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Glycogen storage disease due to aldolase A deficiency

ORPHA:57 · Disease · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(2)

  • FeverHP:0001945
  • Reduced circulating aldolase concentrationHP:0012545

Frequent (79-30%)(9)

  • Elevated creatine kinase after exerciseHP:0008331
  • EMG: myopathic abnormalitiesHP:0003458
  • Exercise-induced rhabdomyolysisHP:0009045
  • Hemolytic anemiaHP:0001878
  • Muscle fiber atrophyHP:0100295
  • Muscle weaknessHP:0001324
  • MyalgiaHP:0003326
  • Skeletal myopathyHP:0003756
  • Viral infection-induced rhabdomyolysisHP:0003558

Occasional (29-5%)(10)

  • Acute kidney injuryHP:0001919
  • ArrhythmiaHP:0011675
  • Decreased muscle massHP:0003199
  • Delayed speech and language developmentHP:0000750
  • Growth delayHP:0001510
  • HyperkalemiaHP:0002153
  • Intellectual disabilityHP:0001249
  • Motor delayHP:0001270
  • MyoglobinuriaHP:0002913
  • Specific learning disabilityHP:0001328