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GENATLAS PHENOTYPE

last update : 25-08-2016

Symbol	UAKD2
Location	1q32.1
Name	uromodulin-associated kidney disease 2
Other name(s)	Hyperuricemic nephropathy, familial juvenile 2
Corresponding gene	REN
Other symbol(s)	HNFJ2
Main clinical features	hyperuricemia, gouty arthritis, medullary cysts, and progressive renal insufficiency early onset anemia, hypouricosuric hyperuricemia, progressive kidney failure
Genetic determination	autosomal dominant
Function/system disorder	kidney and urinary tract
Type	disease

Remark(s)

mutations affect ER translocation and processing of nascent preprorenin, resulting either in reduced (p.Leu16del) or abolished (p.Leu16Arg) prorenin and renin biosynthesis and secretion (Zivna 2009)