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retinitis pigmentosa 42 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 42

MONDO:0013052

Also known as:KLHL7 retinitis pigmentosaRP42retinitis pigmentosa caused by mutation in KLHL7

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene.

GeneticsAutosomal dominant · KLHL7 (chr 7)

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: Peripapillary atrophy, Reduced visual acuity, Perifoveal ring of hyperautofluorescence, and Rod-cone dystrophy; and very common findings: Cystoid macular edema.

Organ System	Phenotype Count	Example Features
Muscles	1	Peripapillary atrophy

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.

KLHL7 encodes kelch like family member 7 (586 aa). Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Highest expression in Testis (28.9 TPM) and Brain Cerebellar Hemisphere (19.7 TPM).

Retinitis pigmentosa 42 is associated with mutations in the KLHL7 gene on chromosome 7.

KLHL7 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for KLHL7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 42 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 1 very 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 42.

69 publications have been identified in PubMed for retinitis pigmentosa 42. Research spans Epidemiology / Natural History (30%), Basic Science / Preclinical (20%), and Diagnostic / Biomarker (14%).

Research Type	Count	% of Total
Disease patterns and progression	21	30%

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:612943

GARD

Genetic and Rare Diseases Info Center

GARD:15593

Questions for Your Care Team

→Should I pursue genetic testing for KLHL7, and what would the results mean for my family?
→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 42

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 42

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