oculocutaneous albinism type 1A
Findings
No curated finding names oculocutaneous albinism type 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.
Definition from the Mondo Disease Ontology (MONDO:0008745), read 2026-09-29. CC BY 4.0.
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AlbinismHPOHP:0001022
- Very frequent (80% to 99% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Very frequent (80% to 99% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- Very frequent (80% to 99% of cases)
- Hypoplasia of the foveaHPOHP:0007750
- Very frequent (80% to 99% of cases)
- Iris hypopigmentationHPOHP:0007730
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Ocular albinismHPOHP:0001107
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- Very frequent (80% to 99% of cases)
- Abnormal optic nerve morphologyHPOHP:0000587
- Frequent (30% to 79% of cases)
- Abnormality of visual evoked potentialsHPOHP:0000649
- Frequent (30% to 79% of cases)
- FrecklingHPOHP:0001480
- Frequent (30% to 79% of cases)
- Visual impairmentHPOHP:0000505
- Frequent (30% to 79% of cases)
Show the remaining 4
- Basal cell carcinomaHPOHP:0002671
- Occasional (5% to 29% of cases)
- HyperkeratosisHPOHP:0000962
- Occasional (5% to 29% of cases)
- Squamous cell carcinoma of the skinHPOHP:0006739
- Occasional (5% to 29% of cases)
- Thickened skinHPOHP:0001072
- Occasional (5% to 29% of cases)
Genes
1 gene
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.
- TYRHGNC:12442
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (1)
Other names
5 names
Resolves to: oculocutaneous albinism type 1A
- Also called
- OCA1Aoculocutaneous albinism caused by mutation in TYRoculocutaneous albinism, tyrosinase-negativeTYR oculocutaneous albinismtyrosinase-negative oculocutaneous albinism