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Thrombomodulin-related bleeding disorder

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Description

The role of thrombomodulin in thrombosis is controversial. Although there have been several reports of THBD mutations in patients with venous thrombosis, clear functional evidence for the pathogenicity of these mutations is lacking. In a review, Anastasiou et al. (2012) noted that thrombomodulin has a major role in capillary beds and that THBD variation may not be associated with large vessel thrombosis. It is likely that genetic or environmental risk factors in addition to THBD variation are involved in the pathogenesis of venous thrombosis. However, variation in the THBD gene may be associated with increased risk for arterial thrombosis and myocardial infarction. This association may be attributed to the fact that thrombomodulin can modulate inflammatory processes, complement activity, and fibrinolysis.

OMIM

  • Mode of Inheritance

    VARIANTS

    6

    SEE THE VARIANTS →

    Genes

    External Links

    • OMIM

      614486

    • Orphanet

      436169

    • HPO
    • Medgen

      C3280976

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