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Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.
ORPHA:98881Classification level: Subtype of disorder
Prevalence is unknown but dysfibrinogenemia is more frequent than afibrinogenemia which has a prevalence of 1/1,000,000.
Most patients with dysfibrinogenemia are asymptomatic. The others may have mild bleeding symptoms or even thrombosis.
The deficiency is due to various mutations in the FGA, FGB, or FGG genes.
Transmission is mainly autosomal dominant.