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oculocutaneous albinism type 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculocutaneous albinism type 7

MONDO:0014070

Also known as:LRMDA oculocutaneous albinismOCA7oculocutaneous albinism caused by mutation in LRMDA

Overview

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.

GeneticsAutosomal recessive · LRMDA (chr 10)

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 always present findings: Nystagmus, Iris transillumination defect, and Reduced visual acuity; and common findings: High hypermetropia. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	1	Nystagmus

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LRMDA encodes leucine rich melanocyte differentiation associated (198 aa). Required for melanocyte differentiation Highest expression in Adrenal Gland (7.0 TPM) and Thyroid (3.5 TPM).

Oculocutaneous albinism type 7 is associated with mutations in the LRMDA gene on chromosome 10.

LRMDA is classified as a druggable target with score 1.6.

Diagnosis

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

Biomarker and diagnostic research for oculocutaneous albinism type 7 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 7.

14 publications have been identified in PubMed for oculocutaneous albinism type 7. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (29%), and Diagnostic / Biomarker (21%).

Research Type	Count	% of Total
Patient case studies	5	36%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615179

Orphanet

European rare disease database

Orphanet:352745

GARD

Genetic and Rare Diseases Info Center

GARD:17531

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 7

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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