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Gaucher disease type 1

ORPHA:77259 · Clinical subtype · Subtype of disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(13)

  • AnorexiaHP:0002039
  • Avascular necrosisHP:0010885
  • Bone painHP:0002653
  • Decreased beta-glucocerebrosidase levelHP:0003656
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • Growth delayHP:0001510
  • HepatomegalyHP:0002240
  • HypersplenismHP:0001971
  • OsteolysisHP:0002797
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • SplenomegalyHP:0001744

Frequent (79-30%)(10)

  • Abdominal painHP:0002027
  • Abnormality of coagulationHP:0001928
  • AnemiaHP:0001903
  • Bruising susceptibilityHP:0000978
  • Gingival bleedingHP:0000225
  • HepatosplenomegalyHP:0001433
  • Increased circulating ferritin concentrationHP:0003281
  • PancytopeniaHP:0001876
  • PingueculaHP:0031830
  • ThrombocytopeniaHP:0001873

Occasional (29-5%)(22)

  • Abnormal bleedingHP:0001892
  • Abnormal pulmonary interstitial morphologyHP:0006530
  • AscitesHP:0001541
  • Biliary tract obstructionHP:0005230
  • CholelithiasisHP:0001081
  • Decreased circulating HDL-C concentrationHP:0003233
  • Decreased total leukocyte countHP:0001882
  • DepressionHP:0000716
  • Elevated circulating CCL18 concentrationHP:0032640
  • Erlenmeyer flask deformity of the femursHP:0004975
  • HematuriaHP:0000790
  • Increased circulating immunoglobulin concentrationHP:0010702
  • Multiple myelomaHP:0006775
  • OsteoarthritisHP:0002758
  • Pathologic fractureHP:0002756
  • Portal hypertensionHP:0001409
  • Pulmonary arterial hypertensionHP:0002092
  • Sensorimotor neuropathyHP:0007141
  • Short statureHP:0004322
  • Spinal cord compressionHP:0002176
  • Splenic infarctionHP:0034336
  • Vertebral compression fractureHP:0002953

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

  • CirrhosisHP:0001394
  • Hepatic failureHP:0001399
  • ParkinsonismHP:0001300
  • Splenic ruptureHP:0012223