{"orpha":528647,"name":"Hereditary angioedema with normal C1Inh","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HAE with normal C1 inhibitor","HAE with normal C1Inh","Hereditary angioedema with normal C1 inhibitor","Hereditary angioneurotic edema with normal C1 inhibitor","Hereditary angioneurotic edema with normal C1Inh"],"definition":"A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-528647/","orphanet_url":"https://www.orpha.net/en/disease/detail/528647","names":{"fr":{"name":"Angio-oedème héréditaire avec C1Inh normal","synonyms":["Angio-oedème bradykinique héréditaire avec C1Inh normal","Angio-oedème bradykinique héréditaire avec inhibiteur de C1 normal","Angio-oedème héréditaire avec inhibiteur de C1 normal","HAE avec C1Inh normal","HAE avec inhibiteur de C1 normal","Oedème angioneurotique héréditaire avec C1Inh normal","Oedème angioneurotique héréditaire avec inhibiteur de C1 normal"],"definition":"Angio-oedème héréditaire rare caractérisé par des épisodes, pouvant engager le pronostic vital, d'oedèmes sous-muqueux et/ou sous-cutanés sans urticaire et avec des taux normaux et une activité fonctionnelle normale de l'inhibiteur de la C1-estérase. Les patients connaissent des crises persistant de deux à cinq jours, à type d'oedèmes cutanés ne prenant pas le godet, de symptômes abdominaux sévères tels que des douleurs et des gonflements, et/ou de détresse respiratoire due à une atteinte des voies respiratoires supérieures. La localisation de l'atteinte et la fréquence des crises diffèrent légèrement en fonction du sous-type de la maladie. Les contraceptifs oraux à base d'oestrogènes et la grossesse sont des facteurs précipitants, notamment chez les patients porteurs d'une mutation du gène du facteur XII."},"de":{"name":"Hereditäres Angioödem mit normalem C1Inh","synonyms":["HAE mit normalem C1-Inhibitor","HAE mit normalem C1Inh","Hereditäres Angioödem mit normalem C1-Inhibitor","Hereditäres angioneurotisches Ödem mit normalem C1-Inhibitor","Hereditäres angioneurotisches Ödem mit normalem C1Inh"],"definition":"Ein seltenes hereditäres Angioödem, das durch potenziell lebensbedrohliche Episoden subkutaner und/oder submuköser Ödeme ohne Urtikaria und mit normaler Konzentration und Funktion des C1-Esterase-Inhibitors gekennzeichnet ist. Die Patienten leiden unter langwierigen Anfällen, die etwa zwei bis fünf Tage andauern und mit nicht-eindrückbare Hautödemen, schweren Unterleibssymptomen wie Schmerzen und Schwellungen und/oder Atemnot aufgrund einer Beteiligung der oberen Atemwege einhergehen können. Die betroffenen Stellen und die Häufigkeit der Anfälle unterscheiden sich leicht zwischen den einzelnen Subtypen. Östrogenhaltige orale Kontrazeptiva und Schwangerschaft sind auslösende Faktoren, insbesondere bei Patienten mit einer Faktor-XII-Mutation."},"es":{"name":"Angioedema hereditario con C1Inh normal","synonyms":["AEH con C1Inh normal","AEH con inhibidor C1 normal","Angioedema hereditario con inhibidor C1 normal","Edema angioneurótico hereditario con C1Inh normal","Edema angioneurótico hereditario con inhibidor C1 normal"],"definition":"Es un angioedema hereditario poco frecuente caracterizado por episodios potencialmente mortales de edema subcutáneo y/o submucoso sin urticaria y con niveles y función del inhibidor de la C1 esterasa normales. Los pacientes presentan ataques prolongados que duran aproximadamente de dos a cinco días y pueden incluir edema cutáneo sin fóvea, síntomas abdominales graves como dolor e hinchazón, y/o dificultad respiratoria debido a la afectación de las vías respiratorias superiores. Las localizaciones afectadas y la frecuencia de los ataques difieren ligeramente entre los subtipos. Los anticonceptivos orales que contienen estrógenos y el embarazo constituyen factores precipitantes, especialmente en pacientes con una mutación del factor XII."},"it":{"name":"Angioedema ereditario con C1Inh normale","synonyms":["Angioedema ereditario con C1 inibitore normale","Edema angioneurotico ereditario C1 inibitore normale","Edema angioneurotico ereditario con C1Inh normale","HAE con C1 inibitore normale","HAE con C1Inh normale"],"definition":"Si tratta di un angioedema ereditario raro, caratterizzato da episodi potenzialmente letali di edema sottocutaneo e/o sottomucoso, in assenza di orticaria, e con normali livelli e funzione dell'inibitore della C1 esterasi. I pazienti presentano episodi prolungati, della durata di circa due-cinque giorni, che possono comprendere l'edema della cute senza formazione di fossette, sintomi addominali gravi (dolore e gonfiore), e/o distress respiratorio secondario all'interessamento delle vie aeree superiori. La localizzazione e la frequenza degli episodi variano leggermente a seconda del sottotipo. I contraccettivi orali contenenti estrogeni e la gravidanza sono fattori scatenanti, soprattutto nelle pazienti portatrici di una mutazione del fattore XII."},"nl":{"name":"Erfelijk angio-oedeem met normale C1Inh","synonyms":["HAE met normale C1-inhibitor","HAE met normale C1Inh","Erfelijk angio-oedeem met normale C1-inhibitor","Erfelijk angioneurotisch oedeem met normale C1-inhibitor","Erfelijk angioneurotisch oedeem met normale C1Inh"],"definition":"Een zeldzaam hereditair angio-oedeem, gekarakteriseerd door potentieel levensbedreigende episodes van subcutaan en/of submucosaal oedeem zonder urticaria en met normale gehaltes en functie van C1-esteraseremmer. Patiënten presenteren zich met langdurige aanvallen die ongeveer twee tot vijf dagen duren, en die mogelijk bestaan uit niet-wegdrukbaar ('non-pitting') oedeem van huid, ernstige abdominale symptomen zoals pijn en zwelling, en/of ademnood door betrokkenheid van bovenste luchtwegen. De plaatsen die aangetast worden en de frequentie van de aanvallen verschillen licht tussen subtypes. Orale contraceptiva die oestrogeen bevatten en zwangerschap zijn uitlokkende factoren, vooral bij patiënten met een mutatie in factor XII."},"pt":{"name":"Angioedema adquirido com C1Inh normal"},"pl":{"name":"Dziedziczny obrzęk naczynioruchowy z prawidłowym poziomem C1Inh","synonyms":["HAE z prawidłowym poziomem C1Inh","HAE z prawidłowym poziomem inhibitora C1","Dziedziczny obrzęk naczynioruchowy z prawidłowym poziomem inhibitora C1","Dziedziczny obrzęk angioneurotyczny z prawidłowym poziomem C1Inh","Dziedziczny obrzęk angioneurotyczny z prawidłowym poziomem inhibitora C1"]},"cs":{"name":"Dědičný angioedém s normální koncentrací C1Inh","synonyms":["HAE s normální koncentrací C1Inh","HAE s normální koncentrací inhibitoru C1","Dědičný angioedém s normální koncentrací inhibitoru C1","Dědičný angioneurotický edém s normální koncentrací C1Inh","Dědičný angioneurotický edém s normální koncentrací inhibitoru C1"]},"uk":{"name":"Спадковий ангіоневротичний набряк з нормальним C1Inh","synonyms":["САН з нормальним рівнем С1-інгібітору","САН з нормальним C1Inh","Спадковий ангіоневротичний набряк з нормальним рівнем інгібітору С1","Спадковий ангіоневротичний набряк з нормальним рівнем інгібітору С1","Спадковий ангіоневротичний набряк з нормальним C1Inh"],"definition":"A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation."},"zh":{"name":"C1Inh正常的遗传性血管性水肿","synonyms":["C1抑制剂正常的遗传性血管性水肿"]},"tr":{"name":"Normal C1Inh ile seyreden kalıtsal anjiyoödem","synonyms":["Normal C1Inh ile seyreden HAE","Normal C1 inhibitör ile seyreden HAE","Normal C1 inhibitörü ile seyreden kalıtsal anjiyoödem","Normal C1Inh ile seyreden kalıtsal anjiyonörotik ödem","Normal C1 inhibitörü ile seyreden kalıtsal anjiyonörotik ödem"]}},"xrefs":[{"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":"0033947","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"100567","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"33947","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1960459","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080953","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":91378,"name":"Hereditary angioedema","classifications":[156,195]}],"children":[{"orpha":100054,"name":"F12-related hereditary angioedema with normal C1Inh","type":"Clinical subtype"},{"orpha":599418,"name":"Hereditary angioedema with normal C1Inh not related to F12 or PLG variant","type":"Clinical subtype"},{"orpha":537072,"name":"PLG-related hereditary angioedema with normal C1Inh","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":100054,"name":"F12-related hereditary angioedema with normal C1Inh"}},{"symbol":"ANGPT1","name":"angiopoietin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28601681[PMID]","hgnc":"484","ensembl":"ENSG00000154188","omim":"601667","loci":["8q23.1"],"via":{"orpha":599418,"name":"Hereditary angioedema with normal C1Inh not related to F12 or PLG variant"}},{"symbol":"HS3ST6","name":"heparan sulfate-glucosamine 3-sulfotransferase 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33799813[PMID]","hgnc":"14178","ensembl":"ENSG00000162040","omim":"619210","loci":["16p13.3"],"via":{"orpha":599418,"name":"Hereditary angioedema with normal C1Inh not related to F12 or PLG variant"}},{"symbol":"KNG1","name":"kininogen 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33059692[PMID]","hgnc":"6383","ensembl":"ENSG00000113889","omim":"612358","loci":["3q27.3"],"via":{"orpha":599418,"name":"Hereditary angioedema with normal C1Inh not related to F12 or PLG variant"}},{"symbol":"MYOF","name":"myoferlin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33508266[PMID]","hgnc":"3656","ensembl":"ENSG00000138119","omim":"604603","loci":["10q23.33"],"via":{"orpha":599418,"name":"Hereditary angioedema with normal C1Inh not related to F12 or PLG variant"}},{"symbol":"PLG","name":"plasminogen","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28795768[PMID]","hgnc":"9071","ensembl":"ENSG00000122194","omim":"173350","loci":["6q26"],"via":{"orpha":537072,"name":"PLG-related hereditary angioedema with normal C1Inh"}}],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-11-27","source":"34343365[PMID]_28687110[PMID]_24565612[PMID]","terms":[{"hpo":"HP:0100665","label":"Angioedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010742","label":"Edema of the upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005225","label":"Intestinal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012027","label":"Laryngeal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031188","label":"Genital edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040315","label":"Tongue edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0045042","label":"Decreased circulating complement C4 concentration","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Excluded (0%)","criteria":null}]}}