← 返回搜尋

Caroli syndrome

ORPHA:480520 · Malformation syndrome · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(2)

  • Abnormal intrahepatic bile duct morphologyHP:0011040
  • Intrahepatic cholestasisHP:0001406

Frequent (79-30%)(11)

  • Abdominal painHP:0002027
  • Abdominal rigidityHP:0032545
  • Abnormality of the kidneyHP:0000077
  • ChillsHP:0025143
  • CholangitisHP:0030151
  • Conjugated hyperbilirubinemiaHP:0002908
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • FeverHP:0001945
  • HepatomegalyHP:0002240
  • HyperbilirubinemiaHP:0002904
  • JaundiceHP:0000952

Occasional (29-5%)(22)

  • Abnormal bleedingHP:0001892
  • Abnormal ductus choledochus morphologyHP:0100889
  • CholangiocarcinomaHP:0030153
  • CirrhosisHP:0001394
  • Congenital hepatic fibrosisHP:0002612
  • Conjunctival icterusHP:0032106
  • Decreased total leukocyte countHP:0001882
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Elevated erythrocyte sedimentation rateHP:0003565
  • Esophageal varixHP:0002040
  • HematemesisHP:0002248
  • Hepatic failureHP:0001399
  • HypersplenismHP:0001971
  • Increased total leukocyte countHP:0001974
  • Liver abscessHP:0100523
  • MelenaHP:0002249
  • PancreatitisHP:0001733
  • Polycystic kidney dysplasiaHP:0000113
  • Portal hypertensionHP:0001409
  • PruritusHP:0000989
  • SepsisHP:0100806
  • ThrombocytopeniaHP:0001873

Excluded (0%)(1)

  • Periportal fibrosisHP:0001405