{"orpha":99103,"name":"Atrial septal defect, ostium secundum type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ASD, ostium secundum type"],"definition":null,"note":"This disease is described under Interatrial communication","url":"https://raremap.alftech.space/d/ORPHA-99103/","orphanet_url":"https://www.orpha.net/en/disease/detail/99103","names":{"fr":{"name":"Anomalie du septum atrial type ostium secundum","synonyms":["ASD type ostium secundum","CIA type ostium secundum"]},"de":{"name":"Atriumseptumdefekt, Sekundum-Typ","synonyms":["ASD vom Secundum-Typ","Atrioseptaldefekt vom Septum-secundum-Typ","Septum-secundum-Defekt","Vorhofseptumdefekt vom Sekundumtyp"]},"es":{"name":"Comunicación interauricular, tipo ostium secundum","synonyms":["CIA, tipo ostium secundum"]},"it":{"name":"Difetto del setto atriale, tipo ostium secundum"},"nl":{"name":"Atriaal septaal defect, ostium secundum-type","synonyms":["ASD, ostium secundum-type"]},"pt":{"name":"Defeito do septo auricular, tipo ostium secundum"},"pl":{"name":"Ubytek przegrody międzyprzedsionkowej, typ otworu wtórnego","synonyms":["ASD, typ otworu wtórnego"]},"cs":{"name":"Defekt síňového septa, typ ostium secundum","synonyms":["ASD typ ostium secundum"]},"uk":{"name":"ВВС. Вторинний дефект міжпередсердної перетинки","synonyms":["ASD, тип ostium secundum"]},"zh":{"name":"房间隔缺损继发孔型","synonyms":["继发孔型ASD"]},"tr":{"name":"Atriyal septal defekt, ostium sekundum tipi","synonyms":["ASD, ostium sekundum tipi"]}},"xrefs":[{"source":"OMIM","code":"611363","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614089","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614430","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q21.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA8E.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1875768490"},{"source":"MONDO","code":"0020434","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344724","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5865","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10031303","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1478,"name":"Interatrial communication","classifications":[147,148,156]}],"children":[],"genes":[{"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"]},{"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"]},{"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"]},{"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"]},{"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"]},{"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"]},{"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"]},{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-10","source":"21505579[PMID]_29250321[PMID]_30799379[PMID]_30305954[PMID]_30571061[PMID]","terms":[{"hpo":"HP:0012382","label":"Left-to-right shunt","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030718","label":"Right atrial enlargement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031664","label":"Systolic heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005162","label":"Abnormal left ventricular function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004749","label":"Atrial flutter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005957","label":"Breathing dysregulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011710","label":"Bundle branch block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011705","label":"First degree atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012764","label":"Orthopnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005133","label":"Right ventricular dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012250","label":"ST segment depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005115","label":"Supraventricular arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004755","label":"Supraventricular tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006536","label":"Airway obstruction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005317","label":"Increased pulmonary vascular resistance","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Very rare (<4-1%)","criteria":null}]}}