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retinitis pigmentosa 84 (RP84) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 84

MONDO:0032604

Also known as:RP84

Overview

GeneticsAutosomal recessive · DHX38 (chr 16)

OnsetCHILDHOOD

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: Bone spicule pigmentation of the retina, Nyctalopia, Visual acuity no light perception, and Macular atrophy and others; and rarely findings: Cataract.

Organ System	Phenotype Count	Example Features
Eyes	4	Cataract, Macular atrophy, 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.

DHX38 encodes DEAH-box helicase 38 (1,227 aa). Probable ATP-binding RNA helicase (Probable). Involved in pre-mRNA splicing as component of the spliceosome Highest expression in Nerve Tibial (73.7 TPM) and Ovary (73.6 TPM).

Retinitis pigmentosa 84 is associated with mutations in the DHX38 gene on chromosome 16.

DHX38 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DHX38 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 84 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 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 84.

32 publications have been identified in PubMed for retinitis pigmentosa 84. Research spans Epidemiology / Natural History (47%), Basic Science / Preclinical (31%), and Gene Therapy / Novel Therapeutics (9%).

Research Type	Count	% of Total
Disease patterns and progression	15	47%

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 11:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618220

GARD

Genetic and Rare Diseases Info Center

GARD:16311

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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Kisho

retinitis pigmentosa 84

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 84

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