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- Hereditary_angioedema abstract "Hereditary angioedema (types I, II and III) (also known as "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. Swellings of the intestinal mucosa 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.HAE type I is primarily caused by a deficiency in blood proteins (C1 esterase inhibitors) which normally suppress activation of the complement system. The resultant over-stimulation of this system leads to the production of inflammatory anaphylatoxins, which affects the flow of body fluids between the vascular system and body tissues. This deficiency is responsible for approximately 80-85% of cases.HAE type II is a less frequently encountered form of this disorder and accounts for 15-20% of cases. In this type, atypical C1-inhibitor proteins are produced which are less capable of suppressing activation of the complement system. Like HAE type I, this results in over-stimulation of this system.HAE type III is rare and has only been documented recently. Unlike types I and II, this form does not appear to be connected with C1-inhibitor deficiency. This type mainly affects females and appears to be influenced by contact with estrogens and also by hormone replacement therapy (e.g. oral contraceptives). Its pathogenesis is credited to increased activity of the enzyme kininogenase, which leads to rise in the levels of bradykinin. Other patients with type III HAE have alterations in gene F12, which encodes a protein which participates in blood coagulation. Some patients with type III HAE have a mutation in the F12 gene which produces a protein involved in blood clotting.The underlying cause of HAE is attributed to autosomal dominant inheritance of mutations in the C1 inhibitor (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. 2-4 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 levels of certain complex proteins in the blood (C1 esterase inhibitors), known as complements. They help 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 abnormal complement proteins and accounts for about 15-20% of this disorder. 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 "19969".
- Hereditary_angioedema wikiPageOutDegree "31".
- Hereditary_angioedema wikiPageRevisionID "678912034".
- Hereditary_angioedema wikiPageWikiLink ACE_inhibitor.
- Hereditary_angioedema wikiPageWikiLink ACE_inhibitors.
- Hereditary_angioedema wikiPageWikiLink Anaphylatoxin.
- Hereditary_angioedema wikiPageWikiLink Anaphylatoxins.
- 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 Coagulation.
- Hereditary_angioedema wikiPageWikiLink Complement_system.
- Hereditary_angioedema wikiPageWikiLink Conestat_alfa.
- 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 Fools_for_Love_(House_episode).
- Hereditary_angioedema wikiPageWikiLink Fresh_frozen_plasma.
- Hereditary_angioedema wikiPageWikiLink Histamine_antagonist.
- Hereditary_angioedema wikiPageWikiLink House_(TV_series).
- Hereditary_angioedema wikiPageWikiLink House_(season_3).
- Hereditary_angioedema wikiPageWikiLink ILDS.
- Hereditary_angioedema wikiPageWikiLink Icatibant.
- Hereditary_angioedema wikiPageWikiLink Kallikrein.
- Hereditary_angioedema wikiPageWikiLink Larynx.
- Hereditary_angioedema wikiPageWikiLink The_International_League_of_Dermatological_Societies.
- Hereditary_angioedema wikiPageWikiLinkText "Hereditary angioedema".
- 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 hasPhotoCollection Hereditary_angioedema.
- 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 Article.
- Hereditary_angioedema type Disease.
- Hereditary_angioedema type Article.
- Hereditary_angioedema type Disorder.
- Hereditary_angioedema type Thing.
- Hereditary_angioedema type Q12136.
- Hereditary_angioedema comment "Hereditary angioedema (types I, II and III) (also known as "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. Swellings of the intestinal mucosa 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 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 sameAs Q2096745.
- Hereditary_angioedema wasDerivedFrom Hereditary_angioedema?oldid=678912034.
- Hereditary_angioedema depiction Swollen_hand_during_a_hereditary_angioedema_attack..jpg.
- Hereditary_angioedema isPrimaryTopicOf Hereditary_angioedema.
- Hereditary_angioedema name "Hereditary angioedema".