Albinism, oculocutaneous, type ib

Preferred Label : Albinism, oculocutaneous, type ib;

Symbol : OCA1B;

CISMeF acronym : OCA1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oculocutaneous albinism, type ib; Albinism, yellow mutant type; Yellow albinism;

Included titles and symbols : Albinism, oculocutaneous, type I, temperature-sensitive; Oca1-ts;

Description : Oculocutaneous albinism type I is an autosomal recessive disorder characterized by absence of pigment in hair, skin, and eyes, and does not vary with race or age. Severe nystagmus, photophobia, and reduced visual acuity are common features. OCA type I is divided into 2 types: type IA, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB, characterized by reduced activity of tyrosinase. 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.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tyrosinase gene (TYR, 606933.0002);

Prefixed ID : #606952;

Details

Origin ID

606952;

UMLS CUI

C1847024;

Automatic exact mappings (from CISMeF team)
- Temperature sensitive oculocutaneous albinism [ICD-11 More detail]
- Temperature-sensitive oculocutaneous albinism type 1 [ORDO Disease]
- albinism, oculocutaneous, type I, Temperature-Sensitive [MeSH Supplementary Concept]
- albinism, oculocutaneous, type I, Temperature-Sensitive [MeSH concept]
Broader ORDO disease(s)
- Oculocutaneous albinism [ORDO Disease]
Currated CISMeF NLP mapping
- Oculocutaneous albinism type 1B [ICD-11 More detail]
- Oculocutaneous albinism type 1B [MeSH concept]
- Oculocutaneous albinism type 1B [ORDO Disease]
- oculocutaneous albinism type 1B [MeSH Supplementary Concept]
- oculocutaneous albinism type IB [DO Concept]
- oculocutaneous albinism type IB [Disease (Nov.)]
DO Cross reference
- oculocutaneous albinism type IB [DO Concept]
Genes related to phenotype
- Tyrosinase [OMIM gene]
HPO term(s)
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypopigmentation of hair [HPO term]
- Hypopigmentation of the fundus [HPO term]
- Hypopigmentation of the skin [HPO term]
- Nystagmus [HPO term]
- Photophobia [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Oculocutaneous albinism type 1 [ORDO Disease]
- Oculocutaneous albinism type 1B [ORDO Disease]
- Temperature-sensitive oculocutaneous albinism type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculocutaneous albinism type 1B [MeSH concept]
- Oculocutaneous albinism type 1B [ORDO Disease]
- Oculocutaneous albinism type 1B [ICD-11 More detail]
- Yellow mutant oculocutaneous albinism (disorder) [SNOMED CT concept]
- oculocutaneous albinism type 1B [MeSH Supplementary Concept]
- oculocutaneous albinism type IB [DO Concept]
- oculocutaneous albinism type IB [Disease (Nov.)]

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