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Gaucher disease

ORPHA:355 · Disease · Disorder

HPO 表現型（共 93 項）

Very frequent (99-80%)(5)

  • AnemiaHP:0001903
  • Decreased beta-glucocerebrosidase levelHP:0003656
  • FatigueHP:0012378
  • HepatomegalyHP:0002240
  • SplenomegalyHP:0001744

Frequent (79-30%)(30)

  • Abdominal painHP:0002027
  • Abnormal bone structureHP:0003330
  • Abnormality of movementHP:0100022
  • Abnormality of the skeletal systemHP:0000924
  • ArthralgiaHP:0002829
  • AtaxiaHP:0001251
  • Avascular necrosisHP:0010885
  • Bilateral tonic-clonic seizureHP:0002069
  • Bone painHP:0002653
  • CholelithiasisHP:0001081
  • Decreased total leukocyte countHP:0001882
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • DepressionHP:0000716
  • Developmental regressionHP:0002376
  • DysphagiaHP:0002015
  • Elevated circulating angiotensin-converting enzyme concentrationHP:6000213
  • Elevated circulating CCL18 concentrationHP:0032640
  • Erlenmeyer flask deformity of the femursHP:0004975
  • Feeding difficulties in infancyHP:0008872
  • FeverHP:0001945
  • Generalized myoclonic seizureHP:0002123
  • Growth delayHP:0001510
  • Increased circulating ferritin concentrationHP:0003281
  • Intellectual disabilityHP:0001249
  • Joint dislocationHP:0001373
  • OsteopeniaHP:0000938
  • Recurrent fracturesHP:0002757
  • StrabismusHP:0000486
  • ThrombocytopeniaHP:0001873

Occasional (29-5%)(55)

  • Abnormal bleedingHP:0001892
  • Abnormal heart valve morphologyHP:0001654
  • Abnormal macular morphologyHP:0001103
  • Abnormal myocardium morphologyHP:0001637
  • Abnormal pericardium morphologyHP:0001697
  • Abnormal pulmonary interstitial morphologyHP:0006530
  • Abnormal skin pigmentationHP:0001000
  • Abnormality of coagulationHP:0001928
  • Abnormality of extrapyramidal motor functionHP:0002071
  • Aortic valve calcificationHP:0004380
  • Arthrogryposis multiplex congenitaHP:0002804
  • Cherry red spot of the maculaHP:0010729
  • CirrhosisHP:0001394
  • Corneal opacityHP:0007957
  • Cranial nerve paralysisHP:0006824
  • Death in infancyHP:0001522
  • Decreased circulating HDL-C concentrationHP:0003233
  • DementiaHP:0000726
  • Elevated circulating C-reactive protein concentrationHP:0011227
  • Gingival bleedingHP:0000225
  • Hearing impairmentHP:0000365
  • HematuriaHP:0000790
  • Hemiplegia/hemiparesisHP:0004374
  • Hepatic fibrosisHP:0001395
  • HepatitisHP:0012115
  • HydrocephalusHP:0000238
  • Hydrops fetalisHP:0001789
  • HypotoniaHP:0001252
  • IchthyosisHP:0008064
  • Increased bone mineral densityHP:0011001
  • Increased circulating immunoglobulin concentrationHP:0010702
  • Joint stiffnessHP:0001387
  • KyphosisHP:0002808
  • Mitral valve calcificationHP:0004382
  • Multiple myelomaHP:0006775
  • Oculomotor apraxiaHP:0000657
  • OpisthotonusHP:0002179
  • OsteoarthritisHP:0002758
  • OsteolysisHP:0002797
  • OsteomyelitisHP:0002754
  • OsteoporosisHP:0000939
  • PancytopeniaHP:0001876
  • ParaproteinemiaHP:0031047
  • ParkinsonismHP:0001300
  • Pathologic fractureHP:0002756
  • Polyclonal elevation of circulating IgM concentrationHP:0003459
  • ProteinuriaHP:0000093
  • Pulmonary arterial hypertensionHP:0002092
  • Pulmonary fibrosisHP:0002206
  • Respiratory insufficiencyHP:0002093
  • RetinopathyHP:0000488
  • Sensorimotor neuropathyHP:0007141
  • Short statureHP:0004322
  • TremorHP:0001337
  • VentriculomegalyHP:0002119

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

  • Hepatic failureHP:0001399
  • Splenic infarctionHP:0034336
  • Splenic ruptureHP:0012223