Congenital factor XII deficiency

Orpha code: 330OMIM code: 234000

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.

Disease data
Classification

Disease

Synonyms
Congenital Hageman factor deficiency
Wrodzony Niedobór czynnika Hagemana
ORPHA code
330
OMIM code
234000
ICD10 code
D68.2
ICD11 code
3B15

No additional description.

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