Hereditary antithrombin deficiency
Other Names for this Disease
- Congenital AT-III deficiency
- Antithrombin III Deficiency
- Congenital Antithrombin III Deficiency
- Thrombophilia due to antithrombin III deficiency
- Inherited antithrombin deficiency
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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.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
Last updated: 8/5/2015
- Hereditary antithrombin deficiency. Genetics Home Reference. February, 2013; http://ghr.nlm.nih.gov/condition/hereditary-antithrombin-deficiency. Accessed 8/5/2015.
- Bauer, Kenneth. Antithrombin Deficiency. National Organization for Rare Disorders (NORD). 2015; http://rarediseases.org/rare-diseases/antithrombin-deficiency/. Accessed 8/5/2015.
- Genetics Home Reference (GHR) contains information on Hereditary antithrombin deficiency. This website is maintained by the National Library of Medicine.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.