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Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.
ORPHA:101041Classification level: Subtype of disorder
Prevalence is unknown but hypofibrinogenemia is more frequent than afibrinogenemia which has a prevalence of 1/1,000,000.
The deficiency is due to various mutations in the FGA, FGB, or FGG genes.
Transmission is mainly autosomal dominant.
- Guidance for genetic testing
- Français (2018, pdf)