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X-linked Alport syndrome-diffuse leiomyomatosis

ORPHA:1018 · Clinical subtype · Subtype of disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(4)

  • Abnormal esophagus morphologyHP:0002031
  • Abnormal gastrointestinal tract morphologyHP:0012718
  • DysphagiaHP:0002015
  • Esophageal neoplasmHP:0100751

Frequent (79-30%)(17)

  • Abnormality of the eyeHP:0000478
  • Abnormality of the female genitaliaHP:0010460
  • AchalasiaHP:0002571
  • Anti-smooth muscle antibody positivityHP:0003262
  • CataractHP:0000518
  • Chest painHP:0100749
  • Chronic kidney diseaseHP:0012622
  • Diffuse leiomyomatosisHP:0006756
  • DyspepsiaHP:0410281
  • Failure to thriveHP:0001508
  • Gastroesophageal refluxHP:0002020
  • HematuriaHP:0000790
  • HypoperistalsisHP:0100771
  • NephropathyHP:0000112
  • ProteinuriaHP:0000093
  • Sensorineural hearing impairmentHP:0000407
  • VomitingHP:0002013

Occasional (29-5%)(18)

  • Abnormal respiratory system morphologyHP:0012252
  • Anterior lenticonusHP:0011501
  • Aspiration pneumoniaHP:0011951
  • CoughHP:0012735
  • DyspneaHP:0002094
  • Esophageal stenosisHP:0010450
  • FibromaHP:0010614
  • KeratitisHP:0000491
  • MyopiaHP:0000545
  • Nasogastric tube feedingHP:0040288
  • Precordial painHP:0032141
  • Recurrent respiratory infectionsHP:0002205
  • Stage 5 chronic kidney diseaseHP:0003774
  • Tracheobronchial leiomyomatosisHP:0006524
  • Uterine neoplasmHP:0010784
  • Vaginal neoplasmHP:0100650
  • Vulvar neoplasmHP:0030416
  • Weight lossHP:0001824