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ATTRV122I amyloidosis

ORPHA:85451 · Clinical subtype · Subtype of disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(5)

  • Abnormal EKGHP:0003115
  • Atrial arrhythmiaHP:0001692
  • Cardiac amyloidosisHP:0030843
  • Elevated circulating NT-proBNP concentrationHP:0031185
  • Increased circulating troponin T concentrationHP:0410174

Frequent (79-30%)(6)

  • Abnormal atrioventricular conductionHP:0005150
  • ArrhythmiaHP:0011675
  • CardiomegalyHP:0001640
  • Hypertrophic cardiomyopathyHP:0001639
  • Reduced left ventricular ejection fractionHP:0012664
  • Restrictive cardiomyopathyHP:0001723

Occasional (29-5%)(11)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Abnormal enteric nervous system morphologyHP:0025028
  • AnemiaHP:0001903
  • Angina pectorisHP:0001681
  • Congestive heart failureHP:0001635
  • Constrictive median neuropathyHP:0012185
  • Left ventricular hypertrophyHP:0001712
  • Spinal canal stenosisHP:0003416
  • StrokeHP:0001297
  • Tendon ruptureHP:0100550
  • ThromboembolismHP:0001907

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

  • Aortic valve stenosisHP:0001650
  • Peripheral neuropathyHP:0009830
  • PolyneuropathyHP:0001271