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References OMIM Gene GeneReviews HGMD HGNC
last update : 25-03-2011
Location 17q21-q22
Name arrhythmogenic right ventricular dysplasia , with diffuse non epidermolytic palmoplantar keratoderma
Other name(s) Naxos disease
Corresponding gene JUP
Other symbol(s) ARVC
Main clinical features
  • palmoplantar keratoderma and other ectodermal features (woolly hair) with cardiac disorders suggesting arrhythmogenic right ventricular dysplasia/cardiomyopathy
  • echocardiographic evidence of enlargement of the right ventricle and a right ventricular band
  • Genetic determination autosomal recessive
    Prevalence 1/10 000 (accounts for up to 10p100 of unexplained sudden cardiac deaths in individuals <65 years old )
    Function/system disorder cardiovascular
    Type disease
    Gene product
    Name junction plakoglobin
    Genotype/Phenotype correlations
  • homozygous nonsense mutation, p.S24X, and homozygous splice site mutation, c.468G>A, results in skin fragility, diffuse palmoplantar keratoderma, and woolly hair with no symptoms of cardiomyopathy (PMID: 20130592))