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retinitis pigmentosa 62 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 62

MONDO:0013611

Also known as:MAK retinitis pigmentosaRP62retinitis pigmentosa caused by mutation in MAK

Overview

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

GeneticsAutosomal recessive · MAK (chr 6)

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: Visual field defect and Reduced visual acuity; and very common findings: Nyctalopia. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	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.

MAK encodes male germ cell associated kinase (623 aa). Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors. Phosphorylates FZR1 in a cell cycle-dependent manner. Highest expression in Testis (15.1 TPM) and Whole Blood (2.7 TPM).

Retinitis pigmentosa 62 is associated with mutations in the MAK gene on chromosome 6.

The MAK protein participates in p-S MAPK6,4:MAKPAPK5, p-S MAPK6,4:p-T182 MAKPAPK5, and TP53 Tetramer:PTEN Gene pathways.

MAK is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for retinitis pigmentosa 62 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 2 common 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 62.

56 publications have been identified in PubMed for retinitis pigmentosa 62. Research spans Basic Science / Preclinical (23%), Epidemiology / Natural History (23%), and Diagnostic / Biomarker (14%).

Research Type	Count	% of Total
Laboratory research	13	23%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614181

GARD

Genetic and Rare Diseases Info Center

GARD:15767

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 62

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 62

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