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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hereditary angioedema


Other Names for this Disease
  • HAE
  • Hereditary angioneurotic edema
  • HANE
  • Deficiency of C1 esterase inhibitor
  • Hereditary angioedema type 1
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

Hereditary angioedema (HAE) is an immune disorder characterized by recurrent episodes of severe swelling. The most commonly affected areas of the body are the limbs, face, intestinal tract, and airway.[1] HAE is caused by low levels or improper function of a protein called C1 inhibitor which affects the blood vessels.[2] This condition is inherited in an autosomal dominant pattern.[1]

There are three types of HAE, types I, II, and III. The types can be distinguished by their underlying causes and levels of C1 inhibitor in the blood. Type I and II are caused by mutations in the SERPING1 gene. Some cases of type III are associated with mutations in the F12 gene. Other genes are likely to be identified as the cause of other cases of HAE type III.[1]
Last updated: 5/25/2011

References

  1. Hereditary angioedema. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/hereditary-angioedema. Accessed 1/24/2011.
  2. Dugdale DC, Henochowicz SI. Hereditary angioedema. MedlinePlus. 2010; http://www.nlm.nih.gov/medlineplus/ency/article/001456.htm. Accessed 1/24/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Hereditary angioedema. 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.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary angioedema. Click on the link to view a sample search on this topic.

Press Releases

  • The U.S. Food and Drug Administration (FDA) has recently approved Cinryze, Berinert and Kalbitor in the United States to protect people with hereditary angioedema (HAE). Click on the links above to read the FDA press releases related to these medications. 
Other Names for this Disease
  • HAE
  • Hereditary angioneurotic edema
  • HANE
  • Deficiency of C1 esterase inhibitor
  • Hereditary angioedema type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.