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retinitis pigmentosa 32 (RP32) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 32

MONDO:0012363

Also known as:RP32retinitis pigmentosa type 32

Overview

A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.

GeneticsAutosomal recessive · CLCC1 (chr 1)

OnsetJUVENILE

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: Undetectable electroretinogram, Bone spicule pigmentation of the retina, Nyctalopia, and Pigmentary retinopathy and 6 more.

Organ System	Phenotype Count	Example Features
Eyes	5	Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Retinal 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.

CLCC1 encodes chloride channel CLIC like 1 (551 aa). Anion-selective channel with Ca(2+)-dependent and voltage-independent gating. Permeable to small monovalent anions with selectivity for bromide > chloride > nitrate > fluoride. Highest expression in Uterus (35.9 TPM) and Ovary (35.3 TPM).

Retinitis pigmentosa 32 is associated with mutations in the CLCC1 gene on chromosome 1.

CLCC1 is classified as a druggable target (Ion Channel category) with score 0.0.

Diagnosis

Genetic testing for CLCC1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 32 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 32.

72 publications have been identified in PubMed for retinitis pigmentosa 32. Research spans Epidemiology / Natural History (26%), Basic Science / Preclinical (19%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Disease patterns and progression	19	26%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:15 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609913

GARD

Genetic and Rare Diseases Info Center

GARD:10395

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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Kisho

retinitis pigmentosa 32

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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 32

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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