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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)