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Chronic visceral acid sphingomyelinase deficiency

ORPHA:77293 · Disease · Disorder

HPO 表現型（共 47 項）

Frequent (79-30%)(20)

  • Abnormal blood gas levelHP:0012415
  • Abnormal circulating lipid concentrationHP:0003119
  • Abnormal pulmonary interstitial morphologyHP:0006530
  • Cherry red spot of the maculaHP:0010729
  • Decreased circulating HDL-C concentrationHP:0003233
  • Decreased liver functionHP:0001410
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • Elevated circulating LDL-C concentrationHP:0003141
  • HepatomegalyHP:0002240
  • HyperlipidemiaHP:0003077
  • HypersplenismHP:0001971
  • HypertriglyceridemiaHP:0002155
  • Interstitial pneumonitisHP:0006515
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Progressive pulmonary function impairmentHP:0006520
  • Short statureHP:0004322
  • SplenomegalyHP:0001744
  • ThrombocytopeniaHP:0001873

Occasional (29-5%)(5)

  • Abnormality of the nervous systemHP:0000707
  • Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
  • Delayed gross motor developmentHP:0002194
  • Peripheral neuropathyHP:0009830
  • Respiratory failure requiring assisted ventilationHP:0004887

Very rare (<4-1%)(22)

  • Abnormal bleedingHP:0001892
  • Abnormal cerebellum morphologyHP:0001317
  • Abnormal heart valve morphologyHP:0001654
  • Acute promyelocytic leukemiaHP:0004836
  • ApraxiaHP:0002186
  • AtaxiaHP:0001251
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • Autoimmune thrombocytopeniaHP:0001973
  • Bipolar affective disorderHP:0007302
  • CholelithiasisHP:0001081
  • CirrhosisHP:0001394
  • Coronary artery atherosclerosisHP:0001677
  • DepressionHP:0000716
  • Generalized non-motor (absence) seizureHP:0002121
  • Hepatic failureHP:0001399
  • Intellectual disabilityHP:0001249
  • Neoplasm of the liverHP:0002896
  • NystagmusHP:0000639
  • Pathologic fractureHP:0002756
  • Specific learning disabilityHP:0001328
  • Systemic lupus erythematosusHP:0002725