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 75 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 75

MONDO:0014871

Also known as:AGBL5 retinitis pigmentosaRP75retinitis pigmentosa caused by mutation in AGBL5

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene.

GeneticsAutosomal recessive · AGBL5 (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 always present findings: Bone spicule pigmentation of the retina, Rod-cone dystrophy, and Attenuation of retinal blood vessels; and common findings: Mixed astigmatism and Myopia. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	1	Bone spicule pigmentation of the retina

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.

AGBL5 encodes AGBL carboxypeptidase 5 (886 aa). Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins. Highest expression in Testis (336.9 TPM) and Bladder (24.3 TPM).

Retinitis pigmentosa 75 is associated with mutations in the AGBL5 gene on chromosome 2.

AGBL5 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 0.0.

Diagnosis

Genetic testing for AGBL5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 75 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 2 common features.

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 75.

54 publications have been identified in PubMed for retinitis pigmentosa 75. Research spans Basic Science / Preclinical (28%), Epidemiology / Natural History (24%), and Diagnostic / Biomarker (15%).

Research Type	Count	% of Total
Laboratory research	15	28%

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 11:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617023

GARD

Genetic and Rare Diseases Info Center

GARD:16176

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 75

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 75

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