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retinitis pigmentosa 38 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 38

MONDO:0013469

Also known as:MERTK retinitis pigmentosaRP38retinitis pigmentosa caused by mutation in MERTK

Overview

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

GeneticsAutosomal recessive · MERTK (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: Constriction of peripheral visual field, Nyctalopia, Progressive visual loss, and Rod-cone dystrophy. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Peripheral retinal atrophy, Macular atrophy, Optic disc pallor

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.

MERTK encodes MER proto-oncogene, tyrosine kinase (999 aa). Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including LGALS3, TUB, TULP1 or GAS6. Highest expression in Adrenal Gland (52.4 TPM) and Artery Tibial (46.6 TPM).

Retinitis pigmentosa 38 is associated with mutations in the MERTK gene on chromosome 2.

The MERTK protein participates in MERTK:MERKT ligands pathway.

MERTK is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, Kinase, and Tyrosine Kinase categories) with score 3.5.

Diagnosis

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

Biomarker and diagnostic research for retinitis pigmentosa 38 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 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 38.

67 publications have been identified in PubMed for retinitis pigmentosa 38. Research spans Epidemiology / Natural History (25%), Basic Science / Preclinical (21%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Disease patterns and progression	17	25%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613862

GARD

Genetic and Rare Diseases Info Center

GARD:15725

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 38

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 38

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