{"orpha":1479,"name":"Atrial septal defect-atrioventricular conduction defects syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1479/","orphanet_url":"https://www.orpha.net/en/disease/detail/1479","names":{"fr":{"name":"Syndrome de communication interauriculaire-trouble de la conduction atrioventriculaire","definition":"Le syndrome de communication interauriculaire-trouble de la conduction atrioventriculaire est un cardiopathie génétique congénitale extrêmement rare caractérisée par la présence d'une communication interauriculaire, surtout de type ostium secundum, associée à des anomalies de conduction telles qu'un bloc auriculoventriculaire, une fibrillation auriculaire ou un bloc de branche droit."},"de":{"name":"Atriumseptumdefekt mit atrio-ventrikulären Reizleitungsstörungen","synonyms":["Vorhofseptumdefekt mit atrio-ventrikulären Reizleitungsstörungen"],"definition":"Eine extrem seltene genetisch bedingte Herzerkrankung, die durch das Vorhandensein eines Vorhofseptumdefekts, meist vom Typ Ostium secundum, gekennzeichnet ist und mit Erregungsleitungsanomalien wie Atrioventrikularblock, Vorhofflimmern oder Rechtsschenkelblock einhergeht."},"es":{"name":"Síndrome de comunicación interauricular con defecto de conducción","definition":"Es una cardiopatía congénita genética extremadamente infrecuente caracterizada por la presencia de CIA, principalmente del tipo ostium secundum, asociada con anomalías de la conducción como el bloqueo aurículoventricular, la fibrilación auricular o el bloqueo de rama derecha."},"it":{"name":"Difetto interatriale con difetto di conduzione","definition":"Il difetto del setto atriale (ASD) con disturbi della conduzione atrioventricolare è una cardiopatia congenita genetica estremamente rara caratterizzata dalla presenza del ASD, per lo più tipo ostium secundum (si veda questo termine), associato a disturbi della conduzione, come il blocco atrioventricolare, la fibrillazione atriale o il blocco di branca destra."},"nl":{"name":"Atriumseptumdefect - atrioventriculaire geleidingsdefecten-syndroom","definition":"Een uiterst zeldzame, genetische, congenitale hartziekte, gekarakteriseerd door de aanwezigheid van atriumseptumdefect, meestal het ostium secundum-type, geassocieerd met geleidingsstoornissen zoals atrioventriculair blok, atriumfibrillatie of rechterbundeltakblok."},"pt":{"name":"Comunicação inter-auricular-defeito na condução auriculo-ventricular"},"pl":{"name":"Wada przegrody międzyprzedsionkowej - zaburzenia przewodzenia przedsionkowo-komorowe"},"cs":{"name":"Syndrom zahrnující defekt septa síní a poruchy atrioventrikulárního převodu"},"uk":{"name":"Синдром дефекту міжпередсердної перегородки-порушення атріовентрикулярної провідності","definition":"An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block."},"zh":{"name":"房间隔缺损-房室传导障碍综合征"},"tr":{"name":"Atriyal septal defekt-atriyoventriküler kondüksiyon defektleri sendromu"}},"xrefs":[{"source":"OMIM","code":"108900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q21.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8E.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007173","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510872","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"NKX2-5","name":"NK2 homeobox 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19049681[PMID]_18375255[PMID]","hgnc":"2488","ensembl":"ENSG00000183072","omim":"600584","loci":["5q35.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["No data available"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"9561886[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-02","source":null,"terms":[{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011710","label":"Bundle branch block","frequency":"Very frequent (99-80%)","criteria":null}]}}