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oculocutaneous albinism type 3 (OCA3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculocutaneous albinism type 3

MONDO:0008747

Also known as:OCA3Red oculocutaneous albinismTYRP1 oculocutaneous albinism

Overview

Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.

GeneticsAutosomal recessive · TYRP1 (chr 9)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Blue irides, Hypopigmentation of the skin, Freckling, and Iris hypopigmentation and others; and sometimes findings: White eyebrow, White eyelashes, Optic nerve misrouting, and Blue nevus and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Strabismus, Nystagmus, Optic nerve misrouting

Genetic Landscape

TYRP1 function has not been fully characterized.

Oculocutaneous albinism type 3 is associated with mutations in the TYRP1 gene on chromosome 9.

Diagnosis

Genetic testing for TYRP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for oculocutaneous albinism type 3.

12 publications have been identified in PubMed for oculocutaneous albinism type 3. Research spans Basic Science / Preclinical (36%), Epidemiology / Natural History (27%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Laboratory research	4	36%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:05 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:203290 OMIM:278400

Orphanet

European rare disease database

Orphanet:79433

GARD

Genetic and Rare Diseases Info Center

GARD:4039

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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oculocutaneous albinism type 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

oculocutaneous albinism type 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications