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:51
oculocutaneous albinism type 1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Eye diseases, Skin diseases
OMIM:49 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 temperature-sensitive oculocutaneous albinism type 1, and has symptoms including generalized hypopigmentation, ocular albinism and nystagmus. An important gene associated with Albinism, Oculocutaneous, Type Ia is TYR (Tyrosinase), and among its related pathways is Basal cell carcinoma. Affiliated tissues include skin, eye and retina, and related mouse phenotype pigmentation.
NIH Rare Diseases:45 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:67 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 summary for NBK1166
Symptoms by clinical synopsis from OMIM:203100
Clinical features from OMIM:203100
Symptoms:51 (show all 16)
HPO human phenotypes related to Albinism, Oculocutaneous, Type Ia:(show all 25)
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:33
Skin, Eye, Retina, Bone
UniProtKB/Swiss-Prot genetic disease variations for Albinism, Oculocutaneous, Type Ia:67 (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.
Pathways related to Albinism, Oculocutaneous, Type Ia according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet