oculocutaneous albinism type 3
Findings
No curated finding names oculocutaneous albinism type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.
Definition from the Mondo Disease Ontology (MONDO:0008747), read 2026-09-29. CC BY 4.0.
Features
13 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.
- Blue iridesHPOHP:0000635
- Frequent (30% to 79% of cases)
- FrecklingHPOHP:0001480
- Frequent (30% to 79% of cases)
- Generalized hypopigmentation of hairHPOHP:0011358
- Frequent (30% to 79% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- Frequent (30% to 79% of cases)
- Iris hypopigmentationHPOHP:0007730
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Red hairHPOHP:0002297
- Frequent (30% to 79% of cases)
- Absent skin pigmentationHPOHP:0200098
- Occasional (5% to 29% of cases)
- Blue nevusHPOHP:0100814
- Occasional (5% to 29% of cases)
- Optic nerve misroutingHPOHP:0025551
- Occasional (5% to 29% of cases)
- StrabismusHPOHP:0000486
- Occasional (5% to 29% of cases)
- White eyebrowHPOHP:0002226
- Occasional (5% to 29% of cases)
Show the remaining 1
- White eyelashesHPOHP:0002227
- 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.
- TYRP1HGNC:12450
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: oculocutaneous albinism type 3
- Also called
- OCA3oculocutaneous albinism caused by mutation in TYRP1Red oculocutaneous albinismrufous oculocutaneous albinismTYRP1 oculocutaneous albinismxanthous oculocutaneous albinism