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Familial thrombocytosis

Disease definition

Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

ORPHA:71493

Classification level: Disorder
  • Synonym(s):
    • Familial thrombocythemia
    • Hereditary thrombocythemia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: D68.8
  • ICD-11: 3B63.0
  • OMIM: 187950  601977  614521
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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