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GENATLAS PHENOTYPE

last update : 19-05-2010

Symbol	ARCS2
Location	14q24.3
Name	arthrogryposis, renal dysfunction, and cholestasis 2
Corresponding gene	VIPAR
Main clinical features	arthrogryposis multiplex congenita with jaundice and renal dysfunction, with early death, and at autopsy rarefaction of the anterior horn of the spinal cord, renal tubular cell degeneration with nephrocalcinosis, and abundant pigmentary deposits in the liver multisystem disorder that affects the development and function of several organs, particularly the liver and kidney
Genetic determination	autosomal recessive
Function/system disorder	kidney and urinary tract
	neurology
Type	disease

Remark(s)