Albinism, Oculocutaneous, Type Ia malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases
Aliases & Descriptions for Albinism, Oculocutaneous, Type Ia:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
oculocutaneous albinism type 1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Eye diseases, Skin diseases
OMIM:51 Oculocutaneous albinism is a genetically heterogeneous congenital disorder characterized by decreased or absent... (203100) more...
MalaCards based summary: Albinism, Oculocutaneous, Type Ia, also known as oculocutaneous albinism type 1, is related to minimal pigment oculocutaneous albinism type 1 and acute kidney tubular necrosis, and has symptoms including photophobia, nystagmus and ocular albinism. An important gene associated with Albinism, Oculocutaneous, Type Ia is TYR (Tyrosinase). Affiliated tissues include skin, eye and retina, and related mouse phenotype pigmentation.
NIH Rare Diseases:47 Oculocutaneous albinism type 1 is a condition that affects the coloring of the skin, hair, and eyes. Signs and symptoms include very fair skin, white hair, an increased risk for skin damage with sun exposure, reduced vision (sharpness), light colored irises, nystagmus, and photophobia (eyes are sensitive to light). It is caused by changes in the TYR gene and is inherited in an autosomal recessive fashion. Last updated: 11/7/2011
UniProtKB/Swiss-Prot:69 Albinism, oculocutaneous, 1A: An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia.
GeneReviews for NBK1166
Human phenotypes related to Albinism, Oculocutaneous, Type Ia:63 53 (show all 28)
UMLS symptoms related to Albinism, Oculocutaneous, Type Ia:photophobia
Drugs for Albinism, Oculocutaneous, Type Ia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Albinism, Oculocutaneous, Type Ia
MalaCards organs/tissues related to Albinism, Oculocutaneous, Type Ia:35
Skin, Eye, Retina, Bone
UniProtKB/Swiss-Prot genetic disease variations for Albinism, Oculocutaneous, Type Ia:69 (show all 101)
Clinvar genetic disease variations for Albinism, Oculocutaneous, Type Ia:5 (show all 45)
Search GEO for disease gene expression data for Albinism, Oculocutaneous, Type Ia.
Cellular components related to Albinism, Oculocutaneous, Type Ia according to GeneCards Suite gene sharing:
Biological processes related to Albinism, Oculocutaneous, Type Ia according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet