Orphanet: Bleeding diathesis due to thromboxane synthesis deficiency
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Bleeding diathesis due to thromboxane synthesis deficiency

Disease definition

Bleeding diathesis due to thromboxane synthesis deficiency is a rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).

ORPHA:220443

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: D69.8
  • OMIM: 614009
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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