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Congenital bile acid synthesis defect type 2

ORPHA:79303 · Disease · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(3)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Giant cell hepatitisHP:0200084
  • HyperbilirubinemiaHP:0002904

Frequent (79-30%)(21)

  • Abnormal serum bile acid concentrationHP:0030984
  • Abnormality of the coagulation cascadeHP:0003256
  • CholestasisHP:0001396
  • Conjugated hyperbilirubinemiaHP:0002908
  • Dark urineHP:0040319
  • Decreased circulating vitamin E concentrationHP:0100513
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Extramedullary hematopoiesisHP:0001978
  • Failure to thriveHP:0001508
  • Fat malabsorptionHP:0002630
  • Hepatic failureHP:0001399
  • Hepatic steatosisHP:0001397
  • HepatomegalyHP:0002240
  • Increased circulating lactate dehydrogenase concentrationHP:0025435
  • JaundiceHP:0000952
  • Postnatal growth retardationHP:0008897
  • Prolonged neonatal jaundiceHP:0006579
  • Prolonged partial thromboplastin timeHP:0003645
  • Prolonged prothrombin timeHP:0008151
  • SteatorrheaHP:0002570

Occasional (29-5%)(3)

  • Abnormal intrahepatic bile duct morphologyHP:0011040
  • Renal cystHP:0000107
  • RicketsHP:0002748