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HNF1B-related autosomal dominant tubulointerstitial kidney disease

ORPHA:93111 · Clinical subtype · Subtype of disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(2)

  • Multicystic kidney dysplasiaHP:0000003
  • Renal insufficiencyHP:0000083

Frequent (79-30%)(1)

  • Diabetes mellitusHP:0000819

Occasional (29-5%)(26)

  • Abnormality of endocrine pancreas physiologyHP:0012093
  • Abnormality of exocrine pancreas physiologyHP:0012092
  • Absent vas deferensHP:0012873
  • Acute kidney injuryHP:0001919
  • Aplasia/Hypoplasia of the pancreasHP:0100800
  • ArthritisHP:0001369
  • Bicornuate uterusHP:0000813
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Global developmental delayHP:0001263
  • GlomerulopathyHP:0100820
  • Hearing impairmentHP:0000365
  • Hepatic steatosisHP:0001397
  • Horseshoe kidneyHP:0000085
  • HyperuricemiaHP:0002149
  • HypospadiasHP:0000047
  • HypothyroidismHP:0000821
  • Intellectual disabilityHP:0001249
  • JaundiceHP:0000952
  • Joint hypermobilityHP:0001382
  • Mandibular prognathiaHP:0000303
  • Papillary cystadenoma of the epididymisHP:0009715
  • PolydipsiaHP:0001959
  • Pyloric stenosisHP:0002021
  • Renal agenesisHP:0000104
  • Renal cell carcinomaHP:0005584
  • Renal Fanconi syndromeHP:0001994