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erythrokeratodermia variabilis et progressiva 3 (EKVP3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

erythrokeratodermia variabilis et progressiva 3

MONDO:0033013

Also known as:EKVP3

Overview

GeneticsAutosomal dominant · GJA1 (chr 6)

Clinical Presentation

Features include always present findings: Hypergranulosis, Epidermal acanthosis, Erythema, and Orthokeratosis and others.

Organ System	Phenotype Count	Example Features
Skin	3	Erythema, Palmoplantar keratoderma, Thickened, rough skin (hyperkeratosis)

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.

GJA1 encodes gap junction protein alpha 1 (382 aa). Structural component of the gap junction, a specialized intercellular structure consisting of a cluster of closely packed pairs of transmembrane channels, the connexons, that allow passage of small molecules and electrical signals between neighboring cells. Highest expression in Skin Not Sun Exposed Suprapubic (485.1 TPM) and Adrenal Gland (439.8 TPM).

Erythrokeratodermia variabilis et progressiva 3 is associated with mutations in the GJA1 gene on chromosome 6.

The GJA1 protein participates in p-S373-GJA1:p-S-ITGA5:ITGB1 (p-S373-Connexin-43:p-S-Integrin alpha5:Integrin beta1) transports ATP from the cytosol to the extracellular region pathway.

GJA1 is classified as a druggable target (Ion Channel category) with score 0.6.

Diagnosis

Genetic testing for GJA1 is available. Testing is considered confirmatory for diagnosis.

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 erythrokeratodermia variabilis et progressiva 3.

11 publications have been identified in PubMed for erythrokeratodermia variabilis et progressiva 3. Research spans Case Report / Case Series (55%), Basic Science / Preclinical (27%), and Other (9%).

Research Type	Count	% of Total
Patient case studies	6	55%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617525

GARD

Genetic and Rare Diseases Info Center

GARD:18589

Questions for Your Care Team

→Should I pursue genetic testing for GJA1, and what would the results mean for my family?
→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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erythrokeratodermia variabilis et progressiva 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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