Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

retinitis pigmentosa 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 12

MONDO:0010818

Also known as:CRB1 retinitis pigmentosaRP12retinitis pigmentosa caused by mutation in CRB1

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.

GeneticsAutosomal recessive · CRB1 (chr 1)

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: Undetectable electroretinogram, Nystagmus, Reduced visual acuity, and Rod-cone dystrophy and others; and very common findings: Bone spicule pigmentation of the retina and Optic disc pallor. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Nystagmus, Optic disc pallor, Attenuation of retinal blood vessels

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.

CRB1 encodes crumbs cell polarity complex component 1 (1,406 aa). Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion Highest expression in Brain Cerebellar Hemisphere (4.5 TPM) and Brain Cerebellum (4.5 TPM).

Retinitis pigmentosa 12 is associated with mutations in the CRB1 gene on chromosome 1.

CRB1 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for CRB1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 12 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 2 very common features, 1 common feature.

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 12.

31 publications have been identified in PubMed for retinitis pigmentosa 12. Research spans Epidemiology / Natural History (29%), Case Report / Case Series (26%), and Basic Science / Preclinical (26%).

Research Type	Count	% of Total
Disease patterns and progression	9	29%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600105

GARD

Genetic and Rare Diseases Info Center

GARD:10376

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?

← Back to All Diseases

Kisho

retinitis pigmentosa 12

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 12

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