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MYH9-related syndromic thrombocytopenia

ORPHA:182050 · Disease · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(1)

  • Congenital thrombocytopeniaHP:0001905

Frequent (79-30%)(14)

  • Bruising susceptibilityHP:0000978
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Giant plateletsHP:0001902
  • Increased mean platelet volumeHP:0011877
  • MenorrhagiaHP:0000132
  • NephritisHP:0000123
  • NephropathyHP:0000112
  • Neutrophil inclusion bodiesHP:0008264
  • Presenile cataractsHP:0007819
  • Prolonged bleeding timeHP:0003010
  • ProteinuriaHP:0000093
  • Renal insufficiencyHP:0000083
  • Sensorineural hearing impairmentHP:0000407
  • Spontaneous, recurrent epistaxisHP:0004406

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

  • Myocardial infarctionHP:0001658