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Congenital factor XII deficiency

Disease definition

A rare, 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.

ORPHA:330

Classification level: Disorder
  • Synonym(s):
    • Congenital Hageman factor deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D68.2
  • OMIM: 234000
  • UMLS: C0015526
  • MeSH: -
  • GARD: 6558
  • MedDRA: -

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