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MUC1-related autosomal dominant tubulointerstitial kidney disease

Disease definition

A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to MUC1 mutations characterized clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years.


Classification level: Subtype of disorder
  • Synonym(s):
    • ADTKD-MUC1
    • MCKD1
    • MUC1-related medullary cystic kidney disease
    • MUCI-related ADTKD
    • Medullary cystic kidney disease type 1
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: Q61.5
  • ICD-11: GB82
  • OMIM: 174000
  • UMLS: -
  • MeSH: C536137
  • GARD: 7002
  • MedDRA: -

Detailed information


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