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Familial platelet disorder with associated myeloid malignancy

Disease definition

A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.

ORPHA:71290

Classification level: Disorder
  • Synonym(s):
    • FPD/AML
    • FPDMM
    • FPS/AML
    • Familial platelet disorder with predisposition to acute myelogenous leukemia
    • Familial platelet disorder with predisposition to myeloid malignancy
    • Familial platelet disorder with propensity to acute myeloid leukemia
    • Familial thrombocytopenia with propensity 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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