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retinitis pigmentosa 14 (RP14) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 14

MONDO:0010827

Also known as:RP14TULP1 retinitis pigmentosaretinitis pigmentosa caused by mutation in TULP1

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene.

GeneticsAutosomal recessive · TULP1 (chr 6)

OnsetINFANTILE

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: Undetectable electroretinogram, Nyctalopia, Nystagmus, and Reduced visual acuity and others. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Nystagmus, Retinal arteriolar constriction, Posterior subcapsular cataract

Genetic Landscape

TULP1 function has not been fully characterized.

Retinitis pigmentosa 14 is associated with mutations in the TULP1 gene on chromosome 6.

Diagnosis

Genetic testing for TULP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 14 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 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 14.

179 publications have been identified in PubMed for retinitis pigmentosa 14. Research spans Basic Science / Preclinical (30%), Epidemiology / Natural History (26%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Laboratory research	53	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600132

GARD

Genetic and Rare Diseases Info Center

GARD:10385

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 14

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 14

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