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retinitis pigmentosa 78 (RP78) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinitis pigmentosa 78

MONDO:0044314

Also known as:RP78

Overview

GeneticsAutosomal recessive · ARHGEF18 (chr 19)

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: Nyctalopia, Visual field defect, and Reduced visual acuity; and common findings: Photopsia, Cystoid macular edema, and Optic disc pallor.

Organ System	Phenotype Count	Example Features
Eyes	2	Cystoid macular edema, 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.

ARHGEF18 encodes Rho/Rac guanine nucleotide exchange factor 18 (1,361 aa). Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPases. Its activation induces formation of actin stress fibers. Highest expression in Spleen (58.4 TPM) and Small Intestine Terminal Ileum (49.0 TPM).

Retinitis pigmentosa 78 is associated with mutations in the ARHGEF18 gene on chromosome 19.

The ARHGEF18 protein participates in TGFBR1 is recruited to tight junctions by PARD6A, RHOA GEFs activate RHOA, and CDC42 GEFs activate CDC42 pathways.

ARHGEF18 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ARHGEF18 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 78 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 3 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 78.

31 publications have been identified in PubMed for retinitis pigmentosa 78. Research spans Clinical Trial Publication (29%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Clinical study results	9	29%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617433

GARD

Genetic and Rare Diseases Info Center

GARD:16229

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 78

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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