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retinitis pigmentosa 71 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 71

MONDO:0014618

Also known as:IFT172 retinitis pigmentosaRP71retinitis pigmentosa caused by mutation in IFT172

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.

GeneticsAutosomal recessive · IFT172 (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: Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, and Optic disc pallor and others; and common findings: Sideways curvature of the spine (scoliosis). 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Optic disc drusen, Optic disc pallor, Attenuation of retinal blood vessels

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.

IFT172 encodes intraflagellar transport 172 (1,749 aa). Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway Highest expression in Testis (57.3 TPM) and Pituitary (51.2 TPM).

Retinitis pigmentosa 71 is associated with mutations in the IFT172 gene on chromosome 2.

IFT172 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for IFT172 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 71 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 1 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 71.

40 publications have been identified in PubMed for retinitis pigmentosa 71. Research spans Epidemiology / Natural History (40%), Clinical Trial Publication (18%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Disease patterns and progression	16	40%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616394

GARD

Genetic and Rare Diseases Info Center

GARD:16101

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 71

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 71

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