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Congenital factor XII deficiency
rareCongenital 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.
- Identifiers
- MONDO:0009315 OMIM:234000Orphanet:330
- Causal genes
- F12
- Part of
- Autosomal genetic diseaseCoagulation protein diseaseCongenital hematological disorderHemorrhagic diseaseInherited blood coagulation disorder
- Also known as
- coagulation factor 12 deficiency · congenital Hageman factor deficiency · factor 12 deficiency · Factor XII Deficiency · Hageman Factor deficiency
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