{"orpha":528623,"name":"Hereditary angioedema with C1Inh deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HAE with C1 inhibitor deficiency","HAE with C1Inh deficiency","Hereditary angioneurotic edema with C1 inhibitor deficiency","Hereditary angioneurotic edema with C1Inh deficiency"],"definition":"A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-528623/","orphanet_url":"https://www.orpha.net/en/disease/detail/528623","names":{"fr":{"name":"Angio-oedème héréditaire avec déficit en C1Inh","synonyms":["Angio-oedème bradykinique héréditaire avec déficit en C1Inh","Angio-oedème bradykinique héréditaire avec déficit en inhibiteur de C1","Angio-oedème héréditaire avec déficit en inhibiteur de C1","HAE avec déficit en C1Inh","HAE avec déficit en inhibiteur de C1","Oedème angioneurotique héréditaire avec déficit en C1Inh","Oedème angioneurotique héréditaire avec déficit en inhibiteur de C1"],"definition":"Angio-oedème héréditaire rare caractérisé par des épisodes, pouvant engager le pronostic vital, d'oedèmes sous-muqueux et/ou sous-cutanés sans urticaire, associé à un déficit en inhibiteur de la C1 estérase (C1-INH). L'angio-oedème héréditaire (HAE) type 1 est dû à un déficit quantitatif en C1-INH et l'HAE type 2 à un déficit qualitatif en C1-INH. Les signes cliniques de ces deux sous-types ne permettent pas de les différencier l'un de l'autre. À tout âge (mais généralement pendant l'enfance), les patients peuvent connaître des crises récurrentes d'oedèmes cutanés ne prenant pas le godet et présenter des symptômes abdominaux sévères tels que des douleurs et des gonflements, et/ou une détresse respiratoire due à une atteinte des voies respiratoires supérieures. Dans certains cas, des oedèmes des parties génitales, de la vessie, des muscles ou des articulations peuvent être observés."},"de":{"name":"Hereditäres Angioödem mit C1Inh-Mangel","synonyms":["HAE mit C1-Inhibitor-Mangel","HAE mit C1Inh-Mangel","Hereditäres angioneurotisches Ödem mit C1-Inhibitor-Mangel","Hereditäres angioneurotisches Ödem mit C1Inh-Mangel"],"definition":"Ein seltenes hereditäres Angioödem, das durch potenziell lebensbedrohliche Episoden von subkutanen und/oder submukösen Ödemen ohne Urtikaria gekennzeichnet ist und mit einem C1-Esterase-Inhibitor (C1-INH)-Mangel einhergeht. Das hereditäre Angioödem (HAE) Typ 1 wird durch quantitative, das HAE Typ 2 durch qualitative Defekte von C1-INH verursacht. Die beiden Subtypen sind klinisch nicht voneinander zu unterscheiden. Die Patienten können sich in jedem Alter (am häufigsten jedoch im Kindesalter) mit wiederkehrenden Anfällen von nicht-eindrückbare Hautödemen, schweren abdominalen Symptomen wie Schmerzen und Schwellungen und/oder Atembeschwerden aufgrund einer Beteiligung der oberen Atemwege vorstellen. In einigen Fällen können Genital-, Blasen-, Muskel- oder Gelenkschwellungen auftreten."},"es":{"name":"Angioedema hereditario con deficiencia de C1Inh","synonyms":["AEH con deficiencia de C1Inh","AEH con deficiencia de inhibidor C1","Edema angioneurótico hereditario con deficiencia de C1Inh","Edema angioneurótico hereditario con deficiencia de inhibidor C1"],"definition":"Es un angioedema hereditario poco frecuente caracterizado por episodios potencialmente mortales de edema subcutáneo y/o submucoso sin urticaria, asociados a la deficiencia del inhibidor de la C1 esterasa (C1-INH). El angioedema hereditario (AEH) de tipo 1 está causado por defectos cuantitativos y el AEH de tipo 2 por defectos cualitativos del C1-INH. Los dos subtipos son clínicamente indistinguibles. Los pacientes pueden presentarse a cualquier edad (aunque más comúnmente en la infancia) con ataques recurrentes de edema cutáneo sin fóvea, síntomas abdominales graves como dolor e hinchazón, y/o dificultad respiratoria debido a la afectación de las vías respiratorias superiores. En algunos casos puede producirse una inflamación de los genitales, la vejiga, los músculos o las articulaciones."},"it":{"name":"Angioedema ereditario con deficit di C1Inh","synonyms":["Edema angioneurotico ereditario con deficit di C1 inibitore","Edema angioneurotico ereditario con deficit di C1Inh","HAE con deficit di C1 inibitore","HAE con deficit di C1Inh"],"definition":"Si tratta di un angioedema ereditario raro, caratterizzato da episodi potenzialmente letali di edema sottocutaneo e/o sottomucoso, in assenza di orticaria, associato ad un deficit dell'inibitore della C1 esterasi (C1-INH). L'angioedema ereditario (HAE) tipo 1 è causato da difetti quantitativi, mentre l'HAE di tipo 2 da difetti qualitativi di C1-INH. Dal punto di vista clinico, i due sottotipi non sono distinguibili. La malattia può esordire ad ogni età (anche se in genere l'esordio è infantile) con episodi ricorrenti di edema della cute senza formazione di fossette, sintomi addominali gravi (dolore e gonfiore) e/o distress respiratorio secondario all'interessamento delle vie aeree superiori. Alcuni pazienti presentano gonfiore dei genitali, della vescica, dei muscoli o delle articolazioni."},"nl":{"name":"Erfelijk angio-oedeem met C1Inh-deficiëntie","synonyms":["Erfelijk angioneurotisch oedeem met C1-inhibitor-deficiëntie","Erfelijk angioneurotisch oedeem met C1Inh-deficiëntie","HAE met C1-inhibitor-deficiëntie","HAE met C1Inh-deficiëntie"],"definition":"Een zeldzaam hereditair angio-oedeem, gekarakteriseerd door potentieel levensbedreigende episodes van subcutaan en/of submucosaal oedeem zonder urticaria, geassocieerd met deficiëntie van C1-esteraseremmer (C1-INH). Hereditair angio-oedeem (HAE) type 1 en HAE type 2 worden respectievelijk veroorzaakt door kwantitatieve en kwalitatieve defecten van C1-INH. De twee subtypes zijn klinisch niet te onderscheiden van elkaar. Patiënten kunnen zich op elke leeftijd presenteren (maar meestal in de kindertijd) met recidiverende aanvallen van niet-wegdrukbaar ('non-pitting') oedeem van huid, ernstige abdominale symptomen zoals pijn en zwelling, en/of ademnood door betrokkenheid van bovenste luchtwegen. Zwelling van genitaliën, blaas, spieren, of gewrichten kan voorkomen in sommige gevallen."},"pt":{"name":"Angioedema hereditário com deficiência C1Inh"},"pl":{"name":"Dziedziczny obrzęk naczynioruchowy z niedoborem C1Inh","synonyms":["HAE z niedoborem C1Inh","HAE z niedoborem inhibitora C1","Dziedziczny obrzęk angioneurotyczny z niedoborem C1Inh","Dziedziczny obrzęk angioneurotyczny z niedoborem inhibitora C1"]},"cs":{"name":"Dědičný angioedém s deficitem C1Inh","synonyms":["HAE s deficitem C1Inh","HAE s deficitem inhibitoru C1","Dědičný angioneurotický edém s deficitem C1Inh","Dědičný angioneurotický edém s deficitem inhibitoru C1"]},"uk":{"name":"Спадковий ангіоневротичний набряк з дефіцитом C1Inh","synonyms":["HAE з дефіцитом С1-інгібітору","HAE з дефіцитом C1Inh","Спадковий ангіоневротичний набряк з дефіцитом С1-інгібітора","Спадковий ангіоневротичний набряк з дефіцитом C1Inh"],"definition":"A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases."},"zh":{"name":"遗传性血管性水肿伴C1Inh缺乏","synonyms":["遗传性血管神经性水肿伴C1抑制剂缺乏"]},"tr":{"name":"C1Inh eksikliği ile seyreden kalıtsal anjiyoödem","synonyms":["C1Inh eksikliği ile seyreden HAE","C1 inhibitör eksikliği ile seyreden HAE","C1Inh eksikliği ile seyreden kalıtsal anjiyonörotik ödem","C1 inhibitörü eksikliği ile seyreden kalıtsal anjiyonörotik ödem"]}},"xrefs":[{"source":"OMIM","code":"619360","qualifier":"BTNT","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":"attributed","validated":true},{"source":"MONDO","code":"0033946","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4552294","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080955","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]},{"orpha":250811,"name":"Serpinopathy with loss of serpin function","classifications":[156]}],"children":[{"orpha":100050,"name":"Hereditary angioedema type 1","type":"Etiological subtype"},{"orpha":100051,"name":"Hereditary angioedema type 2","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":100050,"name":"Hereditary angioedema type 1"}},{"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"],"via":{"orpha":100051,"name":"Hereditary angioedema type 2"}}],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":51.0,"area":"Worldwide","status":"Validated","source":"28795768[PMID]_29548426[PMID]_29987869[PMID]_29952006[PMID]_33799813[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"28795768[PMID]_29548426[PMID]_29987869[PMID]_29952006[PMID]_33799813[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-17","source":"29489144[PMID]_35442579[PMID]_27503784[PMID]_32187470[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100665","label":"Angioedema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034204","label":"Decreased circulating C1-esterase inhibitor concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045042","label":"Decreased circulating complement C4 concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6001012","label":"Erythema marginatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031188","label":"Genital edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012027","label":"Laryngeal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100748","label":"Muscular edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000507","label":"Non-pitting edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011855","label":"Pharyngeal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025527","label":"Serpiginous cutaneous lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012271","label":"Episodic upper airway obstruction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Excluded (0%)","criteria":null}]}}