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Infantile neurovisceral acid sphingomyelinase deficiency

ORPHA:77292 · Disease · Disorder

HPO 表現型（共 27 項）

Obligate (100%)(1)

  • Decreased acid sphingomyelinase activityHP:0034300

Very frequent (99-80%)(5)

  • Abnormal pulmonary interstitial morphologyHP:0006530
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Elevated tissue sphingomyelin concentrationHP:6000292
  • Failure to thrive in infancyHP:0001531
  • HepatosplenomegalyHP:0001433

Frequent (79-30%)(11)

  • Abnormality of the coagulation cascadeHP:0003256
  • AnemiaHP:0001903
  • Cherry red spot of the maculaHP:0010729
  • Developmental stagnationHP:0007281
  • Fatal liver failure in infancyHP:0006583
  • Foam cells with lamellar inclusion bodiesHP:0003609
  • HypotoniaHP:0001252
  • Motor delayHP:0001270
  • Progressive neurologic deteriorationHP:0002344
  • Recurrent respiratory infectionsHP:0002205
  • Respiratory failureHP:0002878

Occasional (29-5%)(10)

  • Abdominal distentionHP:0003270
  • AscitesHP:0001541
  • ConstipationHP:0002019
  • Decreased circulating HDL-C concentrationHP:0003233
  • DiarrheaHP:0002014
  • Episodic vomitingHP:0002572
  • IrritabilityHP:0000737
  • JaundiceHP:0000952
  • Postnatal growth retardationHP:0008897
  • Sleep disturbanceHP:0002360