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Familial hypofibrinogenemia

Orpha number ORPHA101041
Synonym(s) -
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Variable
ICD-10
  • D68.2
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration. 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.

Expert reviewer(s)

  • Pr Jenny GOUDEMAND

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