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Isolated polycystic liver disease

ORPHA:2924 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(3)

  • Abdominal distentionHP:0003270
  • HepatomegalyHP:0002240
  • Polycystic liver diseaseHP:0006557

Frequent (79-30%)(2)

  • Early satietyHP:0033842
  • Multiple renal cystsHP:0005562

Occasional (29-5%)(17)

  • Abdominal painHP:0002027
  • Abnormal heart valve morphologyHP:0001654
  • Abnormality of the pancreasHP:0001732
  • Abnormality of the respiratory systemHP:0002086
  • Back painHP:0003418
  • Dilatation of the cerebral arteryHP:0004944
  • DyspneaHP:0002094
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • Elevated gamma-glutamyltransferase levelHP:0030948
  • Feeding difficulties in infancyHP:0008872
  • Gastroesophageal refluxHP:0002020
  • Gastrointestinal hemorrhageHP:0002239
  • Increased total bilirubinHP:0003573
  • JaundiceHP:0000952
  • Pedal edemaHP:0010741
  • Respiratory insufficiencyHP:0002093
  • Vascular dilatationHP:0002617