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retinitis pigmentosa 59 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 59

MONDO:0013468

Also known as:DHDDS retinitis pigmentosaRP59congenital disorder of glycosylation, type 1bb

Overview

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

GeneticsAutosomal recessive · DHDDS (chr 1)

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, Reduced visual acuity, and Rod-cone dystrophy; and sometimes findings: Cystoid macular edema. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	3	Feeding difficulties, Enlarged liver (hepatomegaly), Elevated circulating hepatic transaminase concentration

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.

DHDDS encodes dehydrodolichyl diphosphate synthase subunit (333 aa). With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Highest expression in Brain Cerebellum (95.1 TPM) and Brain Cerebellar Hemisphere (91.4 TPM).

Retinitis pigmentosa 59 is associated with mutations in the DHDDS gene on chromosome 1.

The DHDDS protein participates in Defective DHDDS causes RP59, Defective DHDDS does not elongate E,E-FPP, and DHDDS:NUS1 elongates E,E-FPP with (n)IPPP to form pPPP pathways.

DHDDS is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for retinitis pigmentosa 59 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 59.

50 publications have been identified in PubMed for retinitis pigmentosa 59. Research spans Epidemiology / Natural History (36%), Basic Science / Preclinical (20%), and Case Report / Case Series (12%).

Research Type	Count	% of Total
Disease patterns and progression	18	36%

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:613861

GARD

Genetic and Rare Diseases Info Center

GARD:15724

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 59

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 59

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