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Hyperuricemia-anemia-renal failure syndrome

Disease definition

Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).

ORPHA:217330

  • Synonym(s):
    • FJHN type 2
    • Familial juvenile hyperuricemic nephropathy type 2
    • REN-associated FJHN
    • REN-associated familial juvenile hyperuricemic nephropathy
    • REN-associated kidney disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 613092
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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