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Alport syndrome

ORPHA:63 · Disease · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(2)

  • Glomerular basement membrane lamellationHP:0030034
  • HematuriaHP:0000790

Frequent (79-30%)(9)

  • Bilateral sensorineural hearing impairmentHP:0008619
  • HypertensionHP:0000822
  • Mesangial hypercellularityHP:0012574
  • ProteinuriaHP:0000093
  • Reduced visual acuityHP:0007663
  • Renal insufficiencyHP:0000083
  • Retinal flecksHP:0012045
  • Stage 5 chronic kidney diseaseHP:0003774
  • Thin glomerular basement membraneHP:0012577

Occasional (29-5%)(12)

  • Abnormal corneal endothelium morphologyHP:0011488
  • Anterior lenticonusHP:0011501
  • Corneal erosionHP:0200020
  • EdemaHP:0000969
  • Focal segmental glomerulosclerosisHP:0000097
  • Microscopic hematuriaHP:0002907
  • MyopiaHP:0000545
  • Recurrent corneal erosionsHP:0000495
  • Renal glomerular foam cellsHP:0032583
  • Thickened glomerular basement membraneHP:0004722
  • Thickening of glomerular capillary wallHP:0025005
  • Tubulointerstitial fibrosisHP:0005576

Very rare (<4-1%)(11)

  • Corneal dystrophyHP:0001131
  • CoughHP:0012735
  • Diffuse leiomyomatosisHP:0006756
  • DysphagiaHP:0002015
  • DyspneaHP:0002094
  • Epigastric painHP:0410019
  • Macular degenerationHP:0000608
  • Posterior subcapsular cataractHP:0007787
  • Recurrent bronchitisHP:0002837
  • StridorHP:0010307
  • VomitingHP:0002013