Albinism, oculocutaneous, type ia

Preferred Label : Albinism, oculocutaneous, type ia;

Symbol : OCA1A;

CISMeF acronym : ATN; OCA1A; OCA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : OCA1; Oculocutaneous albinism, type I; Oculocutaneous albinism, tyrosinase-negative; Albinism I; ATN;

Description : Oculocutaneous albinism is a genetically heterogeneous congenital disorder characterized by decreased or absent pigmentation in the hair, skin, and eyes. The term 'albinism' includes specific ocular changes that are the results of reduced amounts of melanin in the developing eye; these abnormalities in the eye and optic system are specific and necessary for the diagnosis. Aside from decreased pigment in the iris and retina, optic changes include decreased visual acuity, misrouting of the optic nerves at the chiasm, and nystagmus (King et al., 2001). Although OCA caused by mutations in the TYR gene was classically known as 'tyrosinase-negative' OCA, Tripathi et al. (1992) noted that some patients with 'tyrosinase-positive' OCA may indeed have TYR mutations resulting in residual enzyme activity. These patients can be classified as having OCA1B. - Genetic Heterogeneity of Oculocutaneous Albinism OCA1, caused by mutations in the TYR gene, is divided clinically into 2 types: type IA, OCA1A, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB (OCA1B; 606952), characterized by reduced activity of tyrosinase. OCA2 (203200), OCA3 (203290), and OCA4 (606574) are somewhat milder forms of the disorder, caused by mutations in the OCA2 (611409), TYRP1 (115501), and;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tyrosinase gene (TYR, 606933.0001);

Laboratory abnormalities : Absent tyrosinase activity;

Prefixed ID : #203100;

Details

Origin ID

203100;

UMLS CUI

C4551504;

Automatic exact mappings (from CISMeF team)
- Albinism [PASCAL descriptor]
- Albinism [NCIt concept]
- TYR wt Allele [NCIt concept]
- albinism [MeSH Descriptor]
- albinism [MeSH concept]
- neural tube defects [MeSH Descriptor]
- tyrosinase [ORDO Gene]
- tyrosinase [HGNC gene]
Broader ORDO disease(s)
- Oculocutaneous albinism [ORDO Disease]
Currated CISMeF NLP mapping
- Oculocutaneous Albinism Type 1A [NCIt concept]
- Oculocutaneous albinism type 1 [ORDO Disease]
- Oculocutaneous albinism type 1 [MeSH concept]
- Oculocutaneous albinism type 1A [ICD-11 More detail]
- Oculocutaneous albinism type 1A [ORDO Disease]
- Tyrosinase-negative oculocutaneous albinism (disorder) [SNOMED CT concept]
- albinism, oculocutaneous [MeSH Descriptor]
- oculocutaneous albinism type 1 [MeSH Supplementary Concept]
- oculocutaneous albinism type IA [DO Concept]
- oculocutaneous albinism type IA [Disease (Nov.)]
- tyrosinase-negative oculocutaneous albinism [SNOMED Notion]
DO Cross reference
- oculocutaneous albinism type IA [DO Concept]
Genes related to phenotype
- Tyrosinase [OMIM gene]
HPO term(s)
- Abnormality of refraction [HPO term]
- Absent skin pigmentation [HPO term]
- Albinism [HPO term]
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue irides [HPO term]
- Congenital onset [HPO term]
- Exotropia [HPO term]
- Hypopigmentation of hair [HPO term]
- Hypoplasia of the fovea [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Ocular albinism [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
- Strabismus [HPO term]
- Visual impairment [HPO term]
- White hair [HPO term]
ORDO concept(s)
- Oculocutaneous albinism type 1 [ORDO Disease]
- Oculocutaneous albinism type 1A [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculocutaneous Albinism Type 1A [NCIt concept]
- Oculocutaneous albinism type 1 [MeSH concept]
- Oculocutaneous albinism type 1 [ORDO Disease]
- Oculocutaneous albinism type 1A [ORDO Disease]
- Tyrosinase-negative oculocutaneous albinism (disorder) [SNOMED CT concept]
- oculocutaneous albinism type 1 [MeSH Supplementary Concept]
- oculocutaneous albinism type I [Disease (Nov.)]
- oculocutaneous albinism type IA [DO Concept]
- oculocutaneous albinism type IA [Disease (Nov.)]
- tyrosinase-negative oculocutaneous albinism [SNOMED Notion]
Validated automatic mappings to NTBT
- Oculocutaneous albinism type 1 (disorder) [SNOMED CT concept]
- oculocutaneous albinism type I [Disease (Nov.)]

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