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Primary triglyceride deposit cardiomyovasculopathy

ORPHA:565612 · Etiological subtype · Subtype of disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(5)

  • Abnormal cardiomyocyte morphologyHP:0031331
  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Increased muscle lipid contentHP:0009058
  • Skeletal myopathyHP:0003756
  • Vacuolated lymphocytesHP:0001922

Frequent (79-30%)(15)

  • Abnormal calf musculature morphologyHP:0001430
  • Abnormality of the shoulder girdle musculatureHP:0001435
  • Angina pectorisHP:0001681
  • ArrhythmiaHP:0011675
  • CardiomyopathyHP:0001638
  • Coronary artery atherosclerosisHP:0001677
  • Coronary artery stenosisHP:0005145
  • Diabetes mellitusHP:0000819
  • DyspneaHP:0002094
  • Elevated circulating creatine kinase activityHP:0003236
  • HepatomegalyHP:0002240
  • HyperlipidemiaHP:0003077
  • Low-output congestive heart failureHP:0009805
  • PalpitationsHP:0001962
  • Precordial painHP:0032141

Occasional (29-5%)(6)

  • Inflammatory abnormality of the skinHP:0011123
  • Intellectual disabilityHP:0001249
  • PancreatitisHP:0001733
  • Renal artery atherosclerosisHP:0031684
  • Rimmed vacuolesHP:0003805
  • Sensorineural hearing impairmentHP:0000407

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

  • Abnormality of the eyeHP:0000478
  • SplenomegalyHP:0001744

Excluded (0%)(1)

  • IchthyosisHP:0008064