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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hereditary antithrombin deficiency


Other Names for this Disease
  • Antithrombin III Deficiency
  • Congenital Antithrombin III Deficiency
  • Congenital AT-III deficiency
  • Hereditary thrombophilia due to congenital antithrombin 3 deficiency
  • Hereditary thrombophilia due to congenital antithrombin deficiency
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Overview

Hereditary antithrombin deficiency, also known as antithrombin III deficiency or AT III deficiency, is a disorder in which individuals are at increased risk for developing blood clots. The type of blood clots seen in individuals with this condition are typically clots that form in the deep veins of the leg (deep vein thrombosis or DVT) and clots that lodge in the lungs (pulmonary embolism or PE). Approximately 50% of individuals with hereditary antithrombin deficiency will develop one or more clots in their lifetime, usually after adolescence. Factors that may increase the likelihood of clotting include pregnancy, the use of oral contraceptives, surgery, increasing age, and a lack of movement. Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene and is typically inherited in an autosomal dominant manner.[1][2]
Last updated: 8/5/2015

References

  1. Hereditary antithrombin deficiency. Genetics Home Reference. February, 2013; http://ghr.nlm.nih.gov/condition/hereditary-antithrombin-deficiency. Accessed 8/5/2015.
  2. Bauer, Kenneth. Antithrombin Deficiency. National Organization for Rare Disorders (NORD). 2015; http://rarediseases.org/rare-diseases/antithrombin-deficiency/. Accessed 8/5/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Hereditary antithrombin deficiency. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In Depth Information

  • Medscape Reference provides information on this topic. 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. 
  • 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
  • Antithrombin III Deficiency
  • Congenital Antithrombin III Deficiency
  • Congenital AT-III deficiency
  • Hereditary thrombophilia due to congenital antithrombin 3 deficiency
  • Hereditary thrombophilia due to congenital antithrombin 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.