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GENATLAS PHENOTYPE
last update : 25-08-2016
Symbol FJHN
Location 16p12.3
Name familial juvenile hyperuricemic nephropathy
Other name(s) Gouty nephropathy, familial juvenile
Corresponding gene UMOD
Other symbol(s) HNFJ, UAKD, HNFJ1
Main clinical features
  • polyuria, progressive renal failure, and abnormal urate handling, which leads to hyperuricemia and gout and to renal failure in absence of allopurinol therapy
  • hyperuricemia, gout, renal insufficiency, arterial hypertension, and reduced kidney size
    • Genetic determination autosomal dominant
    Function/system disorder kidney and urinary tract
    Type disease
    Gene product
    Name uromodulin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     mutation in the D8C at Cys217 with disruption of the disulfide bridge
    Remark(s)
  • 88p 100 mutations are missense, and 62p 100 alter a cysteine residue, implicating a role for protein misfolding in the disease, with accumulation of misfolded proteins within the ER that may be associated with apoptosis(Williams 2009)