EC Number   |
General Information |
Reference  |
|---|
   3.4.21.27 | malfunction |
activated partial thromboplastin time is abnormal in all cases with severe or moderate FXI deficiency. FXI deficiency is not an absolute contraindication to neuraxial anesthesia |
707134 |
| 3.4.21.27 | malfunction |
FXI deficiency is a rare inherited coagulation disorder characterized by infrequent spontaneous bleeding, but increased risk of hemorrhagic complications especially after trauma or surgery |
707148 |
| 3.4.21.27 | malfunction |
a deficiency in FXI (hemophilia C) results in a more benign bleeding phenotype compared with a deficiency in either FVIII (hemophilia A) or FIX (hemophilia B). Most hemophilia C cases involve Ashkenazi Jews and result from either of 2 mutations in the FXI gene (E117X and F283L). Greater than 180 mutations are present but in lesser frequency. FXI deficiency also arises from acquired inhibitors that neutralize its activity, these patients may not respond well to FXI replacement therapy. Bleeding in those with hemophilia C is rarely spontaneous, it tends to occur in response to surgery or trauma, and especially in tissue prone to fibrinolysis (the urinary track or oral cavity). Prolonged activated partial thromboplastin time due to FXI deficiency |
707308 |
| 3.4.21.27 | malfunction |
FXI-null mice are healthy, and their reproduction follows the expected mendelian ratios without impaired fecundity. FXI-null mice are protected against oxidative iron chloride-induced carotid artery thrombosis and infusion of human FXI reverses this protection. Thrombus formation in FXI-null mice is also reduced in response to laser injury of arterioles in the cremaster muscle. FXI deletion is also effective in preserving carotid artery blood flow in response to compression injury |
707308 |
| 3.4.21.27 | physiological function |
FXI is a biomarker with increased levels reported as a risk factor for venous thromboembolism and myocardial ischemia or stroke |
707308 |
| 3.4.21.27 | physiological function |
involvment of FXI in thrombosis, role for activated factor FXI in tissue infammation |
707308 |
| 3.4.21.27 | malfunction |
congenital FXI deficiency is associated with a variable, mild to moderate bleeding disorder. Severe deficiency is prevalent in people of Jewish ancestry. The severe mutation Glu117Stop encodes a truncated protein, and homozygotes lack plasma FXI antigen. The more subtle missense mutation Phe283Leu causes a defect in FXI dimer formation. Most cases of FXI deficiency are associated with low plasma levels of FXI protein. Deficiency or inhibition of FXI interferes with platelet accumulation in growing thrombi. A4 domain mutations associated with FXI deficiency interfere with dimerization. FXI-deficient plasma exhibits a prolonged activated partial thromboplastin clotting time |
707856 |
| 3.4.21.27 | malfunction |
mice lacking FIX, FXI, or FXII on a background of low tissue factor expression have a severe bleeding disorder but are viable. Superimposing FIX or FXI deficiency on the low tissue factor background results in death in utero from bleeding |
707856 |
| 3.4.21.27 | physiological function |
FXI is the zymogen of a blood coagulation protease, factor XIa (activated factor IX), that contributes to hemostasis through activation of factor IX. Almost all FXI circulate in a complex with kininogen |
707856 |
| 3.4.21.27 | physiological function |
FXI is the zymogen of a plasma protease that contributes to fibrin formation and stability by activating factor IX. Circulates in plasma in complex with high molecular weight kininogen |
709721 |
