← 返回搜尋

Fanconi-Bickel syndrome

ORPHA:2088 · Disease · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(8)

  • Abnormal hepatic glycogen storageHP:0500030
  • Failure to thriveHP:0001508
  • Galactose intoleranceHP:0004919
  • HyperphosphaturiaHP:0003109
  • HypophosphatemiaHP:0002148
  • Impaired glucose toleranceHP:0040270
  • Increased hepatic glycogen contentHP:0006568
  • Renal tubular acidosisHP:0001947

Frequent (79-30%)(9)

  • Abdominal distentionHP:0003270
  • Fasting hypoglycemiaHP:0003162
  • GlycosuriaHP:0003076
  • Growth delayHP:0001510
  • HepatomegalyHP:0002240
  • HypercalciuriaHP:0002150
  • Metabolic acidosisHP:0001942
  • Postprandial hyperglycemiaHP:0011998
  • RicketsHP:0002748

Occasional (29-5%)(12)

  • Bone fractureHP:0020110
  • Bowing of the long bonesHP:0006487
  • Diabetes mellitusHP:0000819
  • Elevated circulating alanine aminotransferase concentrationHP:0031964
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • Elevated circulating aspartate aminotransferase concentrationHP:0031956
  • Generalized aminoaciduriaHP:0002909
  • Hepatic failureHP:0001399
  • HypertriglyceridemiaHP:0002155
  • NephrocalcinosisHP:0000121
  • NephropathyHP:0000112
  • OsteopeniaHP:0000938

Very rare (<4-1%)(2)

  • Doll-like faciesHP:0000295
  • Hepatocellular carcinomaHP:0001402