oculocutaneous albinism type 7
Findings
No curated finding names oculocutaneous albinism type 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.
Definition from the Mondo Disease Ontology (MONDO:0014070), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
7 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.
- Iris transillumination defectHPOHP:0012805
- 9 of 9 reported patients
- NystagmusHPOHP:0000639
- 9 of 9 reported patients
- Reduced visual acuityHPOHP:0007663
- 9 of 9 reported patients
- High hypermetropiaHPOHP:0008499
- 4 of 9 reported patients
- EsotropiaHPOHP:0000565
- 2 of 9 reported patients
- ExotropiaHPOHP:0000577
- 1 of 9 reported patients
- AlbinismHPOHP:0001022
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.
- HGNC:23405HGNC:23405
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · G2P · Autosomal recessive · 2010
- 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 7
- Also called
- LRMDA oculocutaneous albinismOCA7oculocutaneous albinism caused by mutation in LRMDA