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Wiskott-Aldrich syndrome

ORPHA:906 · Disease · Disorder

HPO 表現型（共 57 項）

Very frequent (99-80%)(15)

  • Abnormal platelet morphologyHP:0011875
  • Bruising susceptibilityHP:0000978
  • Chronic diarrheaHP:0002028
  • Chronic otitis mediaHP:0000389
  • Chronic pulmonary obstructionHP:0006510
  • Decreased total lymphocyte countHP:0001888
  • FeverHP:0001945
  • ImmunodeficiencyHP:0002721
  • Internal hemorrhageHP:0011029
  • Otitis mediaHP:0000388
  • Prolonged bleeding timeHP:0003010
  • Recurrent respiratory infectionsHP:0002205
  • SinusitisHP:0000246
  • Spontaneous hematomasHP:0007420
  • ThrombocytopeniaHP:0001873

Frequent (79-30%)(14)

  • Abnormal eosinophil morphologyHP:0001879
  • AnemiaHP:0001903
  • ArrhythmiaHP:0011675
  • AutoimmunityHP:0002960
  • DyspneaHP:0002094
  • FatigueHP:0012378
  • HematemesisHP:0002248
  • HematocheziaHP:0002573
  • Hemolytic anemiaHP:0001878
  • Inflammation of the large intestineHP:0002037
  • Microcytic anemiaHP:0001935
  • PetechiaeHP:0000967
  • PurpuraHP:0000979
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(28)

  • Abnormal platelet functionHP:0011869
  • Abnormality of the menstrual cycleHP:0000140
  • Acute leukemiaHP:0002488
  • ArthritisHP:0001369
  • BlepharitisHP:0000498
  • Chest painHP:0100749
  • Chronic leukemiaHP:0005558
  • ConjunctivitisHP:0000509
  • Decreased total neutrophil countHP:0001875
  • Eczematoid dermatitisHP:0000964
  • EpistaxisHP:0000421
  • Gingival bleedingHP:0000225
  • GlomerulopathyHP:0100820
  • HyperostosisHP:0100774
  • Hypoplasia of the thymusHP:0000778
  • Intracranial hemorrhageHP:0002170
  • KeratitisHP:0000491
  • LymphomaHP:0002665
  • MeningitisHP:0001287
  • NeoplasmHP:0002664
  • NephropathyHP:0000112
  • Peripheral neuropathyHP:0009830
  • Recurrent intrapulmonary hemorrhageHP:0006535
  • SepsisHP:0100806
  • Skin ulcerHP:0200042
  • Sudden cardiac deathHP:0001645
  • UrticariaHP:0001025
  • VasculitisHP:0002633