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Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

ORPHA:79259 · Clinical subtype · Subtype of disorder

HPO 表現型（共 61 項）

Very frequent (99-80%)(12)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Growth delayHP:0001510
  • HepatomegalyHP:0002240
  • HypercholesterolemiaHP:0003124
  • HyperlipidemiaHP:0003077
  • HypertriglyceridemiaHP:0002155
  • HyperuricemiaHP:0002149
  • HypoglycemiaHP:0001943
  • Increased hepatic glycogen contentHP:0006568
  • Lactic acidosisHP:0003128
  • Protuberant abdomenHP:0001538
  • Short statureHP:0004322

Frequent (79-30%)(17)

  • Abnormal myeloid leukocyte morphologyHP:0010974
  • Decreased circulating vitamin D concentrationHP:0100512
  • Enlarged kidneyHP:0000105
  • Failure to thriveHP:0001508
  • Full cheeksHP:0000293
  • Global developmental delayHP:0001263
  • Hepatic steatosisHP:0001397
  • Irregular menstruationHP:0000858
  • Motor delayHP:0001270
  • OsteoporosisHP:0000939
  • PancreatitisHP:0001733
  • Persistently decreased total neutrophil countHP:0410252
  • Polycystic ovariesHP:0000147
  • Recurrent bacterial infectionsHP:0002718
  • Round faceHP:0000311
  • ThyroiditisHP:0100646
  • Ulcerative colitisHP:0100279

Occasional (29-5%)(29)

  • Abnormal bleedingHP:0001892
  • Abnormality of von Willebrand factorHP:0012146
  • AnemiaHP:0001903
  • Bruising susceptibilityHP:0000978
  • Carious teethHP:0000670
  • Cognitive impairmentHP:0100543
  • Delayed eruption of permanent teethHP:0000696
  • Delayed pubertyHP:0000823
  • DiarrheaHP:0002014
  • EnterocolitisHP:0004387
  • EpistaxisHP:0000421
  • GingivitisHP:0000230
  • Hepatocellular adenomaHP:0012028
  • HypertensionHP:0000822
  • Hypoglycemic seizuresHP:0002173
  • HypothyroidismHP:0000821
  • Increased susceptibility to fracturesHP:0002659
  • Inflammation of the large intestineHP:0002037
  • Kidney stoneHP:0000787
  • MenorrhagiaHP:0000132
  • NephrocalcinosisHP:0000121
  • Oral ulcerHP:0000155
  • OsteopeniaHP:0000938
  • PeriodontitisHP:0000704
  • Prolonged bleeding following procedureHP:0011890
  • ProteinuriaHP:0000093
  • Pulmonary venous hypertensionHP:0030950
  • Tubulointerstitial fibrosisHP:0005576
  • XanthelasmaHP:0001114

Very rare (<4-1%)(3)

  • GoutHP:0001997
  • Hepatocellular carcinomaHP:0001402
  • Stage 5 chronic kidney diseaseHP:0003774