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Myasthenia gravis

ORPHA:589 · Disease · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(1)

  • Muscle weaknessHP:0001324

Frequent (79-30%)(24)

  • Abnormal thymus morphologyHP:0000777
  • Anti-DCC netrin 1 receptor antibody positivityHP:6000881
  • Anti-Kv1.4 antibodyHP:5000048
  • Anti-muscle-specific tyrosine kinase antibodyHP:0030210
  • Anti-neuromuscular Junction acetylcholine receptor antibody positivityHP:0030208
  • Anti-ryanodine receptor antibodyHP:5000047
  • Anti-titin antibody positivityHP:5000038
  • Bulbar palsyHP:0001283
  • Difficulty climbing stairsHP:0003551
  • DiplopiaHP:0000651
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • DysphoniaHP:0001618
  • DyspneaHP:0002094
  • Fatigable weakness of skeletal musclesHP:0030197
  • FatigueHP:0012378
  • Limb muscle weaknessHP:0003690
  • MyositisHP:0100614
  • OphthalmoparesisHP:0000597
  • PtosisHP:0000508
  • Single fiber EMG abnormalityHP:0030006
  • Skeletal muscle atrophyHP:0003202
  • Thymus hyperplasiaHP:0010516
  • Weakness of facial musculatureHP:0030319

Occasional (29-5%)(14)

  • Anti-Lrp4 antibody positivityHP:5000046
  • GlycosuriaHP:0003076
  • Hashimoto thyroiditisHP:0000872
  • Hearing impairmentHP:0000365
  • HyperacusisHP:0010780
  • HyperthyroidismHP:0000836
  • ParesthesiaHP:0003401
  • Primary adrenal insufficiencyHP:0008207
  • Raynaud phenomenonHP:0030880
  • Respiratory failureHP:0002878
  • Rheumatoid arthritisHP:0001370
  • Systemic lupus erythematosusHP:0002725
  • ThymomaHP:0100522
  • Tongue atrophyHP:0012473

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

  • AcrocyanosisHP:0001063
  • Hemolytic anemiaHP:0001878
  • HepatitisHP:0012115
  • PsychosisHP:0000709
  • Pure red cell aplasiaHP:0012410
  • SeizureHP:0001250