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retinitis pigmentosa 74 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 74

MONDO:0014692

Also known as:BBS2 retinitis pigmentosaRP74retinitis pigmentosa caused by mutation in BBS2

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.

GeneticsAutosomal recessive · BBS2 (chr 16)

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: Reduced visual acuity and Rod-cone dystrophy; and sometimes findings: Polydactyly and Obesity. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract

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.

BBS2 encodes Bardet-Biedl syndrome 2 (721 aa). The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. Highest expression in Nerve Tibial (125.2 TPM) and Adrenal Gland (84.1 TPM).

Retinitis pigmentosa 74 is associated with mutations in the BBS2 gene on chromosome 16.

The BBS2 protein participates in BBSome-mediated cargo-targeting to cilium and ARL6:GTP and the BBSome bind ciliary cargo pathways.

BBS2 is classified as a druggable target (Druggable Genome category) with score 3.3.

Diagnosis

Genetic testing for BBS2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 74 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present 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 74.

33 publications have been identified in PubMed for retinitis pigmentosa 74. Research spans Epidemiology / Natural History (39%), Basic Science / Preclinical (33%), and Case Report / Case Series (9%).

Research Type	Count	% of Total
Disease patterns and progression	13	39%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616562

GARD

Genetic and Rare Diseases Info Center

GARD:16138

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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Kisho

retinitis pigmentosa 74

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 74

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