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retinitis pigmentosa 92 (RP92) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 92

MONDO:0030619

Also known as:RP92

Overview

GeneticsAutosomal recessive · HKDC1 (chr 10)

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, Pigmentary retinopathy, and Visual impairment and others.

Organ System	Phenotype Count	Example Features
Eyes	2	Pigmentary retinopathy, Visual impairment

Explore clinical features

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.

HKDC1 encodes hexokinase domain containing 1 (917 aa). Catalyzes the phosphorylation of hexose to hexose 6-phosphate, although at very low level compared to other hexokinases. Has low glucose phosphorylating activity compared to other hexokinases. Highest expression in Small Intestine Terminal Ileum (28.3 TPM) and Kidney Medulla (10.5 TPM).

Retinitis pigmentosa 92 is associated with mutations in the HKDC1 gene on chromosome 10.

HKDC1 is classified as a druggable target (Druggable Genome and Kinase categories) with score 4.0.

Diagnosis

Genetic testing for HKDC1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 92 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 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 92.

25 publications have been identified in PubMed for retinitis pigmentosa 92. Research spans Epidemiology / Natural History (28%), Basic Science / Preclinical (24%), and Diagnostic / Biomarker (16%).

Research Type	Count	% of Total
Disease patterns and progression	7	28%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619614

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 92

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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