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Hereditary thrombocytopenia with normal platelets

Disease definition

A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.

ORPHA:268322

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: All ages
  • ICD-10: D69.4
  • OMIM: 188000  273900  313900  612004
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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