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retinitis pigmentosa 55 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 55

MONDO:0013312

Also known as:ARL6 retinitis pigmentosaRP55retinitis pigmentosa caused by mutation in ARL6

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene.

GeneticsAutosomal recessive · ARL6 (chr 3)

Clinical Presentation

Features include: Rod-cone dystrophy.

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.

ARL6 encodes ARF like GTPase 6 (186 aa). Involved in membrane protein trafficking at the base of the ciliary organelle. Highest expression in Brain Cerebellar Hemisphere (8.9 TPM) and Brain Frontal Cortex BA9 (8.9 TPM).

Retinitis pigmentosa 55 is associated with mutations in the ARL6 gene on chromosome 3.

The ARL6 protein participates in ARL6:GTP:BBSome:ciliary cargo, ARL6:GTP and the BBSome bind ciliary cargo, and ARL6:GTP and the BBSome target cargo to the primary cilium pathways.

ARL6 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ARL6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 55 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 55.

54 publications have been identified in PubMed for retinitis pigmentosa 55. Research spans Epidemiology / Natural History (39%), Basic Science / Preclinical (19%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Disease patterns and progression	21	39%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 5:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613575

GARD

Genetic and Rare Diseases Info Center

GARD:15677

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 55

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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