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Caroli disease

ORPHA:53035 · Malformation syndrome · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(1)

  • CholestasisHP:0001396

Frequent (79-30%)(7)

  • Abdominal painHP:0002027
  • CholangitisHP:0030151
  • Conjugated hyperbilirubinemiaHP:0002908
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • Elevated gamma-glutamyltransferase levelHP:0030948
  • Intrahepatic cholestasisHP:0001406
  • JaundiceHP:0000952

Occasional (29-5%)(18)

  • Abdominal rigidityHP:0032545
  • AnorexiaHP:0002039
  • AscitesHP:0001541
  • ChillsHP:0025143
  • CholelithiasisHP:0001081
  • CirrhosisHP:0001394
  • Conjunctival icterusHP:0032106
  • Elevated circulating alanine aminotransferase concentrationHP:0031964
  • Esophageal varixHP:0002040
  • FeverHP:0001945
  • HepatomegalyHP:0002240
  • Increased total leukocyte countHP:0001974
  • NauseaHP:0002018
  • Polycystic kidney dysplasiaHP:0000113
  • PruritusHP:0000989
  • SplenomegalyHP:0001744
  • VomitingHP:0002013
  • Weight lossHP:0001824

Very rare (<4-1%)(5)

  • Biliary cirrhosisHP:0002613
  • CholangiocarcinomaHP:0030153
  • Hepatic fibrosisHP:0001395
  • Liver abscessHP:0100523
  • Portal hypertensionHP:0001409

Excluded (0%)(2)

  • Abnormal circulating alpha-fetoprotein concentrationHP:0045056
  • Periportal fibrosisHP:0001405