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HNF1B-related autosomal dominant tubulointerstitial kidney disease

Disease definition

Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.


Classification level: Subtype of disorder
  • Synonym(s):
    • HNF1B-MODY
    • MODY5
    • Maturity-onset diabetes of the young type 5
    • RCAD syndrome
    • Renal cysts and diabetes syndrome
    • Renal dysfunction-early-onset diabetes syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: N11.8
  • OMIM: 137920  616026
  • UMLS: C0431693  C2959918
  • MeSH: C535520
  • GARD: 10221
  • MedDRA: -

Detailed information


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