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GENATLAS PHENOTYPE

last update : 25-03-2011

Symbol	ARVDPPK
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

Remark(s)

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))