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Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

ORPHA:79240 · Disease · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(4)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • HepatomegalyHP:0002240
  • HypertriglyceridemiaHP:0002155
  • Postnatal growth retardationHP:0008897

Frequent (79-30%)(4)

  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Fasting hypoglycemiaHP:0003162
  • Hepatic fibrosisHP:0001395
  • HypercholesterolemiaHP:0003124

Occasional (29-5%)(24)

  • CirrhosisHP:0001394
  • Delayed gross motor developmentHP:0002194
  • Delayed speech and language developmentHP:0000750
  • DysmenorrheaHP:0100607
  • Elevated circulating creatine kinase activityHP:0003236
  • Exercise intoleranceHP:0003546
  • FatigueHP:0012378
  • HypotoniaHP:0001252
  • Irregular menstruationHP:0000858
  • Ketotic hypoglycemiaHP:0012734
  • Limb-girdle muscle weaknessHP:0003325
  • Mild global developmental delayHP:0011342
  • Muscle spasmHP:0003394
  • MyalgiaHP:0003326
  • OligomenorrheaHP:0000876
  • Pelvic girdle muscle weaknessHP:0003749
  • Polycystic ovariesHP:0000147
  • Progressive muscle weaknessHP:0003323
  • Recurrent hypoglycemiaHP:0001988
  • Recurrent infectionsHP:0002719
  • Renal tubular acidosisHP:0001947
  • Short statureHP:0004322
  • Skeletal muscle atrophyHP:0003202
  • SplenomegalyHP:0001744

Very rare (<4-1%)(11)

  • AnemiaHP:0001903
  • DiarrheaHP:0002014
  • Hepatocellular adenomaHP:0012028
  • Hepatocellular carcinomaHP:0001402
  • Increased body weightHP:0004324
  • Lactic acidosisHP:0003128
  • MyoglobinuriaHP:0002913
  • NauseaHP:0002018
  • OsteoporosisHP:0000939
  • RhabdomyolysisHP:0003201
  • VomitingHP:0002013