U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Familial dysfibrinogenemia

Summary

Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; 202400) or the quality (dysfibrinogenemia) of the circulating fibrinogen, or both (hypodysfibrinogenemia). Patients with dysfibrinogenemia are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both (summary by de Moerloose and Neerman-Arbez, 2009). Reports (e.g., Haverkate and Samama, 1995) on approximately 350 families with dysfibrinogenemia revealed that approximately half of cases are clinically silent, a quarter show a tendency toward bleeding, and another quarter show a predisposition for thrombosis with or without bleeding (summary by Lefebvre et al., 2004). [from OMIM]

Available tests

31 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: AMYLD2, Fib2, FGA
    Summary: fibrinogen alpha chain

  • Also known as: HEL-S-78p, FGB
    Summary: fibrinogen beta chain

  • Also known as: , FGG
    Summary: fibrinogen gamma chain

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.