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GTR Home > Conditions/Phenotypes > Oculocutaneous albinism type 1B

Oculocutaneous albinism type 1B

Synonyms
ALBINISM, OCULOCUTANEOUS, TYPE IB; Albinism, yellow mutant type; Yellow albinism
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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. [from OMIM]

Available tests

44 tests are in the database for this condition.

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Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATN, CMM8, OCA1, OCA1A, OCAIA, SHEP3, TYR
    Summary: tyrosinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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