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Catastrophic antiphospholipid syndrome

ORPHA:464343 · Disease · Disorder

HPO 表現型（共 52 項）

Obligate (100%)(1)

  • Antiphospholipid antibody positivityHP:0003613

Very frequent (99-80%)(1)

  • Abnormal thrombosisHP:0001977

Frequent (79-30%)(11)

  • Abnormal circulating cytokine concentrationHP:0011112
  • Anti-beta 2 glycoprotein I antibody positivityHP:0032376
  • Anticardiolipin IgG antibody positivityHP:0020136
  • Arterial thrombosisHP:0004420
  • ArthralgiaHP:0002829
  • Coombs-positive hemolytic anemiaHP:0004844
  • Deep venous thrombosisHP:0002625
  • Microangiopathic hemolytic anemiaHP:0001937
  • Peripheral thrombosisHP:0002641
  • Spontaneous abortionHP:0005268
  • Venous thrombosisHP:0004936

Occasional (29-5%)(26)

  • Abnormal heart valve morphologyHP:0001654
  • Abnormal heart valve physiologyHP:0031653
  • Abnormality of the nervous systemHP:0000707
  • Amaurosis fugaxHP:0100576
  • Anti-annexin-V antibody positivityHP:0034101
  • Anti-phosphatidyl choline antibody positivityHP:0034097
  • Anti-phosphatidyl ethanolamine antibody positivityHP:0034084
  • Anti-phosphatidyl glycerol antibody positivityHP:0034098
  • Anti-phosphatidyl inositol antibody positivityHP:0034099
  • Anti-phosphatidyl serine antibody positivityHP:0034100
  • Anticardiolipin IgM antibody positivityHP:0020137
  • Arterial occlusionHP:0025324
  • ArthritisHP:0001369
  • Cutis marmorataHP:0000965
  • Lupus anticoagulantHP:0025343
  • MigraineHP:0002076
  • Myocardial infarctionHP:0001658
  • PreeclampsiaHP:0100602
  • Pulmonary embolismHP:0002204
  • SeizureHP:0001250
  • Skin ulcerHP:0200042
  • StrokeHP:0001297
  • Superficial thrombophlebitisHP:0002638
  • Systemic lupus erythematosusHP:0002725
  • ThrombocytopeniaHP:0001873
  • Transient ischemic attackHP:0002326

Very rare (<4-1%)(13)

  • Abnormal jugular vein morphologyHP:3000042
  • Abnormality of the kidneyHP:0000077
  • Acute encephalopathyHP:0006846
  • Angina pectorisHP:0001681
  • Avascular necrosisHP:0010885
  • ChoreaHP:0002072
  • DementiaHP:0000726
  • EclampsiaHP:0100601
  • GangreneHP:0100758
  • Gastrointestinal infarctionsHP:0005244
  • MyocarditisHP:0012819
  • Pulmonary arterial hypertensionHP:0002092
  • Retinal arterial occlusionHP:0025326