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oculocutaneous albinism

MONDO:0018910Mondo

Findings

No curated finding names oculocutaneous albinism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.

Definition from the Mondo Disease Ontology (MONDO:0018910), read 2026-09-29. CC BY 4.0.

Genes

2 genes

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

OCA2HGNC:8101
- Limited · PanelApp Australia · Autosomal dominant · 2025
PMELHGNC:10880
- Limited · PanelApp Australia · Autosomal recessive · 2025

Where it sits

A kind of: disorder of melanin metabolism
hereditary skin disorder
hypopigmentation of the skin
Narrower terms (9): autosomal dominant oculocutaneous albinism
oculocutaneous albinism type 1
oculocutaneous albinism type 2
oculocutaneous albinism type 3
oculocutaneous albinism type 4
oculocutaneous albinism type 5
oculocutaneous albinism type 6
oculocutaneous albinism type 7
oculocutaneous albinism type 8

Other names

3 names

Resolves to: oculocutaneous albinism

Also called: non-syndromic oculocutaneous albinismnonsyndromic oculocutaneous albinismOCA