← 返回搜尋

Hereditary ATTR amyloidosis

ORPHA:271861 · Disease · Disorder

HPO 表現型（共 44 項）

Frequent (79-30%)(22)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • AnhidrosisHP:0000970
  • ArrhythmiaHP:0011675
  • Cardiac transthyretin amyloid depositionHP:0031327
  • Congestive heart failureHP:0001635
  • ConstipationHP:0002019
  • Constrictive median neuropathyHP:0012185
  • DiarrheaHP:0002014
  • GastroparesisHP:0002578
  • GlaucomaHP:0000501
  • Heart blockHP:0012722
  • ImpotenceHP:0000802
  • Keratoconjunctivitis siccaHP:0001097
  • Left ventricular hypertrophyHP:0001712
  • Nausea and vomitingHP:0002017
  • NephropathyHP:0000112
  • Orthostatic hypotension due to autonomic dysfunctionHP:0004926
  • Restrictive cardiomyopathyHP:0001723
  • Sensorimotor neuropathyHP:0007141
  • Skeletal muscle atrophyHP:0003202
  • Urinary retentionHP:0000016
  • Vitreous floatersHP:0100832

Occasional (29-5%)(21)

  • Abnormal pupil shapeHP:0025309
  • AcroparesthesiaHP:0031006
  • Aortic valve stenosisHP:0001650
  • Atrial fibrillationHP:0005110
  • Cerebral amyloid angiopathyHP:0011970
  • Decreased QRS voltageHP:0025077
  • Elevated circulating NT-proBNP concentrationHP:0031185
  • FatigueHP:0012378
  • Foot dorsiflexor weaknessHP:0009027
  • HypoesthesiaHP:0033748
  • Impaired temperature sensationHP:0010829
  • Increased circulating troponin T concentrationHP:0410174
  • Lumbar spinal canal stenosisHP:0004610
  • Muscle weaknessHP:0001324
  • Nephrotic syndromeHP:0000100
  • PainHP:0012531
  • Renal insufficiencyHP:0000083
  • Sudden cardiac deathHP:0001645
  • Tendon ruptureHP:0100550
  • Weight lossHP:0001824
  • Wrist dropHP:0031189

Excluded (0%)(1)

  • Reduced left ventricular ejection fractionHP:0012664