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retinitis pigmentosa 26 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 26

MONDO:0012024

Also known as:CERKL retinitis pigmentosaRP26retinitis pigmentosa caused by mutation in CERKL

Overview

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

GeneticsAutosomal recessive · CERKL (chr 2)

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: Constriction of peripheral visual field, Visual impairment, Optic disc pallor, and Undetectable light- and dark-adapted electroretinogram and 2 more.

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

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.

CERKL encodes CERK like autophagy regulator (558 aa). Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions Highest expression in Spleen (28.4 TPM) and Cells EBV-transformed lymphocytes (27.4 TPM).

Retinitis pigmentosa 26 is associated with mutations in the CERKL gene on chromosome 2.

CERKL is classified as a druggable target (Kinase and Lipid Kinase categories) with score 5.0.

Diagnosis

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

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 26.

30 publications have been identified in PubMed for retinitis pigmentosa 26. Research spans Basic Science / Preclinical (40%), Case Report / Case Series (20%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Laboratory research	12	40%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608380

GARD

Genetic and Rare Diseases Info Center

GARD:10397

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 26

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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