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Aggressive systemic mastocytosis

ORPHA:98850 · Disease · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(1)

  • Abnormal mast cell morphologyHP:0100494

Frequent (79-30%)(21)

  • Abdominal crampsHP:0032155
  • Abdominal painHP:0002027
  • Anaphylactic shockHP:0100845
  • AnorexiaHP:0002039
  • ArthralgiaHP:0002829
  • Bone painHP:0002653
  • Constitutional symptomHP:0025142
  • DiarrheaHP:0002014
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • Elevated total serum tryptaseHP:0031901
  • FatigueHP:0012378
  • FlushingHP:0031284
  • HepatosplenomegalyHP:0001433
  • HypotensionHP:0002615
  • Increased CD25+ mast cell proportionHP:0031408
  • Increased total leukocyte countHP:0001974
  • LymphadenopathyHP:0002716
  • MalabsorptionHP:0002024
  • OsteoporosisHP:0000939
  • PruritusHP:0000989
  • Weight lossHP:0001824

Occasional (29-5%)(17)

  • Abnormal blistering of the skinHP:0008066
  • Abnormal skin morphologyHP:0011121
  • AnemiaHP:0001903
  • AscitesHP:0001541
  • Decreased liver functionHP:0001410
  • Decreased total neutrophil countHP:0001875
  • Gastrointestinal hemorrhageHP:0002239
  • Hematological neoplasmHP:0004377
  • HypersplenismHP:0001971
  • LeukemiaHP:0001909
  • Maculopapular exanthemaHP:0040186
  • OsteolysisHP:0002797
  • PancytopeniaHP:0001876
  • Pathologic fractureHP:0002756
  • Portal hypertensionHP:0001409
  • ThrombocytopeniaHP:0001873
  • UrticariaHP:0001025