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retinitis pigmentosa 35 (RP35) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 35

MONDO:0012463

Also known as:RP35SEMA4A retinitis pigmentosaretinitis pigmentosa caused by mutation in SEMA4A

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.

GeneticsAutosomal recessive · SEMA4A (chr 1)

Clinical Presentation

Features include: Nyctalopia, Blindness, Reduced visual acuity, and Rod-cone dystrophy.

Organ System	Phenotype Count	Example Features
Eyes	1	Blindness

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Genetic Landscape

SEMA4A function has not been fully characterized.

Retinitis pigmentosa 35 is associated with mutations in the SEMA4A gene on chromosome 1.

Diagnosis

Genetic testing for SEMA4A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 35 has been reported in the published literature.

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 retinitis pigmentosa 35.

14 publications have been identified in PubMed for retinitis pigmentosa 35. Research spans Basic Science / Preclinical (29%), Epidemiology / Natural History (29%), and Diagnostic / Biomarker (14%).

Research Type	Count	% of Total
Laboratory research	4	29%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610282

GARD

Genetic and Rare Diseases Info Center

GARD:10402

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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retinitis pigmentosa 35

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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