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retinitis pigmentosa 73 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 73

MONDO:0014687

Also known as:HGSNAT retinitis pigmentosaRP73retinitis pigmentosa caused by mutation in HGSNAT

Overview

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

GeneticsAutosomal recessive · HGSNAT (chr 8)

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: Rod-cone dystrophy and Retinal atrophy; and very common findings: Nyctalopia. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Macular crystals, Color vision defect, 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.

HGSNAT encodes heparan-alpha-glucosaminide N-acetyltransferase (663 aa). Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl ... Highest expression in Cervix Endocervix (80.4 TPM) and Cervix Ectocervix (76.1 TPM).

Retinitis pigmentosa 73 is associated with mutations in the HGSNAT gene on chromosome 8.

The HGSNAT protein participates in HGSNAT W403C;A615T pathway.

HGSNAT is classified as a druggable target (Enzyme and Transporter categories) with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for retinitis pigmentosa 73 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 5 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 73.

34 publications have been identified in PubMed for retinitis pigmentosa 73. Research spans Epidemiology / Natural History (35%), Basic Science / Preclinical (21%), and Diagnostic / Biomarker (18%).

Research Type	Count	% of Total
Disease patterns and progression	12	35%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616544

GARD

Genetic and Rare Diseases Info Center

GARD:16135

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 73

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 73

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