{"orpha":91378,"name":"Hereditary angioedema","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Familial angioneurotic edema","HAE","Hereditary angioneurotic edema","Hereditary bradykinine-induced angioedema","Hereditary non histamine-induced angioedema"],"definition":"Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91378/","orphanet_url":"https://www.orpha.net/en/disease/detail/91378","names":{"fr":{"name":"Angio-oedème héréditaire","synonyms":["Angio-oedème bradykinique héréditaire","Angio-oedème non histaminique héréditaire","OANH","Oedème angioneurotique familial","Oedème angioneurotique héréditaire"],"definition":"L'angioedème héréditaire (AOH) est une maladie génétique caractérisée par la survenue d'oedèmes sous-cutanés et/ou sous-muqueux transitoires et récidivants responsables d'un gonflement localisé et/ou de douleur abdominale."},"de":{"name":"Angioödem, hereditäres","synonyms":["Angioneurotisches Ödem, familiäres","Angioneurotisches Ödem, hereditäres","Angioödem, hereditäres, Bradykinin-induziertes","Angioödem, hereditäres, nicht-Histamin-induziertes","HAE"],"definition":"Das Hereditäre Angioödem (HAE) ist ist eine genetische Erkrankung und gekennzeichnet durch vorübergehende und rezidivierende subkutane und/oder submuköse Ödeme mit Schwellungen und Leibschmerzen."},"es":{"name":"Angioedema hereditario","synonyms":["AEH","Angioedema hereditario inducido por bradiquinina","Angioedema hereditario no inducido por histamina","Edema angioneurótico familar","Edema angioneurótico hereditario"],"definition":"El angioedema hereditario (AEH) es una enfermedad genética caracterizada por la ocurrencia de edemas submucosos y/o subcutáneos transitorios y recurrentes resultando en dolor y/o inflamación abdominal."},"it":{"name":"Angioedema ereditario","synonyms":["Edema angioneurotico ereditario","Edema angioneurotico, forma familiare","HAE"],"definition":"L'angioedema ereditario (HAE) è una malattia genetica caratterizzata dalla comparsa di edemi sottomucosi e/o sottocutanei ricorrenti e transitori, che sono responsabili di gonfiori e/o dolori addominali."},"nl":{"name":"Erfelijk angio-oedeem","synonyms":["Erfelijk angioneurotisch oedeem","Erfelijk bradykinine-geïnduceerd angio-oedeem","Erfelijk niet-histamine-geïnduceerd angio-oedeem","Familiaal angioneurotisch oedeem","HAE"],"definition":"Hereditair angio-oedeem (HAE) is een genetische ziekte die wordt gekenmerkt door de aanwezigheid van tijdelijke en terugkerende subcutane en/of submucosale oedemen, dat leidt tot zwelling en/of abdominale pijn."},"pt":{"name":"Angioedema hereditário","definition":"O angioedema hereditário (AEH) é uma doença genética caracterizada pela ocorrência de edemas subcutâneos e/ou submucosos transitórios e recorrentes, resultando em edema e/ou dor abdominal."},"pl":{"name":"Dziedziczny obrzęk naczynioruchowy","synonyms":["Dzidziczny obrzęk naczynioruchowy indukowany bradykininą","Dziedziczny niehistaminowy obrzęk naczynioruchowy","Dziedziczny obrzęk angioneurotyczny","HAE","Rodzinny obrzęk angioneurotyczny"]},"cs":{"name":"Hereditární angioedém","synonyms":["Familiární angioneurotický edém","HAE","Dědičný angioneurotický edém","Dědičný angioedém vyvolaný bradykininem","Dědičný angioedém nevyvolaný histaminem"]},"uk":{"name":"Спадковий ангіоневротичний набряк","synonyms":["Сімейний ангіоневротичний набряк","HAE","Спадковий ангіоневротичний набряк","Спадковий брадикінін-індукований ангіоневротичний набряк","Спадковий негістаміновий ангіоневротичний набряк"],"definition":"Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain."},"zh":{"name":"遗传性血管性水肿","synonyms":["遗传性肺组胺介导血管性水肿"]},"tr":{"name":"Kalıtsal anjiyoödem","synonyms":["HAE","Ailesel anjiyonörotik ödem","Kalıtsal anjiyonörotik ödem","Kalıtsal bradikininin neden olduğu anjiyoödem","Kalıtsal histamin kaynaklı olmayan anjiyoödem"]}},"xrefs":[{"source":"OMIM","code":"106100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610618","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619360","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619361","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619363","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619366","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619367","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-11","code":"4A00.14","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"795969334"},{"source":"MONDO","code":"0019623","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054179","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0019243","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5979","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019860","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":658,"name":"Non-histaminic angioedema","classifications":[195]},{"orpha":183770,"name":"Rare genetic immune disease","classifications":[156]}],"children":[{"orpha":528623,"name":"Hereditary angioedema with C1Inh deficiency","type":"Disease"},{"orpha":528647,"name":"Hereditary angioedema with normal C1Inh","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Europe","status":"Validated","source":"23662043[PMID]_European Medicines Agency 2018[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Denmark","status":"Validated","source":"19709101[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.51,"area":"Norway","status":"Validated","source":"11202238[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.09,"area":"Spain","status":"Validated","source":"15875532[PMID]"}],"phenotypes":null}