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Glycogen storage disease due to liver glycogen phosphorylase deficiency

ORPHA:369 · Disease · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(2)

  • HepatomegalyHP:0002240
  • Increased hepatic glycogen contentHP:0006568

Frequent (79-30%)(8)

  • Delayed pubertyHP:0000823
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Failure to thriveHP:0001508
  • Growth delayHP:0001510
  • HypoglycemiaHP:0001943
  • KetosisHP:0001946
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939

Occasional (29-5%)(12)

  • Abdominal distentionHP:0003270
  • Exercise-induced muscle crampsHP:0003710
  • Hepatic fibrosisHP:0001395
  • HyperlipidemiaHP:0003077
  • HypotoniaHP:0001252
  • Intermittent lactic acidemiaHP:0004913
  • IrritabilityHP:0000737
  • Motor delayHP:0001270
  • Portal fibrosisHP:0006580
  • Postexertional symptom exacerbationHP:0030973
  • Short statureHP:0004322
  • Sleep disturbanceHP:0002360

Very rare (<4-1%)(6)

  • Abnormality of the kidneyHP:0000077
  • CirrhosisHP:0001394
  • Hepatocellular carcinomaHP:0001402
  • Hypertrophic cardiomyopathyHP:0001639
  • Postprandial hyperlactemiaHP:0011997
  • ProteinuriaHP:0000093