{"orpha":130,"name":"Brugada syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ventricular fibrillation, Brugada type"],"definition":"A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-130/","orphanet_url":"https://www.orpha.net/en/disease/detail/130","names":{"fr":{"name":"Syndrome de Brugada","synonyms":["Fibrillation ventriculaire type Brugada"],"definition":"Maladie cardiaque rare caractérisée sur l'électrocardiogramme (ECG) par un sus-décalage du segment ST et un aspect dit « en dôme » dans les dérivations précordiales droites, une susceptibilité à la tachyarythmie ventriculaire et à la mort subite en l'absence d'anomalies myocardiques manifestes."},"de":{"name":"Brugada-Syndrom","synonyms":["Kammerflimmern vom Typ Brugada"],"definition":"Eine Herzerkrankung, die im Elektrokardiogramm (EKG) durch eine gewölbte ST-Strecken-Hebungen der rechts präkordialen Ableitungen und eine klinische Prädisposition für ventrikuläre Tachyarrhythmien und plötzlichen Herztod ohne offensichtliche myokardiale Anomalien gekennzeichnet ist."},"es":{"name":"Síndrome de Brugada","synonyms":["Fibrilación ventricular tipo Brugada"],"definition":"Es un trastorno cardíaco caracterizado por una elevación del segmento ST con aspecto abovedado en las derivaciones precordiales derechas en el electrocardiograma (ECG) y una susceptibilidad clínica a las taquiarritmias ventriculares y a la muerte súbita que se produce en ausencia de anomalías cardiacas manifiestas."},"it":{"name":"Sindrome di Brugada","synonyms":["SUNDS"],"definition":"La sindrome di Brugada (SB) è una cardiopatia caratterizzata dal sopra-slivellamento del tratto ST con un aspetto concavo sulle derivazioni precordiali destre, evidente all'ECG, e predisposizione alle tachiaritmie ventricolari e alla morte improvvisa, in assenza di difetti evidenti del miocardio."},"nl":{"name":"Syndroom van Brugada","synonyms":["Kamerfibrillatie, Brugada-type","Ventrikelfibrillatie, Brugada-type","Ventrikelfibrilleren, Brugada-type"],"definition":"Een aandoening van hart, gekarakteriseerd door elevatie van ST-segment op elektrocardiogram (ECG) met een concaaf aspect in de rechts-precordiale afleidingen, en klinische susceptibiliteit voor ventriculaire tachyaritmie en plotselinge dood in afwezigheid van opvallende myocardiale anomalieën."},"pt":{"name":"Síndrome Brugada","synonyms":["Fibrilação ventricular, tipo Brugada"],"definition":"O síndrome de Brugada (BrS) manifesta-se com elevação do segmento ST nas derivações precordiais direitas (V1 a V3), bloqueio incompleto ou completo do ramo direito, e suscetibilidade a taquiarritmia ventricular e morte súbita. O BrS é uma patologia eléctrica sem anomalias evidentes do miocárdio."},"pl":{"name":"Zespół Brugada","synonyms":["Bangungut","Dream disease","Idiopatyczne migotanie komór, typu Brugada","SUNDS","Zespół nagłej niewyjaśnionej nocnej śmierci","Zespół Pokkuri"]},"cs":{"name":"Syndrom Brugadových","synonyms":["Bangungut","Snová choroba","Idiopatická fibrilace komor, typ Brugadových","Syndrom smrti \"Pokkuri","SUNDS","Syndrom náhlé nevysvětlené noční smrti","Syndrom bratří Brugadů"]},"uk":{"name":"Синдром Бругада","synonyms":["Ідіопатична фібриляція шлуночків, тип Бругада"],"definition":"A cardiac disorder characterized on electrocardiogram (ECG) by ST segment elevation with a coved aspect on the right precordial leads, and a clinical susceptibility to ventricular tachyarrhythmias and sudden death occurring in the absence of overt myocardial abnormalities."},"zh":{"name":"Brugada综合征","synonyms":["特发性心室颤动Brugada型"]},"tr":{"name":"Brugada sendromu","synonyms":["SUNDS","Bangungut","Dream hastalığı","Pokkuri letal sendromu","Açıklanamayan ani gece ölüm sendromu","İdiyopatik ventriküler fibrilasyon, Brugada tipi"]}},"xrefs":[{"source":"OMIM","code":"601144","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"611777","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611875","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611876","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612838","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613119","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613120","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613123","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616399","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I49.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"BC65.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1250136584"},{"source":"MONDO","code":"0015263","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D053840","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1142166","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1030","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10059027","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]}],"children":[],"genes":[{"symbol":"ABCC9","name":"ATP binding cassette subfamily C member 9","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"24439875[PMID]","hgnc":"60","ensembl":"ENSG00000069431","omim":"601439","loci":["12p12.1"]},{"symbol":"AKAP9","name":"A-kinase anchoring protein 9","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"27707468[PMID]_25016126[PMID]","hgnc":"379","ensembl":"ENSG00000127914","omim":"604001","loci":["7q21.2"]},{"symbol":"CACNA1C","name":"calcium voltage-gated channel subunit alpha1 C","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20301690[PMID]","hgnc":"1390","ensembl":"ENSG00000151067","omim":"114205","loci":["12p13.33"]},{"symbol":"CACNA2D1","name":"calcium voltage-gated channel auxiliary subunit alpha2delta 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20301690[PMID]_20817017[PMID]_17224476[PMID]","hgnc":"1399","ensembl":"ENSG00000153956","omim":"114204","loci":["7q21.11"]},{"symbol":"CACNB2","name":"calcium voltage-gated channel auxiliary subunit beta 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20301690[PMID]","hgnc":"1402","ensembl":"ENSG00000165995","omim":"600003","loci":["10p12"]},{"symbol":"GPD1L","name":"glycerol-3-phosphate dehydrogenase 1 like","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20301690[PMID]","hgnc":"28956","ensembl":"ENSG00000152642","omim":"611778","loci":["3p22.3"]},{"symbol":"HCN4","name":"hyperpolarization activated cyclic nucleotide gated potassium channel 4","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20301690[PMID]","hgnc":"16882","ensembl":"ENSG00000138622","omim":"605206","loci":["15q24.1"]},{"symbol":"KCND3","name":"potassium voltage-gated channel subfamily D member 3","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21349352[PMID]_20301690[PMID]","hgnc":"6239","ensembl":"ENSG00000171385","omim":"605411","loci":["1p13.2"]},{"symbol":"KCNE3","name":"potassium voltage-gated channel subfamily E regulatory subunit 3","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20301690[PMID]","hgnc":"6243","ensembl":"ENSG00000175538","omim":"604433","loci":["11q13.4"]},{"symbol":"KCNE5","name":"potassium voltage-gated channel subfamily E regulatory subunit 5","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21493962[PMID]","hgnc":"6241","ensembl":"ENSG00000176076","omim":"300328","loci":["Xq23"]},{"symbol":"KCNJ8","name":"potassium inwardly rectifying channel subfamily J member 8","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"22056721[PMID]_20301690[PMID]","hgnc":"6269","ensembl":"ENSG00000121361","omim":"600935","loci":["12p12.1"]},{"symbol":"PKP2","name":"plakophilin 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"27085656[PMID]","hgnc":"9024","ensembl":"ENSG00000057294","omim":"602861","loci":["12p11.21"]},{"symbol":"RANGRF","name":"RAN guanine nucleotide release factor","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"24142675[PMID]","hgnc":"17679","ensembl":"ENSG00000108961","omim":"607954","loci":["17p13.1"]},{"symbol":"SCN10A","name":"sodium voltage-gated channel alpha subunit 10","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"24998131[PMID]_25691538[PMID]","hgnc":"10582","ensembl":"ENSG00000185313","omim":"604427","loci":["3p22.2"]},{"symbol":"SCN1B","name":"sodium voltage-gated channel beta subunit 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20301690[PMID]","hgnc":"10586","ensembl":"ENSG00000105711","omim":"600235","loci":["19q13.11"]},{"symbol":"SCN2B","name":"sodium voltage-gated channel beta subunit 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23559163[PMID]_30821013[PMID]","hgnc":"10589","ensembl":"ENSG00000149575","omim":"601327","loci":["11q23.3"]},{"symbol":"SCN3B","name":"sodium voltage-gated channel beta subunit 3","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20301690[PMID]","hgnc":"20665","ensembl":"ENSG00000166257","omim":"608214","loci":["11q24.1"]},{"symbol":"SCNN1A","name":"sodium channel epithelial 1 subunit alpha","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"30821013[PMID]","hgnc":"10599","ensembl":"ENSG00000111319","omim":"600228","loci":["12p13.31"]},{"symbol":"SEMA3A","name":"semaphorin 3A","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"30821013[PMID]","hgnc":"10723","ensembl":"ENSG00000075213","omim":"603961","loci":["7q21.11"]},{"symbol":"SLMAP","name":"sarcolemma associated protein","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20301690[PMID]_23064965[PMID]","hgnc":"16643","ensembl":"ENSG00000163681","omim":"602701","loci":["3p14.3"]},{"symbol":"TRPM4","name":"transient receptor potential cation channel subfamily M member 4","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23382873[PMID]_20301690[PMID]","hgnc":"17993","ensembl":"ENSG00000130529","omim":"606936","loci":["19q13.33"]},{"symbol":"SCN5A","name":"sodium voltage-gated channel alpha subunit 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301690[PMID]","hgnc":"10593","ensembl":"ENSG00000183873","omim":"600163","loci":["3p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":75.0,"area":"South East Asia","status":"Not yet validated","source":"15898165[PMID]_23916535[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-03","source":"29020354[PMID]_29254832[PMID]_26220970[PMID]_20301690[PMID]","terms":[{"hpo":"HP:0001695","label":"Cardiac arrest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012251","label":"ST segment elevation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011705","label":"First degree atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004751","label":"Paroxysmal ventricular tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011704","label":"Sick sinus syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004755","label":"Supraventricular tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001663","label":"Ventricular fibrillation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011715","label":"Trifascicular block","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004308","label":"Ventricular arrhythmia","frequency":"Very rare (<4-1%)","criteria":null}]}}