Albinism, Oculocutaneous, Type Ii malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases
Aliases & Descriptions for Albinism, Oculocutaneous, Type Ii:
Orphanet epidemiological data:51
oculocutaneous albinism type 2:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000,1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
albinism, oculocutaneous, type ii:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Eye diseases, Skin diseases
OMIM:49 Tyrosinase-positive oculocutaneous albinism (OCA, type II) is an autosomal recessive disorder in which the biosynthesis... (203200) more...
MalaCards based summary: Albinism, Oculocutaneous, Type Ii, also known as oculocutaneous albinism type 2, is related to brachymetapody anodontia hypotrichosis albinoidism and oculocutaneous albinism, and has symptoms including ocular albinism, freckling and optic atrophy. An important gene associated with Albinism, Oculocutaneous, Type Ii is OCA2 (OCA2 Melanosomal Transmembrane Protein). Affiliated tissues include skin, eye and retina.
NIH Rare Diseases:45 Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. affected individuals typically have very fair skin and white or light-colored hair. long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. this condition also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). people with this condition usually have vision problems such as reduced sharpness; nystagmus and strabismus; and increased sensitivity to light (photophobia). this condition is caused by mutations in the oca2 gene and is inherited in an autosomal recessive fashion. last updated: 9/19/2011
UniProtKB/Swiss-Prot:67 Albinism, oculocutaneous, 2: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides.
GeneReviews summary for NBK1232
Symptoms by clinical synopsis from OMIM:203200
Clinical features from OMIM:203200
Symptoms:51 (show all 12)
HPO human phenotypes related to Albinism, Oculocutaneous, Type Ii:(show all 19)
Drugs for Albinism, Oculocutaneous, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 37)
Interventional clinical trials:
Search NIH Clinical Center for Albinism, Oculocutaneous, Type Ii
MalaCards organs/tissues related to Albinism, Oculocutaneous, Type Ii:33
Skin, Eye, Retina
UniProtKB/Swiss-Prot genetic disease variations for Albinism, Oculocutaneous, Type Ii:67 (show all 39)
Clinvar genetic disease variations for Albinism, Oculocutaneous, Type Ii:5 (show all 22)
Search GEO for disease gene expression data for Albinism, Oculocutaneous, Type Ii.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet