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erythrokeratodermia variabilis et progressiva 5 (EKVP5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

erythrokeratodermia variabilis et progressiva 5

MONDO:0033015

Also known as:EKVP5

Overview

GeneticsAutosomal recessive · KRT83 (chr 12)

ResearchLimited published research (3 articles)

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: Joint stiffness, Palmoplantar hyperkeratosis, and Thickened, rough skin (hyperkeratosis); and common findings: Onychogryphosis. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Palmoplantar hyperkeratosis, Thickened, rough skin (hyperkeratosis)

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.

KRT83 encodes keratin 83 (493 aa). Highest expression in Brain Spinal cord cervical c-1 (1.8 TPM) and Thyroid (1.5 TPM).

Erythrokeratodermia variabilis et progressiva 5 is associated with mutations in the KRT83 gene on chromosome 12.

KRT83 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KRT83 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 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 erythrokeratodermia variabilis et progressiva 5.

3 publications have been identified in PubMed for erythrokeratodermia variabilis et progressiva 5. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

Hua S (2026). [PMID: 41296677](https://pubmed.ncbi.nlm.nih.gov/41296677/). *Clinical and experimental dermatology*. [Case Report / Case Series]
Lucaciu SA (2024). [PMID: 39513663](https://pubmed.ncbi.nlm.nih.gov/39513663/). *The Biochemical journal*. [Review / Meta-Analysis]
Gazulla J (2024). [PMID: 38771545](https://pubmed.ncbi.nlm.nih.gov/38771545/). *Cerebellum (London, England)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617756

GARD

Genetic and Rare Diseases Info Center

GARD:18669

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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erythrokeratodermia variabilis et progressiva 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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