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Familial dysfibrinogenemia

Disease definition

Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.

ORPHA:98881

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: 616004
  • UMLS: C5681639
  • MeSH: -
  • GARD: 2004
  • MedDRA: -

Summary

Epidemiology

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

Clinical description

Most patients with dysfibrinogenemia are asymptomatic. The others may have mild bleeding symptoms or even thrombosis.

Etiology

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

Genetic counseling

Transmission is mainly autosomal dominant.

- Last update: October 2009

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

Detailed information

Guidelines

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.