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Chronic neurovisceral acid sphingomyelinase deficiency

ORPHA:618891 · Disease · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(5)

  • Abnormal pulmonary interstitial morphologyHP:0006530
  • Decreased acid sphingomyelinase activityHP:0034300
  • Hepatic failureHP:0001399
  • HepatosplenomegalyHP:0001433
  • HypersplenismHP:0001971

Frequent (79-30%)(10)

  • Abdominal distentionHP:0003270
  • AnemiaHP:0001903
  • AtaxiaHP:0001251
  • Cherry red spot of the maculaHP:0010729
  • Delayed skeletal maturationHP:0002750
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Growth delayHP:0001510
  • Mental deteriorationHP:0001268
  • Recurrent pneumoniaHP:0006532
  • ThrombocytopeniaHP:0001873

Occasional (29-5%)(21)

  • Abdominal painHP:0002027
  • Abnormality of extrapyramidal motor functionHP:0002071
  • AscitesHP:0001541
  • Coarse facial featuresHP:0000280
  • Decreased circulating HDL-C concentrationHP:0003233
  • DementiaHP:0000726
  • Depressed nasal bridgeHP:0005280
  • Elevated circulating LDL-C concentrationHP:0003141
  • Failure to thriveHP:0001508
  • Hepatic fibrosisHP:0001395
  • HypertriglyceridemiaHP:0002155
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Low-set earsHP:0000369
  • Mild intellectual disabilityHP:0001256
  • Neurodevelopmental delayHP:0012758
  • NystagmusHP:0000639
  • OsteopeniaHP:0000938
  • SeizureHP:0001250
  • Short statureHP:0004322
  • SpasticityHP:0001257

Very rare (<4-1%)(2)

  • MacroglossiaHP:0000158
  • Sensorineural hearing impairmentHP:0000407