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UMOD-related autosomal dominant tubulointerstitial kidney disease

Disease definition

A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to UMOD mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals.

ORPHA:88950

Classification level: Subtype of disorder
  • Synonym(s):
    • ADTKD-UMOD
    • Familial juvenile hyperuricemic nephropathy type 1
    • MCKD2
    • Medullary cystic kidney disease type 2
    • UMOD-related ADTKD
    • Uromodulin-associated kidney disease
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult, Adolescent
  • ICD-10: Q61.5
  • OMIM: 162000
  • UMLS: -
  • MeSH: -
  • GARD: 10679
  • MedDRA: -

Detailed information

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