{"orpha":1478,"name":"Interatrial communication","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["ASD","Atrial septal defect","Interauricular communication"],"definition":"A congenital cardiac malformation characterized by a communication between the atrial chambers of the heart.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1478/","orphanet_url":"https://www.orpha.net/en/disease/detail/1478","names":{"fr":{"name":"Communication interauriculaire","synonyms":["ASD","Anomalie du septum auriculaire","CIA","Communication interatriale"],"definition":"Malformation cardiaque congénitale caractérisée par une communication entre les oreillettes du coeur."},"de":{"name":"Interatriale Kommunikation","synonyms":["ASD","Atrialer Septumdefekt","Atriumseptumdefekt","Vorhofseptumdefekt"],"definition":"Eine angeborene Fehlbildung des Herzens, die durch eine Verbindung zwischen den Vorhofkammern des Herzens gekennzeichnet ist."},"es":{"name":"Comunicación interauricular","synonyms":["CIA","Defecto septal atrial"],"definition":"Es una malformación cardíaca congénita caracterizada por una comunicación entre las cavidades auriculares del corazón."},"it":{"name":"Comunicazione interatriale","synonyms":["ASD","Difetto del setto atriale"],"definition":"Si tratta di una cardiopatia congenita caratterizzata da una comunicazione tra gli atri del cuore."},"nl":{"name":"Interatriale communicatie","synonyms":["ASD","Atriumseptumdefect","Interauriculaire communicatie"],"definition":"Een congenitale malformatie van hart, gekarakteriseerd door een communicatie tussen de atria van het hart."},"pt":{"name":"Comunicação inter-auricular","synonyms":["CIA"]},"pl":{"name":"Komunikacja międzyprzedsionkowa","synonyms":["ASD","Wada przegrody międzyprzedsionkowej"]},"cs":{"name":"Defekt síňového septa","synonyms":["ASD","Spojení mezi oušky síní","Mezisíňová komunikace"]},"uk":{"name":"Міжпередсердна комунікація","synonyms":["ASD","Дефект міжпередсердної перегородки","Міжаурикулярна комунікація"],"definition":"A congenital cardiac malformation characterized by a communication between the atrial chambers of the heart."},"zh":{"name":"房间隔缺损","synonyms":["心房贯通"]},"tr":{"name":"İnteratriyal iletişim","synonyms":["ASD","Atriyal septal defekt","İnteraurikular iletişim"]}},"xrefs":[{"source":"OMIM","code":"108800","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"607941","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611363","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612794","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613087","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614089","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614433","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614475","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q21.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA8E.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1285985084"},{"source":"MONDO","code":"0006664","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006344","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0018817","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10003664","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":271853,"name":"Genetic cardiac anomaly","classifications":[156]},{"orpha":98727,"name":"Rare atrial defect and interatrial communication","classifications":[147,148]}],"children":[{"orpha":99104,"name":"Atrial septal defect, coronary sinus type","type":"Clinical subtype"},{"orpha":99106,"name":"Atrial septal defect, ostium primum type","type":"Clinical subtype"},{"orpha":99103,"name":"Atrial septal defect, ostium secundum type","type":"Clinical subtype"},{"orpha":99105,"name":"Atrial septal defect, sinus venosus type","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"TBX20","name":"T-box transcription factor 20","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"19762328[PMID]","hgnc":"11598","ensembl":"ENSG00000164532","omim":"606061","loci":["7p14.2"],"via":{"orpha":99103,"name":"Atrial septal defect, ostium secundum type"}},{"symbol":"TBX20","name":"T-box transcription factor 20","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19762328[PMID]","hgnc":"11598","ensembl":"ENSG00000164532","omim":"606061","loci":["7p14.2"],"via":{"orpha":99103,"name":"Atrial septal defect, ostium secundum type"}},{"symbol":"ACTC1","name":"actin alpha cardiac muscle 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17947298[PMID]","hgnc":"143","ensembl":"ENSG00000159251","omim":"102540","loci":["15q14"],"via":{"orpha":99103,"name":"Atrial septal defect, ostium secundum type"}},{"symbol":"CITED2","name":"Cbp/p300 interacting transactivator with ED-rich tail 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16287139[PMID]","hgnc":"1987","ensembl":"ENSG00000164442","omim":"602937","loci":["6q24.1"],"via":{"orpha":99103,"name":"Atrial septal defect, ostium secundum type"}},{"symbol":"CITED2","name":"Cbp/p300 interacting transactivator with ED-rich tail 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16287139[PMID]","hgnc":"1987","ensembl":"ENSG00000164442","omim":"602937","loci":["6q24.1"],"via":{"orpha":99105,"name":"Atrial septal defect, sinus venosus type"}},{"symbol":"GATA4","name":"GATA binding protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12845333[PMID]_15810002[PMID]_20347099[PMID]","hgnc":"4173","ensembl":"ENSG00000136574","omim":"600576","loci":["8p23.1"],"via":{"orpha":99103,"name":"Atrial septal defect, ostium secundum type"}},{"symbol":"GATA6","name":"GATA binding protein 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20631719[PMID]","hgnc":"4174","ensembl":"ENSG00000141448","omim":"601656","loci":["18q11.2"],"via":{"orpha":99103,"name":"Atrial septal defect, ostium secundum type"}},{"symbol":"MYH6","name":"myosin heavy chain 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15735645[PMID]","hgnc":"7576","ensembl":"ENSG00000197616","omim":"160710","loci":["14q11.2"],"via":{"orpha":99103,"name":"Atrial septal defect, ostium secundum type"}},{"symbol":"NKX2-5","name":"NK2 homeobox 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21285290[PMID]_15810002[PMID]","hgnc":"2488","ensembl":"ENSG00000183072","omim":"600584","loci":["5q35.1"],"via":{"orpha":99103,"name":"Atrial septal defect, ostium secundum type"}},{"symbol":"TLL1","name":"tolloid like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18830233[PMID]","hgnc":"11843","ensembl":"ENSG00000038295","omim":"606742","loci":["4q32.3"],"via":{"orpha":99103,"name":"Atrial septal defect, ostium secundum type"}},{"symbol":"TLL1","name":"tolloid like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18830233[PMID]","hgnc":"11843","ensembl":"ENSG00000038295","omim":"606742","loci":["4q32.3"],"via":{"orpha":99106,"name":"Atrial septal defect, ostium primum type"}}],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":3.0,"area":"Worldwide","status":"Not yet validated","source":"39144879[PMID]_23225563[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-10-23","source":"30571061[PMID]_32622487[PMID]_34535989[PMID]","terms":[{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001684","label":"Secundum atrial septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031664","label":"Systolic heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004749","label":"Atrial flutter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010445","label":"Primum atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033567","label":"Right axis deviation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005133","label":"Right ventricular dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011567","label":"Sinus venosus atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031297","label":"Unroofed coronary sinus","frequency":"Very rare (<4-1%)","criteria":null}]}}