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- Hereditary_angioedema abstract "Hereditary angioedema (HAE) is a rare, autosomal dominantly inherited blood disorder that causes episodic attacks of swelling that may affect the face, extremities, genitals, gastrointestinal tract and upper airways. In this form of angioedema, swellings of the intestinal mucous membrane may lead to vomiting and painful, colic-like intestinal spasms that may mimic intestinal obstruction. Airway edema may be life-threatening. Episodes may be triggered by trauma, surgery, dental work, menstruation, some medications, viral illness and stress; however, this is not always readily determined. This disorder affects approximately one in 10,000–50,000 people.The underlying cause of most HAE is autosomal dominant inheritance of mutations in the C1 inhibitor gene (C1-INH gene or SERPING1 gene), which is mapped to chromosome 11 (11q12-q13.1).To date there are over 300 known genetic mutations that result in a deficiency of functional C1 inhibitor protein. The majority of HAE patients have a family history; however, 25% are the result of new mutations. The low level of C1 inhibitor in the plasma leads to increased activation of pathways that release bradykinin, the chemical responsible for the angioedema due to increased vascular permeability, and the pain seen in individuals with HAE.The most common form of the disorder is HAE type I, which is the result of abnormally low amounts (low serum levels) of C1 inhibitors, which are responsible for maintaining proper balance (homeostasis) in the complement system (specifically, keeping the C1 part of the classical complement pathway from being overactive). This inhibition helps to regulate various body functions (e.g., flow of body fluids in and out of cells). HAE type II is a more uncommon form of the disorder. It occurs as the result of the production of C1 inhibitor that is normal in amount but does not work well (abnormal structure and function). Type II accounts for about 15-20% of HAE. Type III is a very rare, recently documented form: It predominantly affects females and it is influenced by exposure to estrogens or hormone replacement therapy (e.g. oral contraceptives and pregnancy) and is not associated with C1-INH deficiency. HAE type III is not due to C1 INH deficiency; it is linked to an increase in kininogenase activity leading to elevated levels of bradykinin. Some patients with type III HAE have a mutation in the F12 gene which produces a protein involved in blood clotting.".
- Hereditary_angioedema icd10 "D84.1(ILDSD84.110)".
- Hereditary_angioedema icd9 "277.6".
- Hereditary_angioedema meshId "D054179".
- Hereditary_angioedema omim "106100".
- Hereditary_angioedema thumbnail Swollen_hand_during_a_hereditary_angioedema_attack..jpg?width=300.
- Hereditary_angioedema wikiPageID "960783".
- Hereditary_angioedema wikiPageLength "20164".
- Hereditary_angioedema wikiPageOutDegree "42".
- Hereditary_angioedema wikiPageRevisionID "705460694".
- Hereditary_angioedema wikiPageWikiLink ACE_inhibitor.
- Hereditary_angioedema wikiPageWikiLink Anaphylatoxin.
- Hereditary_angioedema wikiPageWikiLink Angioedema.
- Hereditary_angioedema wikiPageWikiLink Antihistamine.
- Hereditary_angioedema wikiPageWikiLink Bradykinin.
- Hereditary_angioedema wikiPageWikiLink Bradykinin_receptor.
- Hereditary_angioedema wikiPageWikiLink C1-inhibitor.
- Hereditary_angioedema wikiPageWikiLink Category:Complement_deficiency.
- Hereditary_angioedema wikiPageWikiLink Category:Serpinopathies.
- Hereditary_angioedema wikiPageWikiLink Category:Urticaria_and_angioedema.
- Hereditary_angioedema wikiPageWikiLink Classical_complement_pathway.
- Hereditary_angioedema wikiPageWikiLink Coagulation.
- Hereditary_angioedema wikiPageWikiLink Colic.
- Hereditary_angioedema wikiPageWikiLink Complement_system.
- Hereditary_angioedema wikiPageWikiLink Corticosteroid.
- Hereditary_angioedema wikiPageWikiLink Dominance_(genetics).
- Hereditary_angioedema wikiPageWikiLink Ecallantide.
- Hereditary_angioedema wikiPageWikiLink Edema.
- Hereditary_angioedema wikiPageWikiLink Epidemiology.
- Hereditary_angioedema wikiPageWikiLink Epinephrine.
- Hereditary_angioedema wikiPageWikiLink European_Medicines_Agency.
- Hereditary_angioedema wikiPageWikiLink Food_and_Drug_Administration.
- Hereditary_angioedema wikiPageWikiLink Fresh_frozen_plasma.
- Hereditary_angioedema wikiPageWikiLink House_(TV_series).
- Hereditary_angioedema wikiPageWikiLink House_(season_3).
- Hereditary_angioedema wikiPageWikiLink Human_homeostasis.
- Hereditary_angioedema wikiPageWikiLink Icatibant.
- Hereditary_angioedema wikiPageWikiLink Kallikrein.
- Hereditary_angioedema wikiPageWikiLink Larynx.
- Hereditary_angioedema wikiPageWikiLink Mucous_membrane.
- Hereditary_angioedema wikiPageWikiLink Protein.
- Hereditary_angioedema wikiPageWikiLink Respiratory_tract.
- Hereditary_angioedema wikiPageWikiLink Serum_(blood).
- Hereditary_angioedema wikiPageWikiLink Spasm.
- Hereditary_angioedema wikiPageWikiLink The_International_League_of_Dermatological_Societies.
- Hereditary_angioedema wikiPageWikiLinkText "Hereditary angioedema".
- Hereditary_angioedema wikiPageWikiLinkText "hereditary angeoedema".
- Hereditary_angioedema wikiPageWikiLinkText "hereditary angioedema".
- Hereditary_angioedema caption "Swollen right hand during a hereditary angioedema attack.".
- Hereditary_angioedema diseasesdb "1821".
- Hereditary_angioedema emedicinesubj "article".
- Hereditary_angioedema emedicinetopic "1048994".
- Hereditary_angioedema icd "277.6".
- Hereditary_angioedema icd "D84.1".
- Hereditary_angioedema medlineplus "1456".
- Hereditary_angioedema meshid "D054179".
- Hereditary_angioedema name "Hereditary angioedema".
- Hereditary_angioedema omim "106100".
- Hereditary_angioedema wikiPageUsesTemplate Template:Complement_test_comparisons.
- Hereditary_angioedema wikiPageUsesTemplate Template:Disorders_of_globin_and_globulin_proteins.
- Hereditary_angioedema wikiPageUsesTemplate Template:Dmoz.
- Hereditary_angioedema wikiPageUsesTemplate Template:Infobox_disease.
- Hereditary_angioedema wikiPageUsesTemplate Template:Lymphoid_and_complement_immunodeficiency.
- Hereditary_angioedema wikiPageUsesTemplate Template:Reflist.
- Hereditary_angioedema wikiPageUsesTemplate Template:Rp.
- Hereditary_angioedema subject Category:Complement_deficiency.
- Hereditary_angioedema subject Category:Serpinopathies.
- Hereditary_angioedema subject Category:Urticaria_and_angioedema.
- Hereditary_angioedema hypernym Autosomal.
- Hereditary_angioedema type Disease.
- Hereditary_angioedema type Disorder.
- Hereditary_angioedema type Redirect.
- Hereditary_angioedema type Thing.
- Hereditary_angioedema type Q12136.
- Hereditary_angioedema comment "Hereditary angioedema (HAE) is a rare, autosomal dominantly inherited blood disorder that causes episodic attacks of swelling that may affect the face, extremities, genitals, gastrointestinal tract and upper airways. In this form of angioedema, swellings of the intestinal mucous membrane may lead to vomiting and painful, colic-like intestinal spasms that may mimic intestinal obstruction. Airway edema may be life-threatening.".
- Hereditary_angioedema label "Hereditary angioedema".
- Hereditary_angioedema sameAs Q2096745.
- Hereditary_angioedema sameAs Hereditært_angioødem.
- Hereditary_angioedema sameAs Hereditäres_Angioödem.
- Hereditary_angioedema sameAs Angioedema_hereditario.
- Hereditary_angioedema sameAs Hereditaarinen_angioödeema.
- Hereditary_angioedema sameAs Angio-œdème_héréditaire.
- Hereditary_angioedema sameAs אנגיואדמה_תורשתית.
- Hereditary_angioedema sameAs Angioedema_ereditario.
- Hereditary_angioedema sameAs Hereditair_angio-oedeem.
- Hereditary_angioedema sameAs Hereditært_angioødem.
- Hereditary_angioedema sameAs Angioedema_hereditário.
- Hereditary_angioedema sameAs m.05m_yr6.
- Hereditary_angioedema sameAs Наследственный_ангионевротический_отёк.
- Hereditary_angioedema sameAs Q2096745.
- Hereditary_angioedema wasDerivedFrom Hereditary_angioedema?oldid=705460694.
- Hereditary_angioedema depiction Swollen_hand_during_a_hereditary_angioedema_attack..jpg.
- Hereditary_angioedema isPrimaryTopicOf Hereditary_angioedema.
- Hereditary_angioedema name "Hereditary angioedema".