oculocutaneous albinism type 1B
Findings
No curated finding names oculocutaneous albinism type 1B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.
Definition from the Mondo Disease Ontology (MONDO:0011749), read 2026-09-29. CC BY 4.0.
Features
17 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 retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- AlbinismHPOHP:0001022
- Very frequent (80% to 99% of cases)
- FrecklingHPOHP:0001480
- 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)
- Iris hypopigmentationHPOHP:0007730
- Very frequent (80% to 99% of cases)
- StrabismusHPOHP:0000486
- Very frequent (80% to 99% of cases)
- Abnormal optic nerve morphologyHPOHP:0000587
- Frequent (30% to 79% of cases)
- Hypoplasia of the foveaHPOHP:0007750
- Frequent (30% to 79% of cases)
- Melanocytic nevusHPOHP:0000995
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- PhotophobiaHPOHP:0000613
- Frequent (30% to 79% of cases)
Show the remaining 5
- Visual impairmentHPOHP:0000505
- Frequent (30% to 79% of cases)
- Basal cell carcinomaHPOHP:0002671
- Occasional (5% to 29% of cases)
- MelanomaHPOHP:0002861
- 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
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: oculocutaneous albinism type 1B
- Also called
- albinism, Yellow mutant typeOCA1Boculocutaneous albinism, Amish typeplatinum oculocutaneous albinismYellow oculocutaneous albinism