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Gaucher disease type 3

ORPHA:77261 · Clinical subtype · Subtype of disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(9)

  • Avascular necrosisHP:0010885
  • EncephalopathyHP:0001298
  • FatigueHP:0012378
  • HepatomegalyHP:0002240
  • Increased susceptibility to fracturesHP:0002659
  • OphthalmoplegiaHP:0000602
  • OsteolysisHP:0002797
  • SplenomegalyHP:0001744
  • StrabismusHP:0000486

Frequent (79-30%)(18)

  • AnemiaHP:0001903
  • AtaxiaHP:0001251
  • Bone painHP:0002653
  • Calcification of the aortaHP:0004963
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • DementiaHP:0000726
  • Gait disturbanceHP:0001288
  • Generalized myoclonic seizureHP:0002123
  • Growth delayHP:0001510
  • Hydrops fetalisHP:0001789
  • Increased bone mineral densityHP:0011001
  • Increased circulating immunoglobulin concentrationHP:0010702
  • OsteopeniaHP:0000938
  • PancytopeniaHP:0001876
  • SeizureHP:0001250
  • Slowed horizontal saccadesHP:0007885
  • ThrombocytopeniaHP:0001873

Occasional (29-5%)(13)

  • Abnormal heart valve morphologyHP:0001654
  • Abnormal myocardium morphologyHP:0001637
  • Abnormal pulmonary interstitial morphologyHP:0006530
  • Abnormality of the dentitionHP:0000164
  • AnodontiaHP:0000674
  • Aortic valve calcificationHP:0004380
  • HematuriaHP:0000790
  • Mitral valve calcificationHP:0004382
  • Pericardial effusionHP:0001698
  • ProteinuriaHP:0000093
  • Pulmonary arterial hypertensionHP:0002092
  • Recurrent respiratory infectionsHP:0002205
  • Short statureHP:0004322