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GATA2 deficiency spectrum

ORPHA:228423 · Disease · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(10)

  • Abnormal speech patternHP:0002167
  • Abnormal total neutrophil countHP:0011991
  • Acute leukemiaHP:0002488
  • Bone marrow hypocellularityHP:0005528
  • FatigueHP:0012378
  • LymphedemaHP:0001004
  • Prolonged bleeding timeHP:0003010
  • Respiratory failureHP:0002878
  • Sensorineural hearing impairmentHP:0000407
  • ThrombocytopeniaHP:0001873

Frequent (79-30%)(15)

  • Abnormal optic nerve morphologyHP:0000587
  • Bruising susceptibilityHP:0000978
  • Chronic otitis mediaHP:0000389
  • FeverHP:0001945
  • HepatomegalyHP:0002240
  • HypercoagulabilityHP:0100724
  • Intracranial hemorrhageHP:0002170
  • MigraineHP:0002076
  • Nausea and vomitingHP:0002017
  • PallorHP:0000980
  • Recurrent respiratory infectionsHP:0002205
  • SplenomegalyHP:0001744
  • VertigoHP:0002321
  • Visual lossHP:0000572
  • Weight lossHP:0001824

Occasional (29-5%)(3)

  • Increased total leukocyte countHP:0001974
  • LymphadenopathyHP:0002716
  • Myeloproliferative disorderHP:0005547