/congenital factor XII deficiency

congenital factor XII deficiency

Rare Disease

MONDO:0009315

Also Known As

Factor XII DeficiencyHageman Factor deficiencycongenital Hageman factor deficiencycongenital factor XII deficiencydeficiency, Hagemanfactor XII deficiency diseaseF12 deficiencyHaf deficiencycoagulation factor 12 deficiencyfactor 12 deficiencyfactor XII deficiency

Definition

Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.