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Familial hypofibrinogenemia

Disease definition

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

ORPHA:101041

Classification level: Subtype of disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: D68.2
  • ICD-11: 3B14.0
  • OMIM: 202400
  • UMLS: C5681803
  • MeSH: -
  • GARD: 2887
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown but hypofibrinogenemia is more frequent than afibrinogenemia which has a prevalence of 1/1,000,000.

Etiology

The deficiency is due to various mutations in the FGA, FGB, or FGG genes.

Genetic counseling

Transmission is mainly autosomal dominant.

Expert reviewer(s):  Pr Jenny GOUDEMAND - Last update: October 2009

  A summary on this disease is available in Español (2009) Français (2009) Nederlands (2009)

Detailed information

Guidelines

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.