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Hereditary angioedema with C1Inh deficiency

ORPHA:528623 · Disease · Disorder

HPO 表現型（共 24 項）

Frequent (79-30%)(17)

  • Abdominal painHP:0002027
  • AngioedemaHP:0100665
  • Decreased circulating C1-esterase inhibitor concentrationHP:0034204
  • Decreased circulating complement C4 concentrationHP:0045042
  • DiarrheaHP:0002014
  • Erythema marginatumHP:6001012
  • Facial edemaHP:0000282
  • Genital edemaHP:0031188
  • Joint swellingHP:0001386
  • Laryngeal edemaHP:0012027
  • Muscular edemaHP:0100748
  • Nausea and vomitingHP:0002017
  • Non-pitting edemaHP:6000507
  • PainHP:0012531
  • Pharyngeal edemaHP:0011855
  • Serpiginous cutaneous lesionHP:0025527
  • Skin rashHP:0000988

Occasional (29-5%)(4)

  • AstheniaHP:0025406
  • FatigueHP:0012378
  • HeadacheHP:0002315
  • ParesthesiaHP:0003401

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

  • Episodic upper airway obstructionHP:0012271

Excluded (0%)(2)

  • PruritusHP:0000989
  • UrticariaHP:0001025