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Tumor necrosis factor receptor 1 associated periodic syndrome

ORPHA:32960 · Disease · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(10)

  • Abdominal painHP:0002027
  • DiarrheaHP:0002014
  • Elevated circulating C-reactive protein concentrationHP:0011227
  • Elevated erythrocyte sedimentation rateHP:0003565
  • ErysipelasHP:0001055
  • MaculeHP:0012733
  • MyalgiaHP:0003326
  • PericarditisHP:0001701
  • Recurrent feverHP:0001954
  • Skin rashHP:0000988

Frequent (79-30%)(10)

  • ArthritisHP:0001369
  • ConstipationHP:0002019
  • ErythemaHP:0010783
  • Increased total leukocyte countHP:0001974
  • Intestinal obstructionHP:0005214
  • LymphadenopathyHP:0002716
  • OrchitisHP:0100796
  • PleuritisHP:0002102
  • SplenomegalyHP:0001744
  • VomitingHP:0002013

Occasional (29-5%)(20)

  • Abnormal myocardium morphologyHP:0001637
  • Abnormal sacroiliac joint morphologyHP:0100781
  • ArthralgiaHP:0002829
  • Atypical behaviorHP:0000708
  • Bruising susceptibilityHP:0000978
  • CellulitisHP:0100658
  • Chest painHP:0100749
  • ConjunctivitisHP:0000509
  • Cranial nerve paralysisHP:0006824
  • FasciitisHP:0100537
  • Hypermelanotic maculeHP:0001034
  • MigraineHP:0002076
  • MyositisHP:0100614
  • ParesthesiaHP:0003401
  • Periorbital edemaHP:0100539
  • PeritonitisHP:0002586
  • Recurrent pharyngitisHP:0100776
  • UveitisHP:0000554
  • VasculitisHP:0002633
  • VertigoHP:0002321