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Systemic mastocytosis with associated hematologic neoplasm

ORPHA:98849 · Disease · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(4)

  • Abnormal mast cell morphologyHP:0100494
  • Elevated total serum tryptaseHP:0031901
  • Hematological neoplasmHP:0004377
  • Myeloid leukemiaHP:0012324

Frequent (79-30%)(13)

  • Bone marrow hypercellularityHP:0031020
  • FatigueHP:0012378
  • FeverHP:0001945
  • HeadacheHP:0002315
  • Increased total eosinophil countHP:0001880
  • Increased total leukocyte countHP:0001974
  • Myeloproliferative disorderHP:0005547
  • Normochromic anemiaHP:0001895
  • Normocytic anemiaHP:0001897
  • PallorHP:0000980
  • PruritusHP:0000989
  • ThrombocytopeniaHP:0001873
  • Weight lossHP:0001824

Occasional (29-5%)(25)

  • Abdominal painHP:0002027
  • Abnormality of the respiratory systemHP:0002086
  • Acute myeloid leukemiaHP:0004808
  • ArthralgiaHP:0002829
  • Bone painHP:0002653
  • Chronic myelomonocytic leukemiaHP:0012325
  • DiarrheaHP:0002014
  • FlushingHP:0031284
  • Granulocytic hyperplasiaHP:0012138
  • HepatomegalyHP:0002240
  • HypotensionHP:0002615
  • Increased susceptibility to fracturesHP:0002659
  • Increased total basophil countHP:0031807
  • Increased total neutrophil countHP:0011897
  • LymphadenopathyHP:0002716
  • LymphomaHP:0002665
  • MyalgiaHP:0003326
  • MyelodysplasiaHP:0002863
  • NauseaHP:0002018
  • OsteoporosisHP:0000939
  • Peptic ulcerHP:0004398
  • SplenomegalyHP:0001744
  • SyncopeHP:0001279
  • TachycardiaHP:0001649
  • UrticariaHP:0001025

Very rare (<4-1%)(3)

  • Amyloid depositionHP:0011034
  • Chronic lymphatic leukemiaHP:0005550
  • Multiple myelomaHP:0006775