrimo-auriculo-dento-digital syndrome

    MedlinePlus

    ... Information Center (1 link) Lacrimo-auriculo-dento-digital syndrome Additional NIH Resources (2 links) National Eye Institute: Facts About Dry Eye National Institute of Dental and Craniofacial Research: ...

  5. Genetics Home Reference: caudal regression syndrome

    MedlinePlus

    ... the lower spine ( vertebrae ) are frequently misshapen or missing, and the corresponding sections of the spinal cord are also irregular or missing. Affected individuals may have incomplete closure of the ...

  6. Genetics Home Reference: aromatase deficiency

    MedlinePlus

    ... to impaired female sexual development, unusual bone growth, insulin resistance, and other signs and symptoms of aromatase deficiency . In women who are pregnant with an affected fetus, excess androgens in the ...

  7. Genetics Home Reference: Shwachman-Diamond syndrome

    MedlinePlus

    ... of white blood cell, causes a condition called neutropenia. Most people with Shwachman-Diamond syndrome have at least occasional episodes of neutropenia, which makes them more vulnerable to infections such ...

  8. Malignant hyperthermia

    MedlinePlus

    ... about MH: Malignant Hyperthermia Association of the United States -- www.mhaus.org National Organization for Rare Disorders -- rarediseases.org/rare-diseases/malignant-hyperthermia NIH Genetics Home Reference -- ghr.nlm.nih.gov/condition/malignant-hyperthermia

  9. Genetics Home Reference: surfactant dysfunction

    MedlinePlus

    ... Infant ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (4 links) SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 ...

  10. Genetics Home Reference: Baraitser-Winter syndrome

    MedlinePlus

    ... eyes ( hypertelorism ), large eyelid openings, droopy eyelids ( ptosis ), high-arched eyebrows , a broad nasal bridge and tip of the nose , a long space between the nose and upper lip ( philtrum ), full ...

  11. Genetics Home Reference: Denys-Drash syndrome

    MedlinePlus

    ... Related Information What does it mean if a disorder seems to run in my family? What are the different ways in which a ... Encyclopedia: Nephrotic Syndrome General Information from MedlinePlus ( ...

  12. Genetics Home Reference: pulmonary veno-occlusive disease

    MedlinePlus

    ... G, Humbert M. Pulmonary veno-occlusive disease: clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology. Medicine (Baltimore). 2008 Jul;87(4):220-33. doi: ...

  13. Genetics Home Reference: epidermolysis bullosa simplex

    MedlinePlus

    ... of epidermolysis bullosa simplex . Mutations in another gene, PLEC , have been associated with the rare Ogna type of epidermolysis bullosa simplex . The PLEC gene provides instructions for making a protein called ...

  14. Genetics Home Reference: Kawasaki disease

    MedlinePlus

    ... other factors, including changes in other genes, also influence the development of this complex disorder. ... disease appears to be passed through generations in families, but the inheritance pattern is unknown. Children of ...

  15. Genetics Home Reference: campomelic dysplasia

    MedlinePlus

    ... have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Approximately 75 percent of affected individuals with a typical male chromosome pattern (46,XY) have ambiguous genitalia or ...

  16. Genetics Home Reference: pyruvate dehydrogenase deficiency

    MedlinePlus

    ... form that cells can use. The pyruvate dehydrogenase complex converts a molecule called pyruvate, which is formed from the breakdown of carbohydrates, into another molecule called acetyl-CoA. This conversion ...

  17. Genetics Home Reference: chronic granulomatous disease

    MedlinePlus

    ... is primarily active in immune system cells called phagocytes. These cells catch and destroy foreign invaders such as bacteria and fungi. Within phagocytes, NADPH oxidase is involved in the production of ...

  18. Genetics Home Reference: megacystis-microcolon-intestinal hypoperistalsis syndrome

    MedlinePlus

    ... mice. Proc Natl Acad Sci U S A. 2017 Mar 28;114(13):E2739-E2747. doi: 10.1073/pnas.1620507114. Epub 2017 Mar 14. Citation on PubMed or Free article on ... megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Mar 27;10(3):e1004258. doi: 10.1371/journal. ...

  19. Genetics Home Reference: KBG syndrome

    MedlinePlus

    ... and 16q24.3 microdeletion. Eur J Med Genet. 2015 Feb;58(2):86-94. doi: 10.1016/j.ejmg.2014.11.003. Epub 2014 Nov 20. Citation on PubMed Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ. KBG syndrome involving ...

  20. Genetics Home Reference: neurofibromatosis type 2

    MedlinePlus

    ... neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that ... Boston Children's Hospital GeneReview: Neurofibromatosis 2 MedlinePlus ... Encyclopedia: Neurofibromatosis 2 Neurofibromatosis Clinic, Massachusetts ...

  1. Genetics Home Reference: porphyria

    MedlinePlus

    ... control breathing become paralyzed. Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria . Two other forms ... the disease never experience signs or symptoms. Acute intermittent porphyria is the most common form of acute ...

  2. Genetics Home Reference: hyperlysinemia

    MedlinePlus

    ... Sources for This Page Markovitz PJ, Chuang DT, Cox RP. Familial hyperlysinemias. Purification and characterization of the ... Biery BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT. Identification of the ...

  3. Genetics Home Reference: pilomatricoma

    MedlinePlus

    ... F, Palacios J. beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  4. Genetics Home Reference: trichothiodystrophy

    MedlinePlus

    ... trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience. 2007 Apr 14;145(4):1388-96. ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  5. Genetics Home Reference: 8p11 myeloproliferative syndrome

    MedlinePlus

    ... Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Diagnosis Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Treatment Options Cancer.Net from ...

  6. Genetics Home Reference: essential tremor

    MedlinePlus

    ... types of activities, such as eating, drinking, or writing. Essential tremor can also occur when the muscles are opposing gravity, such as when the hands are extended. It is usually not evident at ...

  7. Genetics Home Reference: distal arthrogryposis type 1

    MedlinePlus

    ... Conditions Distal arthrogryposis type 1 Distal arthrogryposis type 1 Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Distal arthrogryposis type 1 is a disorder ...

  8. Genetics Home Reference: schwannomatosis

    MedlinePlus

    ... is usually considered to be a form of neurofibromatosis, which is a group of disorders characterized by ... nervous system. The other two recognized forms of neurofibromatosis are neurofibromatosis type 1 and neurofibromatosis type 2 . ...

  9. Genetics Home Reference: galactosialidosis

    MedlinePlus

    ... cardiomegaly); an eye abnormality called a cherry-red spot, which can be identified with an eye examination; ... intellectual disability, hearing loss, and a cherry-red spot. Children with this condition typically develop symptoms within ...

  10. Genetics Home Reference: juvenile Paget disease

    MedlinePlus

    ... Tau C, Tüysüz B, Yüksel B, Love D; International Hyperphosphatasia Collaborative Group. Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype. J Bone Miner Res. ...

  11. Genetics Home Reference: fibrochondrogenesis

    MedlinePlus

    ... provide instructions for making components of type XI collagen, which is a complex molecule that gives structure ... the body's joints and organs. Specifically, type XI collagen is found in cartilage, a tough but flexible ...

  12. Genetics Home Reference: otulipenia

    MedlinePlus

    ... AND DERMATOSIS SYNDROME Sources for This Page Damgaard RB, Walker JA, Marco-Casanova P, Morgan NV, Titheradge ... K, Elliott PR, Glockner L, Fiil BK, Damgaard RB, Kulathu Y, Wauer T, Hospenthal MK, Gyrd-Hansen ...

  13. Genetics Home Reference: hyperferritinemia-cataract syndrome

    MedlinePlus

    ... Camaschella C. Pathogenesis of hyperferritinemia cataract syndrome. Blood Cells Mol Dis. 2002 Nov-Dec;29(3):532-5. ... are genome editing and CRISPR-Cas9? What is precision medicine? What is newborn ...

  14. Genetics Home Reference: pseudohypoaldosteronism type 1

    MedlinePlus

    ... structural and functional considerations and new perspectives. Mol Cell Endocrinol. 2012 Mar 24;350(2):206-15. doi: ... are genome editing and CRISPR-Cas9? What is precision medicine? What is newborn ...

  15. Genetics Home Reference: coloboma

    MedlinePlus

    ... eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the ... individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye ...

  16. Genetics Home Reference: fucosidosis

    MedlinePlus

    ... muscle stiffness (spasticity); clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas); ... link) FUCOSIDOSIS Sources for This Page Ben Turkia H, Tebib N, Azzouz H, Abdelmoula MS, Bouguila J, ...

  17. Genetics Home Reference: choroideremia

    MedlinePlus

    ... movement of proteins and organelles within cells (intracellular trafficking). Mutations in the CHM gene lead to an ... Without the aid of Rab proteins in intracellular trafficking, cells die prematurely. The REP-1 protein is ...

  18. Genetics Home Reference: CLCN2-related leukoencephalopathy

    MedlinePlus

    ... The CLCN2 gene provides instructions for making a chloride channel called ClC-2. This channel transports negatively charged chlorine atoms (chloride ions) across cell membranes and plays a key ...

  19. Genetics Home Reference: mucopolysaccharidosis type IV

    MedlinePlus

    ... individuals develop various skeletal abnormalities, including short stature, knock knees, and abnormalities of the ribs, chest, spine, ... links) Encyclopedia: Cloudy cornea Encyclopedia: Hypermobile joints Encyclopedia: Knock ... Morquio syndrome Encyclopedia: Mucopolysaccharides Health Topic: ...

  20. Genetics Home Reference: retroperitoneal fibrosis

    MedlinePlus

    ... substances build up in the blood and tissues, leading to nausea, vomiting, weight loss, itching, a low number of red blood cells ( anemia ), and changes in brain function. Related Information What does it ...

  1. Genetics Home Reference: sialidosis

    MedlinePlus

    ... walking (gait disturbance) and/or a loss of sharp vision (reduced visual acuity). Individuals with sialidosis type ... d'Azzo A, Cavicchi C, Messeri A, Guerrini R, Zammarchi E, Donati MA, Morrone A. Type II ...

  2. Genetics Home Reference: alkaptonuria

    MedlinePlus

    ... This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of ... substance called homogentisic acid, which is produced as phenylalanine and tyrosine are broken down, accumulates in the ...

  3. Genetics Home Reference: osteopetrosis

    MedlinePlus

    ... is one of the two sex chromosomes . In males (who have only one X chromosome ), one altered ... will have two altered copies of this gene, males are affected by X-linked recessive disorders much ...

  4. Genetics Home Reference: Milroy disease

    MedlinePlus

    ... associated with other features in addition to lymphedema. Males with Milroy disease are sometimes born with an accumulation of fluid in the scrotum (hydrocele). Males and females may have upslanting toenails, deep creases ...

  5. Genetics Home Reference: familial HDL deficiency

    MedlinePlus

    ... phospholipids from cells by moving them across the cell membrane. The movement of these substances across the membrane is enhanced by another protein called apolipoprotein A-I (apoA-I), which is ...

  6. Genetics Home Reference: microphthalmia

    MedlinePlus

    ... CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Subscribe Customer Support USA. ...

  7. Genetics Home Reference: Burn-McKeown syndrome

    MedlinePlus

    ... ear (sensorineural hearing loss) and changes in the middle ear (conductive hearing loss). Other features that can occur in Burn-McKeown syndrome include mild short stature and congenital heart defects ...

  8. Genetics Home Reference: Pol III-related leukodystrophy

    MedlinePlus

    ... two largest parts (subunits) of an enzyme called RNA polymerase III. This enzyme is involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. The RNA polymerase ...

  9. Genetics Home Reference: cystinosis

    MedlinePlus

    ... the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often ... gene lead to a deficiency of a transporter protein called cystinosin. Within cells, this protein normally moves ...

  10. Genetics Home Reference: biotin-thiamine-responsive basal ganglia disease

    MedlinePlus

    ... link) Biotin-Thiamine-Responsive Basal Ganglia Disease Scientific Articles on PubMed (1 link) PubMed OMIM (1 link) THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) ...

  11. Genetics Home Reference: rhizomelic chondrodysplasia punctata

    MedlinePlus

    ... and in the nervous system. Within peroxisomes, the proteins produced from the PEX7 , GNPAT , and AGPS genes play roles in the formation (synthesis) of lipid molecules called plasmalogens. Plasmalogens are found ...

  12. Genetics Home Reference: Kuskokwim syndrome

    MedlinePlus

    ... collagens, which provide structure and strength to connective tissues that support the body's bones, joints, and ... U, Cundy T, Pyott SM, Christiansen HE, Hegde MR, Bank RA, Pals G, Ankala A, Conneely K, Seaver ...

  13. Genetics Home Reference: amelogenesis imperfecta

    MedlinePlus

    ... these proteins are involved in the formation of enamel, which is the hard, calcium-rich material that ... believed to be involved in the formation of enamel. Mutations in any of these genes result in ...

  14. Genetics Home Reference: gnathodiaphyseal dysplasia

    MedlinePlus

    ... can result in deterioration of the exposed bone (osteonecrosis of the jaw). Also, normal bone in areas ... Institute of Arthritis and Musculoskeletal and Skin Diseases: Osteonecrosis Educational Resources (4 links) American College of Rheumatology: ...

  15. Genetics Home Reference: Saethre-Chotzen syndrome

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    ... Saethre-Chotzen syndrome Johns Hopkins Collaboration for Craniofacial Development and Disorders MalaCards: saethre-chotzen syndrome Orphanet: Saethre-Chotzen syndrome Seattle Children's Hospital and Regional Medical Center Patient Support and Advocacy Resources (4 ...

  16. Genetics Home Reference: thanatophoric dysplasia

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    ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  17. Genetics Home Reference: Maffucci syndrome

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    ... particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. People with Maffucci syndrome ... into Enchondroma, Enchondromatosis and the risk of secondary Chondrosarcoma. Review of the literature with an emphasis on ...

  18. Genetics Home Reference: early-onset glaucoma

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    ... called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma. Other individuals experience early onset of primary open-angle glaucoma, the most ...

  19. Genetics Home Reference: Hashimoto thyroiditis

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    ... is the most common cause of thyroid underactivity (hypothyroidism) in the United States. Related Information What information ... However, some people with thyroid antibodies never develop hypothyroidism or experience any related signs or symptoms. People ...

  20. Genetics Home Reference: arginase deficiency

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    ... occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, ... the urea cycle, which produces urea by removing nitrogen from arginine. In people with arginase deficiency , arginase ...

  1. Genetics Home Reference: Crohn disease

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    ... or indirectly, to abnormal inflammation. However, the exact relationship between these factors and Crohn disease risk remains ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  2. Genetics Home Reference: Crouzon syndrome

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    ... People with Crouzon syndrome are usually of normal intelligence. Related Information What does it mean if a ... called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become ...

  3. Genetics Home Reference: Pfeiffer syndrome

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    ... individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and ... factor receptors 1 and 2, respectively. Among their multiple functions, these proteins signal immature cells to become ...

  4. Genetics Home Reference: Cowden syndrome

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    ... MS, Eng C. A clinical scoring system for selection of patients for PTEN mutation testing is proposed ... should consult with a qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map ...

  5. Genetics Home Reference: Laron syndrome

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    ... AL. Obesity, diabetes and cancer: insight into the relationship from a cohort with growth hormone receptor deficiency. ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  6. Genetics Home Reference: xeroderma pigmentosum

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    ... trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience. 2007 Apr 14;145(4):1388-96. ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  7. Genetics Home Reference: Miyoshi myopathy

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    ... Itoyama Y. Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. Neurology. 2003 Jun 10;60(11): ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  8. Genetics Home Reference: hereditary pancreatitis

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    ... the production of digestive enzymes and disrupt normal digestion, leading to fatty stool (steatorrhea), weight loss, and ... produced in the pancreas and helps with the digestion of food. When cationic trypsinogen is needed, it ...

  9. Genetics Home Reference: Gitelman syndrome

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    ... syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ... ions of potassium, magnesium, and calcium. The resulting imbalance of ions in the body underlies the major ...

  10. Genetics Home Reference: episodic ataxia

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    ... vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side ... autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology. 2001 Oct 23;57(8):1499-502. ...

  11. Genetics Home Reference: Horner syndrome

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    ... childhood cancer of the nerve tissues called a neuroblastoma . Horner syndrome can also be caused by problems ... roles of imaging and urine studies to detect neuroblastoma and other responsible mass lesions. Am J Ophthalmol. ...

  12. Genetics Home Reference: leukocyte adhesion deficiency type 1

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    ... adhesion deficiency type 1 Leukocyte adhesion deficiency type 1 Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Leukocyte adhesion deficiency type 1 is a ...

  13. Genetics Home Reference: hereditary hemochromatosis

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    ... of sex hormones is evident. Females usually begin menstruation in a normal manner, but menses stop after ... in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. ...

  14. Genetics Home Reference: Gilbert syndrome

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    ... periods without food (fasting), illness, vigorous exercise, or menstruation. Some people with Gilbert syndrome also experience abdominal ... in an autosomal recessive pattern , which means both copies of the gene in each cell have the ...

  15. Genetics Home Reference: otospondylomegaepiphyseal dysplasia

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    ... instructions for making one component of type XI collagen, which is a complex molecule that gives structure ... support the body's joints and organs. Type XI collagen is found in cartilage, a tough but flexible ...

  16. Genetics Home Reference: Stickler syndrome

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    ... Stickler syndrome provide instructions for making components of collagens, which are complex molecules that give structure and ... genes impair the production, processing, or assembly of collagen molecules. Defective collagen molecules or reduced amounts of ...

  17. Genetics Home Reference: FG syndrome

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    ... inheritance is that fathers cannot pass X-linked traits to their sons. Related Information What does it ... Opitz JO. Behavior phenotype of FG syndrome: cognition, personality, and behavior in eleven affected boys. Am J ...

  18. Genetics Home Reference: prekallikrein deficiency

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    ... a role in a process called the intrinsic coagulation pathway (also called the contact activation pathway). This ... functional plasma kallikrein, which likely impairs the intrinsic coagulation pathway. Researchers suggest that this lack (deficiency) of ...

  19. Genetics Home Reference: Lujan syndrome

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    ... attention-seeking. Some affected individuals have features of autism or related developmental disorders affecting communication and social ... a narrow roof of the mouth (palate) ; crowded teeth ; and a small chin ( micrognathia ). Almost all people ...

  20. Genetics Home Reference: acromicric dysplasia

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    ... part of the fibers that provide strength and flexibility to connective tissues, which support the bones, skin, ... Little People of America Little People UK National Organization for Rare Disorders (NORD) The MAGIC Foundation Scientific ...

  1. Genetics Home Reference: Huntington disease

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    ... in personality and a decline in thinking and reasoning abilities. Individuals with the adult-onset form of ... and drooling. School performance declines as thinking and reasoning abilities become impaired. Seizures occur in 30 percent ...

  2. Genetics Home Reference: biotinidase deficiency

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    ... disorder in which the body is unable to recycle the vitamin biotin. If this condition is not ... for making an enzyme called biotinidase. This enzyme recycles biotin, a B vitamin found in foods such ...

  3. Genetics Home Reference: fibronectin glomerulopathy

    MedlinePlus

    ... of tiny blood vessels in the kidneys that filter waste products from blood . The waste products are ... the kidneys, probably as the body attempts to filter it out as waste . Even though there is ...

  4. Genetics Home Reference: corticosterone methyloxidase deficiency

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    ... PC. Aldosterone synthase deficiency and related disorders. Mol Cell Endocrinol. 2004 Mar 31;217(1-2):81-7. Review. ... are genome editing and CRISPR-Cas9? What is precision medicine? What is newborn ...

  5. Genetics Home Reference: desmoid tumor

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    ... in my area? Other Names for This Condition aggressive fibromatosis deep fibromatosis desmoid fibromatosis familial infiltrative fibromatosis ... catenin protein and somatic APC mutations in sporadic aggressive fibromatoses (desmoid tumors). Am J Pathol. 1997 Aug; ...

  6. Genetics Home Reference: Poland syndrome

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    ... disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the ... affected individuals. People with Poland syndrome are typically missing part of one of the major chest muscles, ...

  7. Genetics Home Reference: Fraser syndrome

    MedlinePlus

    ... them, or they may be small ( microphthalmia ) or missing (anophthalmia). Eye abnormalities typically lead to impairment or ... other problems related to abnormal eye development, including missing eyebrows or eyelashes or a patch of hair ...

  8. Genetics Home Reference: anonychia congenita

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    ... and toenails. Individuals with this condition are typically missing all of their fingernails and toenails (anonychia). This ... some cases, only part of the nail is missing (hyponychia) or not all fingers and toes are ...

  9. Genetics Home Reference: familial candidiasis

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    ... or in the vagina. These episodes, commonly called yeast infections, usually last only a short time before ... people with familial candidiasis have chronic or recurrent yeast infections that begin in early childhood. Skin infections ...

  10. Genetics Home Reference: polycystic ovary syndrome

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    ... Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES). AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE ...

  11. Genetics Home Reference: hereditary hyperekplexia

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    ... Howell OW, Vanbellinghen JF, Rees MI, Chung SK, Lynch JW. New hyperekplexia mutations provide insight into glycine ... Zhang Y, Bode A, Nguyen B, Keramidas A, Lynch JW. Investigating the Mechanism by Which Gain-of- ...

  12. Genetics Home Reference: ataxia-telangiectasia

    MedlinePlus

    ... risk of developing cancer, particularly cancer of blood-forming cells ( leukemia ) and cancer of immune system cells ( ... Demuth I, Dutrannoy V, Marques W Jr, Neitzel H, Schindler D, Dimova PS, Chrzanowska KH, Bojinova V, ...

  13. Genetics Home Reference: Larsen syndrome

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    ... active (expressed) in the cell membranes of cartilage-forming cells (chondrocytes). Cartilage is a tough, flexible tissue ... Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher ...

  14. Genetics Home Reference: warfarin sensitivity

    MedlinePlus

    ... it thins the blood, preventing blood clots from forming . Warfarin is often prescribed to prevent blood clots ... much drug to prevent clots because their clot forming process is already slower than average and can ...

  15. Genetics Home Reference: erythromelalgia

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    ... Bennett DL, Wood JN, Kinali M. Novel mutations mapping to the fourth sodium channel domain of Nav1. ... and late-onset inherited erythromelalgia: genotype-phenotype correlation. Brain. 2009 Jul;132(Pt 7):1711-22. doi: ...

  16. Genetics Home Reference: vibratory urticaria

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    ... exposing the skin to vibration, repetitive stretching, or friction results in allergy symptoms such as hives (urticaria), ... fragile connection can be more easily broken; vibration, friction, or stretching of the skin can disrupt the ...

  17. Genetics Home Reference: Sotos syndrome

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    ... gene are the primary cause of Sotos syndrome , accounting for up to 90 percent of cases. Other ... molecule called a methyl group to histones (a process called methylation), histone methyltransferases regulate the activity of ...

  18. Genetics Home Reference: familial dysautonomia

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    ... and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which ... tears, frequent lung infections, and difficulty maintaining body temperature. Older infants and young children with familial dysautonomia ...

  19. Genetics Home Reference: transthyretin amyloidosis

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    ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  20. Genetics Home Reference: Brugada syndrome

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    ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  1. Genetics Home Reference: Friedreich ataxia

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    ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  2. Genetics Home Reference: frontonasal dysplasia

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    ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  3. Genetics Home Reference: Gaucher disease

    MedlinePlus

    ... Campbell PE, Charrow J, Cohen IJ, Harris CM, Kaplan P, Mengel E, Pocovi M, Vellodi A. Pediatric ... Updated Pages Reviewed : September 2014 Published : June 19, 2018 The resources on this site should not be ...

  4. Genetics Home Reference: moyamoya disease

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    ... Center Frequency Moyamoya disease was first identified in Japan, where it is most prevalent, affecting about 5 ... unilateral moyamoya disease and quasi-moyamoya disease in Japan. Clin Neurol Neurosurg. 2013 Jul;115(7):930- ...

  5. Genetics Home Reference: Wagner syndrome

    MedlinePlus

    ... which the part of the retina responsible for sharp central vision is out of place. Additionally, the ... Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen ...

  6. Genetics Home Reference: transcobalamin deficiency

    MedlinePlus

    ... also have a shortage of white blood cells (neutropenia), which can lead to reduced immune system function. ... deficiency Seattle Children's Hospital: Anemia Seattle Children's Hospital: Neutropenia Washington University, St. Louis: Neuromuscular Disease Center: Vitamin ...

  7. Genetics Home Reference: CLPB deficiency

    MedlinePlus

    ... a shortage of infection-fighting white blood cells (neutropenia). Signs and symptoms of the condition develop by ... have recurrent, life-threatening infections due to severe neutropenia. Affected individuals are at risk of developing a ...

  8. Genetics Home Reference: Lowe syndrome

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    ... inheritance is that fathers cannot pass X-linked traits to their sons. In some cases of Lowe ... should consult with a qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map ...

  9. Genetics Home Reference: Danon disease

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    ... inheritance is that fathers cannot pass X-linked traits to their sons. Related Information What does it ... should consult with a qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map ...

  10. Genetics Home Reference: frontometaphyseal dysplasia

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    ... inheritance is that fathers cannot pass X-linked traits to their sons. Related Information What does it ... should consult with a qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map ...

  11. Genetics Home Reference: incontinentia pigmenti

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    ... occurs much more often in females than in males. Incontinentia pigmenti is characterized by skin abnormalities that ... of these individuals are female, but several dozen males with incontinentia pigmenti have also been identified. Related ...

  12. Genetics Home Reference: CHARGE syndrome

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    ... hormones that direct sexual development. As a result, males with CHARGE syndrome are often born with an ... Puberty can be incomplete or delayed in affected males and females. Another minor feature of CHARGE syndrome ...

  13. Genetics Home Reference: Kallmann syndrome

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    ... a part of the brain called the hypothalamus. Males born with hypogonadotropic hypogonadism often have an unusually ... facial hair and deepening of the voice in males, the start of monthly periods (menstruation) and breast ...

  14. Genetics Home Reference: Swyer syndrome

    MedlinePlus

    ... they help determine whether a person will develop male or female sex characteristics. Girls and women typically ... Y protein starts processes that are involved in male sexual development. These processes cause a fetus to ...

  15. Genetics Home Reference: oculofaciocardiodental syndrome

    MedlinePlus

    ... the signs and symptoms of OFCD syndrome. In males (who have only one X chromosome ), mutations result ... be lethal very early in development, so no males are born with OFCD syndrome. Related Information What ...

  16. Genetics Home Reference: Greenberg dysplasia

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    ... domain, plays an important role in the production (synthesis) of cholesterol. Cholesterol is a type of fat ... of certain hormones and digestive acids. During cholesterol synthesis, the sterol reductase function of the lamin B ...

  17. Genetics Home Reference: fundus albipunctatus

    MedlinePlus

    ... integral operation of the visual cycle is the recycling of a molecule called 11-cis retinal, which ... dehydrogenase 5, which performs one step in this recycling process. This enzyme converts a molecule called 11- ...

  18. Genetics Home Reference: metachromatic leukodystrophy

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    ... cellular structures called lysosomes , which are the cell's recycling centers. Within lysosomes, arylsulfatase A helps break down ... Byrd R, Hicks J. Metachromatic leukodystrophy and its effects on the gallbladder: a case report. Ultrastruct Pathol. ...

  19. Genetics Home Reference: ulcerative colitis

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    ... colitis is most common in North America and Western Europe; however the prevalence is increasing in other ... 3 links) Encyclopedia: Ulcerative Colitis Encyclopedia: Ulcerative Colitis (Image) Health Topic: Ulcerative Colitis Additional NIH Resources (1 ...

  20. Genetics Home Reference: Tourette syndrome

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    ... Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Subscribe Customer Support USA. ...

  1. Genetics Home Reference: bradyopsia

    MedlinePlus

    ... 75-8. Citation on PubMed Vincent A, Robson AG, Holder GE. Pathognomonic (diagnostic) ERGs. A review and ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Subscribe Customer Support USA. ...

  2. Genetics Home Reference: Clouston syndrome

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    ... M, Nakamura M, Farooq M, Fujikawa H, Kibbi AG, Ito M, Dahdah M, Matta M, Diab H, ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Subscribe Customer Support USA. ...

  3. Genetics Home Reference: Griscelli syndrome

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    ... Jacob CM, Cristofani L, Casella EB, Voltarelli JC, de Saint-Basile G, Espreafico EM. Griscelli syndrome: characterization ... Asal GT, Tezcan I, Metin A, Lambert N, de Saint Basile G, Sanal O. Griscelli syndrome types ...

  4. Genetics Home Reference: lung cancer

    MedlinePlus

    ... second most commonly diagnosed cancer, after breast cancer , accounting for about one-quarter of all cancer diagnoses. ... cancer is the leading cause of cancer deaths, accounting for an estimated 27 percent of all cancer ...

  5. Genetics Home Reference: Treacher Collins syndrome

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    ... defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal. People with Treacher Collins syndrome usually have normal intelligence. Related Information What does ...

  6. Genetics Home Reference: spondyloepiphyseal dysplasia congenita

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    ... feet. Abnormal curvature of the spine ( kyphoscoliosis and lordosis ) becomes more severe during childhood. Instability of the ... Resources (4 links) MedlinePlus Encyclopedia: Clubfoot MedlinePlus Encyclopedia: ... Detachment MedlinePlus Encyclopedia: Scoliosis General ...

  7. Genetics Home Reference: cherubism

    MedlinePlus

    ... Saheki Y, Kawai T, Mukherjee PM, Reichenberger E, Olsen BR. Increased myeloid cell responses to M-CSF ... Habal M, Rhee-Morris L, Doss JB, Kreiborg S, Olsen BR, Reichenberger E. Mutations in the gene encoding ...

  8. Genetics Home Reference: myotonic dystrophy

    MedlinePlus

    ... mutated gene produces an expanded version of messenger RNA , which is a molecular blueprint of the gene ... the production of proteins. The abnormally long messenger RNA forms clumps inside the cell that interfere with ...

  9. Genetics Home Reference: Renpenning syndrome

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    ... to play a role in processing and transporting RNA, a chemical cousin of DNA that serves as ... binding protein 1 is found in structures called RNA granules. These granules allow the transport and storage ...

  10. Genetics Home Reference: Apert syndrome

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    ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  11. Genetics Home Reference: hereditary spherocytosis

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    ... occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the ... of hereditary spherocytosis in people of other ethnic backgrounds is unknown, but it is much less common. ...

  12. Genetics Home Reference: dyskeratosis congenita

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    ... making proteins that help maintain structures known as telomeres , which are found at the ends of chromosomes. ... dyskeratosis congenita , mutations in other genes involved with telomere maintenance have been identified. Other affected individuals have ...

  13. Genetics Home Reference: Walker-Warburg syndrome

    MedlinePlus

    ... also involved in development of this condition. The proteins produced from the genes listed above and others involved in Walker-Warburg syndrome modify a protein called alpha (α)-dystroglycan; this modification, called glycosylation, ...

  14. Genetics Home Reference: achromatopsia

    MedlinePlus

    ... NW, Roosing S, van Schooneveld MJ, van Lith-Verhoeven JJ, van Moll-Ramirez N, van den Born LI, ... van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, ...

  15. Genetics Home Reference: Huntington disease-like syndrome

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    ... abnormal protein can build up in nerve cells (neurons) and disrupt the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the ...

  16. Genetics Home Reference: Wolfram syndrome

    MedlinePlus

    ... amounts of the sex hormone testosterone in males (hypogonadism), or neurological or psychiatric disorders. Diabetes mellitus is ... diabetes insipidus. Pituitary gland dysfunction can also cause hypogonadism in males. The lack of testosterone that occurs ...

  17. Genetics Home Reference: Majeed syndrome

    MedlinePlus

    ... Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ. A splice site mutation confirms the ... gov/books/NBK1974/ Citation on PubMed El-Shanti HI, Ferguson PJ. Chronic recurrent multifocal osteomyelitis: a concise ...

  18. Genetics Home Reference: intrahepatic cholestasis of pregnancy

    MedlinePlus

    ... such as women of Araucanian Indian ancestry in Chile or women of Scandinavian ancestry. This condition is ... reduce the movement of phospholipids into bile. The lack of phospholipids available to bind to bile acids ...

  19. Genetics Home Reference: depression

    MedlinePlus

    ... expand/collapse boxes. Description Depression (also known as major depression or major depressive disorder) is a psychiatric disorder ... Names for This Condition clinical depression depressive disorder major depression major depressive disorder MDD unipolar depression Related Information ...

  20. Genetics Home Reference: multiple system atrophy

    MedlinePlus

    ... inability to hold the body upright and balanced (postural instability). The other type of multiple system atrophy , ... cells in parts of the nervous system that control movement, balance and coordination, and autonomic functioning. The ...

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