Conditions / Genetic

factor XI deficiency

info · Genetic · ICD-10: D68.1

A hemophilia that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation fa

A hemophilia that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.

Signs and symptoms

  • Abnormal bleeding
  • Reduced factor XI activity
  • Prolonged partial thromboplastin time

Also known as: Congenital factor XI deficiency; Hereditary factor XI deficiency disease; Rosenthal's disease; hemophilia C; plasma thromboplastin antecedent deficiency