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Genetic and Rare Diseases Information Center (GARD)

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Factor XIII deficiency


Other Names for this Disease

  • Congenital Factor XIII deficiency
  • Fibrin stabilizing factor deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain.[1] FXIII deficiency is usually caused by mutations in the F13A1 gene, but mutations have also been found in the F13B gene. It is usually inherited in an autosomal recessive fashion. Acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia.[2]
Last updated: 8/16/2011

References

  1. Factor XIII Deficiency. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/66/viewAbstract. Accessed 8/16/2011.
  2. Congenital factor XIII deficiency. Orphanet. October 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=331. Accessed 8/16/2011.
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Basic Information

General Information

  • eMedicine has 2 articles on this topic from the perspective of adults and pediatrics. You may need to register to view the information online, but registration is free. Click on the links above to view the articles from this medical reference Web site.

In Depth Information

  • eMedicine has 2 articles on this topic from the perspective of adults and pediatrics. You may need to register to view the information online, but registration is free. Click on the links above to view the articles from this medical reference Web site.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Factor XIIIA deficiency
    Factor XIIIB deficiency
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
Other Names for this Disease
  • Congenital Factor XIII deficiency
  • Fibrin stabilizing factor deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.