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Glycogen storage disease due to liver phosphorylase kinase deficiency

ORPHA:264580 · Disease · Disorder

HPO 表現型（共 51 項）

Very frequent (99-80%)(4)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Abnormal erythrocyte enzyme concentration or activityHP:0030272
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • HepatomegalyHP:0002240

Frequent (79-30%)(8)

  • Fasting hypoglycemiaHP:0003162
  • Growth delayHP:0001510
  • Hepatic fibrosisHP:0001395
  • HypercholesterolemiaHP:0003124
  • HyperketonemiaHP:0410175
  • HypertriglyceridemiaHP:0002155
  • HypoglycemiaHP:0001943
  • KetosisHP:0001946

Occasional (29-5%)(23)

  • CholestasisHP:0001396
  • Delayed gross motor developmentHP:0002194
  • Delayed pubertyHP:0000823
  • DysmenorrheaHP:0100607
  • Elevated circulating creatine kinase activityHP:0003236
  • Exercise intoleranceHP:0003546
  • Failure to thriveHP:0001508
  • FatigueHP:0012378
  • Global developmental delayHP:0001263
  • Hepatic steatosisHP:0001397
  • Increased sarcoplasmic glycogenHP:0030232
  • Intellectual disabilityHP:0001249
  • Irregular menstruationHP:0000858
  • Muscle spasmHP:0003394
  • MyalgiaHP:0003326
  • MyoglobinuriaHP:0002913
  • OligomenorrheaHP:0000876
  • Polycystic ovariesHP:0000147
  • Progressive muscle weaknessHP:0003323
  • Recurrent infectionsHP:0002719
  • Short statureHP:0004322
  • Skeletal muscle atrophyHP:0003202
  • Sleep disturbanceHP:0002360

Very rare (<4-1%)(16)

  • AnemiaHP:0001903
  • CardiomyopathyHP:0001638
  • CirrhosisHP:0001394
  • Delayed speech and language developmentHP:0000750
  • DiarrheaHP:0002014
  • Esophageal varixHP:0002040
  • Hepatocellular adenomaHP:0012028
  • HypotoniaHP:0001252
  • Increased body weightHP:0004324
  • Lactic acidosisHP:0003128
  • NauseaHP:0002018
  • OsteoporosisHP:0000939
  • Portal fibrosisHP:0006580
  • Renal tubular acidosisHP:0001947
  • SplenomegalyHP:0001744
  • VomitingHP:0002013