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retinitis pigmentosa 46 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 46

MONDO:0012943

Also known as:IDH3B retinitis pigmentosaRP46retinitis pigmentosa caused by mutation in IDH3B

Overview

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene.

GeneticsAutosomal recessive · IDH3B (chr 20)

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, Pigmentary retinopathy, Visual impairment, and Rod-cone dystrophy and others; and common findings: Posterior subcapsular cataract.

Organ System	Phenotype Count	Example Features
Eyes	5	Pigmentary retinopathy, Visual impairment, Optic disc pallor

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.

IDH3B encodes isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta (385 aa). Plays a structural role to facilitate the assembly and ensure the full activity of the enzyme catalyzing the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. Highest expression in Brain Cerebellar Hemisphere (161.6 TPM) and Brain Cerebellum (157.3 TPM).

Retinitis pigmentosa 46 is associated with mutations in the IDH3B gene on chromosome 20.

IDH3B is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for IDH3B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 46 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features, 1 common feature.

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 46.

93 publications have been identified in PubMed for retinitis pigmentosa 46. Research spans Basic Science / Preclinical (24%), Epidemiology / Natural History (23%), and Case Report / Case Series (14%).

Research Type	Count	% of Total
Laboratory research	22	24%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612572

GARD

Genetic and Rare Diseases Info Center

GARD:15571

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 46

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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