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GENATLAS PHENOTYPE
last update : 25-01-2016
Symbol THBDD
Location 20p11.2
Name thrombophilia due to thrombomodulin defect
Corresponding gene THBD
Other symbol(s) THRM
Main clinical features
  • susceptibility to myocardial infarction
  • rare cause of severe thrombophilia and venous thrombosis
  • risk for late fetal loss (odds ration 4:0)
  • Genetic determination
    Related entries PROC, including Hemolytic uremic syndrome, atypical, susceptibility (OMIM 612926)
    Function/system disorder hematology
    Type disease
    Gene product
    Name thrombomodulin (THBD), a glycoprotein receptor. THBD converts thrombin in a physiologic anticoagulant through protein C activation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     missence and frameshift
    other     dbSNP
    Remark(s)