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A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.
Features include always present findings: Woolly hair, Fragile skin, Acantholysis, and Subungual hyperkeratosis and others; and very common findings: Abnormal morphology of right ventricular trabeculae and Premature ventricular contraction. 31 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 12 | Complete right bundle branch block, Arrhythmia, Abnormal morphology of right ventricular trabeculae |
Skin | 7 | Fragile skin, Subungual hyperkeratosis, Diffuse palmoplantar hyperkeratosis |
Age of onset: at birth.
JUP encodes junction plakoglobin (745 aa). Common junctional plaque protein. Highest expression in Skin Sun Exposed Lower leg (1,198 TPM) and Skin Not Sun Exposed Suprapubic (1,089 TPM).
Naxos disease is associated with mutations in the JUP gene on chromosome 17.
The JUP protein participates in CTNNB1, JUP bind CDH1, CDH1 translocates from ER to Golgi, and CDH11 associates with catenins pathways.
JUP is classified as a druggable target with score 0.0.
Genetic testing for JUP is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 10 always present features, 2 very common features, 3 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for Naxos disease.
8 publications have been identified in PubMed for Naxos disease. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Other (13%).
Tsatsopoulou A (2026). [PMID: 40246227](https://pubmed.ncbi.nlm.nih.gov/40246227/). *Hellenic J Cardiol*. [Other]
Protonotarios I (2026). [PMID: 41936932](https://pubmed.ncbi.nlm.nih.gov/41936932/). *Hellenic J Cardiol*. [Review / Meta-Analysis]
Tsatsopoulou A (2026). [PMID: 40316016](https://pubmed.ncbi.nlm.nih.gov/40316016/). *Hellenic J Cardiol*. [Review / Meta-Analysis]
de la Puente Alonso M (2025). [PMID: 40233161](https://pubmed.ncbi.nlm.nih.gov/40233161/). *Clin Exp Dermatol*. [Case Report / Case Series]
Binfadel M (2025). [PMID: 40108711](https://pubmed.ncbi.nlm.nih.gov/40108711/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Tosun D (2025). [PMID: 40260958](https://pubmed.ncbi.nlm.nih.gov/40260958/). *Cardiol Young*. [Case Report / Case Series]
Ceasovschih A (2025). [PMID: 40564888](https://pubmed.ncbi.nlm.nih.gov/40564888/). *Diagnostics (Basel)*. [Review / Meta-Analysis]
Protonotarios A (2025). [PMID: 39877668](https://pubmed.ncbi.nlm.nih.gov/39877668/). *JACC Adv*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Naxos disease