oculocutaneous albinism type 1
Findings
No curated finding names oculocutaneous albinism type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).
Definition from the Mondo Disease Ontology (MONDO:0018135), read 2026-09-29. CC BY 4.0.
Features
21 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.
- Abnormal choroid morphologyHPOHP:0000610
- Very frequent (80% to 99% of cases)
- Abnormality of visual evoked potentialsHPOHP:0000649
- Very frequent (80% to 99% of cases)
- Blue iridesHPOHP:0000635
- Very frequent (80% to 99% of cases)
- Cutaneous photosensitivityHPOHP:0000992
- Very frequent (80% to 99% of cases)
- Fundus hypopigmentationHPOHP:0007894
- Very frequent (80% to 99% of cases)
- Generalized hypopigmentationHPOHP:0007513
- Very frequent (80% to 99% of cases)
- Generalized hypopigmentation of hairHPOHP:0011358
- 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)
- Iris transillumination defectHPOHP:0012805
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Optic nerve misroutingHPOHP:0025551
- Very frequent (80% to 99% of cases)
Show the remaining 9
- PhotophobiaHPOHP:0000613
- Very frequent (80% to 99% of cases)
- Reduced visual acuityHPOHP:0007663
- Very frequent (80% to 99% of cases)
- AmblyopiaHPOHP:0000646
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- White eyebrowHPOHP:0002226
- Frequent (30% to 79% of cases)
- White eyelashesHPOHP:0002227
- Frequent (30% to 79% 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 · ClinGen · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: oculocutaneous albinism type 1
- Also called
- OCA1