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GENATLAS PHENOTYPE

last update : 22/04/2008

Symbol	ARVD5
Location	3p23
HGNC id	733
Name	arrhythmogenic right ventricular dysplasia, familial, 5
Other name(s)	arrhythmogenic right ventricular cardiomyopathy 5
Corresponding gene	TMEM43
Other symbol(s)	ARVC5
Main clinical features	characterized by highly variable phenotype including ventricular tachycardia, supraventricular arrhythmias, right heart failure or asymptomatic cardiomegaly with a high risk of sudden death, morphologically a gradual loss of myocytes initiating in the epicardum of right ventricular, replaced by adipose and fibrous tissue, thinning of the wall
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	in a highly conserved transmembrane domain