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HNF1B-related autosomal dominant tubulointerstitial kidney disease

Disease definition

A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in or whole gene deletions of HNF1B, which is characterized by chronic tubulo-interstitial nephritis, that manifests with nonsignificant urinalysis and slowly progressive renal failure. It can be associated with cystic kidney dysplasia, early onset diabetes and extrarenal manifestations.


Classification level: Subtype of disorder
  • Synonym(s):
    • HNF1B-MODY
    • HNF1B-related nephropathy
    • MODY5
    • Maturity-onset diabetes of the young type 5
    • RCAD syndrome
    • Renal cysts and diabetes syndrome
    • Renal dysfunction-early-onset diabetes syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent, Adult, Antenatal, Neonatal, Infancy
  • ICD-10: N11.8
  • ICD-11: 5A13.6
  • OMIM: 137920
  • UMLS: C0431693
  • MeSH: C535520
  • GARD: 10221
  • MedDRA: -

Detailed information


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