{"orpha":100051,"name":"Hereditary angioedema type 2","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HAE 2","HAE-II","Hereditary angioneurotic edema type 2"],"definition":"Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100051/","orphanet_url":"https://www.orpha.net/en/disease/detail/100051","names":{"fr":{"name":"Angio-oedème héréditaire type II","synonyms":["Angio-oedème bradykinique héréditaire de type II","HAE 2","HAE-II","Oedème angioneurotique héréditaire type II"],"definition":"L'angioedème héréditaire de type 2 est une forme d'angioedème héréditaire (AOH) caractérisée par un oedème aigu des tissus sous-cutanés et sous-muqueux des viscères et/ou des voies aériennes supérieures."},"de":{"name":"Angioödem, hereditäres, Typ 2","definition":"Das Hereditäre Angioödem Typ 2 (HAE 2), eine Form des Hereditären Angioödems (s. dort), ist gekennzeichnet durch akutes Ödem in subkutanen Geweben, inneren Organen und/oder oberen Atemwegen."},"es":{"name":"Angioedema hereditario tipo 2","synonyms":["AEH 2","AEH-II","Edema angioneurótico hereditario tipo 2"],"definition":"El angioedema hereditario tipo 2 (AEH 2) es una forma de angioedema hereditario (consulte este término) caracterizado por un edema agudo en los tejidos subcutáneos, las vísceras y/o la vía aérea superior."},"it":{"name":"Angioedema ereditario, tipo 2","synonyms":["Edema angioneurotico ereditario, tipo 2","HAE 2","HAE-II"],"definition":"L'angioedema ereditario tipo 2 (HAE 2) è una forma di angioedema ereditario (si veda questo termine) caratterizzata da edema acuto nei tessuti sottocutanei, nei visceri e/o nelle vie respiratorie superiori."},"nl":{"name":"Erfelijk angio-oedeem type 2","synonyms":["Erfelijk angioneurotisch oedeem type 2","HAE 2","HAE-II","Hereditair angio-oedeem type 2"],"definition":"Hereditair angio-oedeem type 2 (HAE 2) is een vorm van hereditair angio-oedeem (zie deze term) gekenmerkt door acuut oedeem in subcutane weefsels, inwendige organen en/of de bovenste luchtwegen."},"pt":{"name":"Angioedema hereditário tipo 2","synonyms":["Angioedema hereditário tipo II"]},"pl":{"name":"Dziedziczny obrzęk naczynioruchowy 2","synonyms":["Dziedziczny obrzęk angioneurotyczny typu 2","HAE 2","HAE-II"]},"cs":{"name":"Hereditární angioedém, typ 2","synonyms":["HAE 2","HAE-II","Hereditární angioneurotický edém, typ 2"]},"uk":{"name":"Спадковий ангіоневротичний набряк, тип 2","synonyms":["САН 2","САН-II","Спадковий ангіоневротичний набряк типу 2"],"definition":"Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway."},"zh":{"name":"遗传性血管性水肿2型","synonyms":["遗传性血管神经性水肿2型"],"definition":"遗传性血管性水肿2型(HAE-2)是一种遗传性血管性水肿(见该词条)，其特征是皮下组织、内脏和/或上呼吸道的急性水肿。"},"tr":{"name":"Kalıtsal anjiyoödem tip 2","synonyms":["HAE 2","HAE-II","Kalıtsal anjiyonörotik ödem tip 2"]}},"xrefs":[{"source":"OMIM","code":"106100","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.14","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2078615244"},{"source":"MONDO","code":"0015054","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398776","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":528623,"name":"Hereditary angioedema with C1Inh deficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"SERPING1","name":"serpin family G member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24456027[PMID]","hgnc":"1228","ensembl":"ENSG00000149131","omim":"606860","loci":["11q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}