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

Rare Disease

retinitis pigmentosa 48

MONDO:0013447

Also known as:GUCA1B retinitis pigmentosaRP48retinitis pigmentosa caused by mutation in GUCA1B

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.

GeneticsAutosomal dominant · GUCA1B (chr 6)

Clinical Presentation

Features include: Macular degeneration, Visual impairment, and Rod-cone dystrophy.

Organ System	Phenotype Count	Example Features
Eyes	2	Macular degeneration, Visual impairment

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.

GUCA1B encodes guanylate cyclase activator 1B (200 aa). Stimulates two retinal guanylyl cyclases (GCs) GUCY2D and GUCY2F when free calcium ions concentration is low, and inhibits GUCY2D and GUCY2F when free calcium ions concentration is elevated. Highest expression in Brain Cerebellar Hemisphere (8.6 TPM) and Brain Cerebellum (7.7 TPM).

Retinitis pigmentosa 48 is associated with mutations in the GUCA1B gene on chromosome 6.

The GUCA1B protein participates in GUCYs converts GTP to cGMP pathway.

GUCA1B is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for GUCA1B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 48 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 48.

62 publications have been identified in PubMed for retinitis pigmentosa 48. Research spans Basic Science / Preclinical (35%), Epidemiology / Natural History (26%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Laboratory research	22	35%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613827

GARD

Genetic and Rare Diseases Info Center

GARD:15720

Questions for Your Care Team

→Should I pursue genetic testing for GUCA1B, 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?

← Back to All Diseases

retinitis pigmentosa 48

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications