oculocutaneous albinism type 6
Findings
No curated finding names oculocutaneous albinism type 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.
Definition from the Mondo Disease Ontology (MONDO:0018264), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 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.
- Fair hairHPOHP:0002286
- 1 of 1 reported patient
- Generalized hypopigmentationHPOHP:0007513
- 1 of 1 reported patient
- Hypoplasia of the foveaHPOHP:0007750
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Reduced visual acuityHPOHP:0007663
- 1 of 1 reported patient
- Very frequent (80% to 99% 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.
- SLC24A5HGNC:20611
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: oculocutaneous albinism type 6
- Also called
- OCA6