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AGel amyloidosis

ORPHA:85448 · Disease · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(6)

  • Abnormality of the eyeHP:0000478
  • Bilateral ptosisHP:0001488
  • Dermatological manifestations of systemic disordersHP:0001005
  • Dry skinHP:0000958
  • Keratoconjunctivitis siccaHP:0001097
  • Lattice corneal dystrophyHP:0001149

Frequent (79-30%)(19)

  • Abnormality of the nervous systemHP:0000707
  • ArrhythmiaHP:0011675
  • AtaxiaHP:0001251
  • Bruising susceptibilityHP:0000978
  • CataractHP:0000518
  • Constrictive median neuropathyHP:0012185
  • Corneal ulcerationHP:0012804
  • Cutis laxaHP:0000973
  • Distal peripheral sensory neuropathyHP:0007067
  • DysphagiaHP:0002015
  • EdemaHP:0000969
  • Facial palsyHP:0010628
  • Hearing impairmentHP:0000365
  • MyokymiaHP:0002411
  • PolyneuropathyHP:0001271
  • Reduced visual acuityHP:0007663
  • Regional abnormality of skinHP:0011356
  • Visual impairmentHP:0000505
  • XerostomiaHP:0000217

Occasional (29-5%)(14)

  • Abnormal spleen morphologyHP:0025408
  • BlepharochalasisHP:0010749
  • CardiomyopathyHP:0001638
  • Diffuse skin atrophyHP:0007488
  • DysarthriaHP:0001260
  • GlaucomaHP:0000501
  • OphthalmoparesisHP:0000597
  • Orthostatic hypotension due to autonomic dysfunctionHP:0004926
  • ProteinuriaHP:0000093
  • PruritusHP:0000989
  • Sensory neuropathyHP:0000763
  • Sleep apneaHP:0010535
  • Sparse hairHP:0008070
  • Tongue atrophyHP:0012473

Very rare (<4-1%)(6)

  • Bulbar signsHP:0002483
  • Deficit in phonologic short-term memoryHP:0002549
  • DepressionHP:0000716
  • Nail dystrophyHP:0008404
  • Respiratory tract infectionHP:0011947
  • Stage 5 chronic kidney diseaseHP:0003774