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Hereditary fructose intolerance

ORPHA:469 · Disease · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(2)

  • Abdominal painHP:0002027
  • Reduced circulating aldolase concentrationHP:0012545

Frequent (79-30%)(3)

  • DiarrheaHP:0002014
  • Growth delayHP:0001510
  • NauseaHP:0002018

Occasional (29-5%)(15)

  • Abdominal distentionHP:0003270
  • Abnormality of the coagulation cascadeHP:0003256
  • Chronic hepatic failureHP:0100626
  • Chronic kidney diseaseHP:0012622
  • ConstipationHP:0002019
  • Episodic hyperhidrosisHP:0001069
  • HepatomegalyHP:0002240
  • HypermagnesemiaHP:0002918
  • HyperuricemiaHP:0002149
  • HypophosphatemiaHP:0002148
  • JaundiceHP:0000952
  • Metabolic acidosisHP:0001942
  • Reactive hypoglycemiaHP:0012051
  • Renal insufficiencyHP:0000083
  • VomitingHP:0002013

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

  • CataractHP:0000518
  • ComaHP:0001259
  • LethargyHP:0001254
  • SeizureHP:0001250