{"orpha":100054,"name":"F12-related hereditary angioedema with normal C1Inh","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["F12-related HAE with normal C1 inhibitor","HAE 3","HAE-III","Hereditary angioedema type 3","Hereditary angioneurotic edema type 3","Inherited estrogen-associated angioedema","Inherited estrogen-associated angioneurotic edema","Inherited estrogen-dependent angioedema","Inherited estrogen-dependent angioneurotic edema"],"definition":"A rare hereditary angioedema characterized by normal serum levels and function of C1 inhibitor, normal C1 activity, and, clinically, recurrent subcutaneous edema, abdominal pain attacks, and episodes of potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women, and episodes are often precipitated or worsened by high estrogen levels (such as during pregnancy or treatment with oral contraceptives).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100054/","orphanet_url":"https://www.orpha.net/en/disease/detail/100054","names":{"fr":{"name":"Angio-oedème héréditaire avec C1Inh normal lié à F12","synonyms":["Angio-oedème bradykinique héréditaire de type III","Angio-oedème héréditaire oestrogène-dépendant","Angio-oedème héréditaire sensible aux oestrogènes","Angio-oedème héréditaire type 3","HAE 3","HAE-III","Oedème angioneurotique héréditaire oestrogène-dépendant","Oedème angioneurotique héréditaire sensible aux oestrogènes","Oedème angioneurotique héréditaire type III"],"definition":"Angio-oedème héréditaire rare caractérisé par une fonction et des taux sériques normaux de l'inhibiteur de la C1 estérase, une activité normale de la C1 estérase et, sur le plan clinique, par des oedèmes sous-cutanés récurrents, des crises de douleur abdominale et des épisodes d'obstruction des voies respiratoires supérieures pouvant engager le pronostic vital du patient. La maladie survient presque exclusivement chez la femme et les épisodes sont souvent précipités ou aggravés par des taux élevés d'oestrogènes (pendant la grossesse ou en cas de prise de contraceptifs oraux)."},"de":{"name":"F12-assoziiertes hereditäres Angioödem mit normalem C1-INH","synonyms":["Angioneurotisches Ödem, hereditäres, Typ 3","Angioödem, hereditäres, Typ 3","F12-assoziiertes HAE mit normalem C1-Inhibitor","HAE 3","HAE-III","Vererbtes Östrogen-abhängiges Angioneurotisches Ödem","Vererbtes Östrogen-assoziiertes Angioödem"],"definition":"Ein seltenes hereditäres Angioödem, das durch normale Serumspiegel und Funktion des C1-Inhibitors, normale C1-Aktivität und klinisch durch wiederkehrende subkutane Ödeme, Bauchschmerzattacken und Episoden einer potenziell lebensbedrohlichen Obstruktion der oberen Atemwege gekennzeichnet ist. Die Erkrankung tritt fast ausschließlich bei Frauen auf, und die Episoden werden häufig durch hohe Östrogenspiegel (z. B. während der Schwangerschaft oder der Behandlung mit oralen Kontrazeptiva) ausgelöst oder verschlimmert."},"es":{"name":"Angioedema hereditario con C1Inh normal asociado a F12","synonyms":["AEH 3","AEH con C1Inh normal asociado a F12","AEH-III","Angioedema hereditario asociado a estrógenos","Angioedema hereditario estrógeno dependiente","Angioedema hereditario tipo 3","Edema angioneurótico hereditario asociado a estrógenos","Edema angioneurótico hereditario estrógeno dependiente","Edema angioneurótico hereditario tipo 3"],"definition":"Es un angioedema hereditario poco frecuente caracterizado por niveles séricos y función del inhibidor de C1 normales, actividad de C1 normal y, clínicamente, edema subcutáneo recurrente, ataques de dolor abdominal y episodios de obstrucción de las vías respiratorias superiores potencialmente mortales. El trastorno ocurre casi exclusivamente en mujeres y los episodios suelen estar desencadenados o exacerbados por niveles altos de estrógeno (durante el embarazo o el tratamiento con anticonceptivos orales)."},"it":{"name":"Angioedema ereditario, tipo 3","synonyms":["Angioedema estrogeno-associato ereditario","Angioedema estrogeno-dipendente ereditario","Edema angioneurotico ereditario, tipo 3","Edema angioneurotico estrogeno-associato ereditario","Edema angioneurotico estrogeno-dipendente ereditario","HAE 3","HAE-III"],"definition":"L'angioedema ereditario tipo 3 (HAE 3) è una forma di angioedema ereditario (si veda qauesto termine) caratterizzata da edema acuto nei tessuti sottocutanei, nei visceri e/o nelle vie respiratorie superiori."},"nl":{"name":"F12-gerelateerd erfelijk angio-oedeem met normale C1Inh","synonyms":["Erfelijk angio-oedeem type 3","Erfelijk angioneurotisch oedeem type 3","F12-gerelateerd HAE met normale C1-inhibitor","HAE 3","HAE-III","Hereditair angio-oedeem type 3","Overgeërfd oestrogeenafhankelijk angio-oedeem","Overgeërfd oestrogeenafhankelijk angioneurotisch oedeem","Overgeërfd oestrogeengeassocieerd angio-oedeem","Overgeërfd oestrogeengeassocieerd angioneurotisch oedeem"],"definition":"Een zeldzaam hereditair angio-oedeem, gekenmerkt door normale serumspiegel en functie van C1-inhibitor, normale C1-activiteit, en, klinisch, recidiverend subcutaan oedeem, aanvallen van abdominale pijn, en episodes van potentieel levensbedreigende obstructie van bovenste luchtwegen. De aandoening komt nagenoeg enkel voor bij vrouwen, en episodes worden vaak uitgelokt of verergerd door hoge gehaltes van oestrogeen (zoals tijdens zwangerschap of behandeling met orale contraceptiva)."},"pt":{"name":"Angioedema hereditário F12-relacionado com C1Inh normal","synonyms":["Angioedema hereditário tipo 3","Edema angioneurótico hereditário tipo 3","HAE 3","HAE-III"],"definition":"Angioedema hereditário raro caracterizado por níveis séricos normais e função do inibidor de C1, atividade normal de C1 e, clinicamente, edema subcutâneo recorrente, ataques de dor abdominal e episódios de obstrução das vias aéreas superiores potencialmente fatais. A doença ocorre quase exclusivamente em individuos femininos e os episódios são frequentemente precipitados ou agravados por altos níveis de estrogénio (como durante a gravidez ou tratamento com contraceptivos orais)."},"pl":{"name":"Dziedziczny obrzęk naczynioruchowy typu 3","synonyms":["Dziedziczny obrzęk angioneurotyczny typu 3","Dziedziczny obrzęk angioneurotyczny zależny od estrogenów","Dziedziczny obrzęk angioneurotyczny związany z estrogenami","Dziedziczny obrzęk naczynioruchowy zależny od estrogenów","Dziedziczny obrzęk naczynioruchowy związany z estrogenami","HAE 3","HAE-III"],"definition":"Rzadki dziedziczny obrzęk naczynioruchowy charakteryzujący się prawidłową funkcją i stężeniem w surowicy inhibitora C1, prawidłową aktywnością C1, a klinicznie nawracającym obrzękiem podskórnym, napadowymi bólami brzucha i epizodami potencjalnie zagrażającej życiu niedrożności górnych dróg oddechowych. Zaburzenie to występuje prawie wyłącznie u kobiet, a epizody często są wyzwalane lub ulegają nasileniu wskutek wysokiego poziomu estrogenów (np. podczas ciąży lub stosowania doustnych środków antykoncepcyjnych)."},"cs":{"name":"Hereditární angioedém, typ 3","synonyms":["HAE 3","HAE-III","Hereditární angioneurotický edém, typ 3","Zděděný angioedém související s estrogenem","Zděděný angioneurotický edém související s estrogenem","Zděděný estrogen-dependentní angioedém","Zděděný estrogen-dependentní angioneurotický edém"]},"uk":{"name":"Спадковий ангіоневротичний набряк, повязаний з F12, з нормальним C1Inh","synonyms":["F12-асоційований САН з нормальним інгібітором С1","САН 3","САН-III","Спадковий ангіоневротичний набряк типу 3","Спадковий ангіоневротичний набряк типу 3","Спадковий естроген-асоційований ангіоневротичний набряк","Спадковий естроген-асоційований ангіоневротичний набряк","Спадковий естроген-залежний ангіоневротичний набряк","Спадковий естроген-залежний ангіоневротичний набряк"],"definition":"A rare hereditary angioedema characterized by normal serum levels and function of C1 inhibitor, normal C1 activity, and, clinically, recurrent subcutaneous edema, abdominal pain attacks, and episodes of potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women, and episodes are often precipitated or worsened by high estrogen levels (such as during pregnancy or treatment with oral contraceptives)."},"zh":{"name":"C1Inh正常的F12相关遗传性血管性水肿","synonyms":["遗传性雌激素相关性血管神经性水肿"],"definition":"遗传性血管性水肿3型(HAE 3)是遗传性血管性水肿（见此水肿的一种形式，其特征是皮下组织、内脏和/或上呼吸道的急性水"},"tr":{"name":"Normal C1Inh ile seyreden F12 -ilişkili kalıtsal anjiyoödem","synonyms":["HAE 3","HAE-III","Kalıtsal anjiyoödem tip 3","Kalıtsal anjiyonörotik ödem tip 3","Kalıtsal östrojene bağlı anjiyoödem","Normal C1 inhibitörü ile F12-ilişkili HAE","Kalıtsal östrojenle ilişkili anjiyoödem","Kalıtsal östrojene bağlı anjiyonörotik ödem","Kalıtsal östrojen-ilişkili anjiyonörotik ödem"]}},"xrefs":[{"source":"OMIM","code":"610618","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"T78.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.14","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012526","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056828","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857728","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":528647,"name":"Hereditary angioedema with normal C1Inh","classifications":[156,195]}],"children":[],"genes":[{"symbol":"F12","name":"coagulation factor XII","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20384613[PMID]","hgnc":"3530","ensembl":"ENSG00000131187","omim":"610619","loci":["5q35.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}