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Wild type ABeta2M amyloidosis

ORPHA:85446 · Disease · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(3)

  • ArthritisHP:0001369
  • Neck painHP:0030833
  • Shoulder painHP:0030834

Frequent (79-30%)(9)

  • Abnormality of the thenar eminenceHP:0001227
  • Axonal lossHP:0003447
  • Bone cystHP:0012062
  • Constrictive median neuropathyHP:0012185
  • Decreased amplitude of sensory action potentialsHP:0007078
  • Decreased nerve conduction velocityHP:0000762
  • DysesthesiaHP:0012534
  • PainHP:0012531
  • ParesthesiaHP:0003401

Occasional (29-5%)(7)

  • Abnormal intervertebral disk morphologyHP:0005108
  • Abnormal intestine morphologyHP:0002242
  • Abnormality of the vertebral endplatesHP:0005106
  • ArthropathyHP:0003040
  • DysphagiaHP:0002015
  • Gastrointestinal hemorrhageHP:0002239
  • MacroglossiaHP:0000158

Very rare (<4-1%)(8)

  • Abnormal shoulder morphologyHP:0003043
  • Abnormal tendon morphologyHP:0100261
  • ArrhythmiaHP:0011675
  • Cardiac amyloidosisHP:0030843
  • Congestive heart failureHP:0001635
  • Intestinal pseudo-obstructionHP:0004389
  • TetraparesisHP:0002273
  • TetraplegiaHP:0002445