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retinitis pigmentosa 37 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 37

MONDO:0012625

Also known as:NR2E3 retinitis pigmentosaRP37retinitis pigmentosa caused by mutation in NR2E3

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.

GeneticsAutosomal recessive, Autosomal dominant · NR2E3 (chr 15)

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: Nyctalopia, Reduced visual acuity, and Rod-cone dystrophy; and common findings: Constriction of peripheral visual field, Photophobia, and Posterior subcapsular cataract. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Pigmentary retinopathy, Nuclear cataract, Cystoid macular degeneration

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.

NR2E3 encodes nuclear receptor subfamily 2 group E member 3 (410 aa). Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Highest expression in Prostate (1.3 TPM) and Testis (1.2 TPM).

Retinitis pigmentosa 37 is associated with mutations in the NR2E3 gene on chromosome 15.

NR2E3 is classified as a druggable target (Druggable Genome, Nuclear Hormone Receptor, Transcription Factor, and Transcription Factor Complex categories) with score 1.9.

Diagnosis

Genetic testing for NR2E3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

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

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 37.

19 publications have been identified in PubMed for retinitis pigmentosa 37. Research spans Basic Science / Preclinical (32%), Epidemiology / Natural History (26%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Laboratory research	6	32%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611131

GARD

Genetic and Rare Diseases Info Center

GARD:15508

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 37

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

retinitis pigmentosa 37

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications