oculocutaneous albinism type 4
Findings
No curated finding names oculocutaneous albinism type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.
Definition from the Mondo Disease Ontology (MONDO:0011683), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
19 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)
- Hypoplasia of the foveaHPOHP:0007750
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- 9 of 18 reported patients
- Very frequent (80% to 99% of cases)
- Reduced visual acuityHPOHP:0007663
- Very frequent (80% to 99% of cases)
- AlbinismHPOHP:0001022
- Frequent (30% to 79% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Frequent (30% to 79% of cases)
Show the remaining 7
- White hairHPOHP:0011364
- Frequent (30% to 79% of cases)
- Neoplasm of the skinHPOHP:0008069
- Very rare (1% to 4% of cases)
- NevusHPOHP:0003764
- Very rare (1% to 4% of cases)
- Blue iridesHPOHP:0000635
- Fundus hypopigmentationHPOHP:0007894
- Macular hypoplasiaHPOHP:0001104
- Visual impairmentHPOHP:0000505
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.
- SLC45A2HGNC:16472
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: oculocutaneous albinism type 4
- Also called
- OCA4oculocutaneous albinism caused by mutation in SLC45A2SLC45A2 oculocutaneous albinism