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Dermatomyositis

ORPHA:221 · Disease · Disorder

HPO 表現型（共 76 項）

Very frequent (99-80%)(8)

  • AutoimmunityHP:0002960
  • EdemaHP:0000969
  • ErythemaHP:0010783
  • Inflammatory myopathyHP:0009071
  • Limb-girdle muscle weaknessHP:0003325
  • MyalgiaHP:0003326
  • Periorbital edemaHP:0100539
  • Proximal muscle weaknessHP:0003701

Frequent (79-30%)(28)

  • Abnormal pulmonary interstitial morphologyHP:0006530
  • AcrocyanosisHP:0001063
  • Anti-SUMO-activating enzyme subunit 1 antibody positivityHP:0034140
  • Anti-SUMO-activating enzyme subunit 2 antibody positivityHP:0034141
  • ArthralgiaHP:0002829
  • ArthritisHP:0001369
  • Diffuse reticular or finely nodular infiltrationsHP:0002207
  • Elevated circulating aldolase concentrationHP:0012544
  • Elevated circulating creatine kinase activityHP:0003236
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • EMG: myopathic abnormalitiesHP:0003458
  • Facial erythemaHP:0001041
  • FatigueHP:0012378
  • Gottron's papulesHP:0025508
  • Heliotrope rashHP:0040324
  • HypotoniaHP:0001252
  • Increased circulating lactate dehydrogenase concentrationHP:0025435
  • MyositisHP:0100614
  • PapuleHP:0200034
  • Periungual erythemaHP:0033425
  • PruritusHP:0000989
  • Pulmonary fibrosisHP:0002206
  • Respiratory insufficiencyHP:0002093
  • Respiratory insufficiency due to muscle weaknessHP:0002747
  • Shawl signHP:0025535
  • Skin rashHP:0000988
  • Skin ulcerHP:0200042
  • Weight lossHP:0001824

Occasional (29-5%)(30)

  • AlopeciaHP:0001596
  • Anti-histidyl tRNA synthetase antibody positivityHP:0034152
  • Anti-MDA5 antibody positivityHP:0033033
  • Anti-Mi2 antibody positivityHP:0033554
  • Anti-nuclear matrix protein-2 antibody positivityHP:0034142
  • Anti-SUMO-activating enzyme antibody positivityHP:0034139
  • Anti-transcription intermediary factor-1gamma antibody positivityHP:0034105
  • ArrhythmiaHP:0011675
  • Calcinosis cutisHP:0025520
  • Cutaneous photosensitivityHP:0000992
  • DysphagiaHP:0002015
  • DysphoniaHP:0001618
  • EMG abnormalityHP:0003457
  • Facial edemaHP:0000282
  • FeverHP:0001945
  • GangreneHP:0100758
  • Gottron signHP:0430033
  • Holster signHP:6000006
  • Mechanic's handsHP:6001013
  • Myocardial infarctionHP:0001658
  • MyocarditisHP:0012819
  • PericarditisHP:0001701
  • Periungual teleangiectasiaHP:0025555
  • PoikilodermaHP:0001029
  • Pulmonary arterial hypertensionHP:0002092
  • Raynaud phenomenonHP:0030880
  • Sinus tachycardiaHP:0011703
  • Telangiectasia of the skinHP:0100585
  • V-signHP:0025536
  • VasculitisHP:0002633

Very rare (<4-1%)(10)

  • Breast carcinomaHP:0003002
  • Gastrointestinal stroma tumorHP:0100723
  • Lung adenocarcinomaHP:0030078
  • LymphomaHP:0002665
  • Neoplasia of the nasopharynxHP:0100630
  • NeoplasmHP:0002664
  • Neoplasm of the lungHP:0100526
  • Ovarian neoplasmHP:0100615
  • Palmar hyperkeratosisHP:0010765
  • PanniculitisHP:0012490