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Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome

Disease definition

Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular AML.

ORPHA:71290

  • Synonym(s):
    • FPD/AML syndrome
    • FPS/AML syndrome
    • Familial platelet disorder with associated myeloid malignancy
    • Familial platelet syndrome with predisposition to acute myelogenous leukemia
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: D69.4
  • OMIM: 601399  616216
  • UMLS: C1832388
  • MeSH: -
  • GARD: 10352
  • MedDRA: -

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