{"orpha":99105,"name":"Atrial septal defect, sinus venosus type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ASD, sinus venosus type"],"definition":null,"note":"This disease is described under Interatrial communication","url":"https://raremap.alftech.space/d/ORPHA-99105/","orphanet_url":"https://www.orpha.net/en/disease/detail/99105","names":{"fr":{"name":"Communication interauriculaire type sinus venosus","synonyms":["ASD type sinus venosus","CIA type sinus venosus"]},"de":{"name":"Atriumseptumdefekt, Sinus venosus Typ","synonyms":["Vorhofseptumdefekt vom Sinus-venosus-Typ","ASD vom Sinus-venosus-Typ","Sinus-venosus-Defekt"]},"es":{"name":"Comunicación interauricular, tipo seno venoso","synonyms":["CIA, tipo seno venoso"]},"it":{"name":"DIA, tipo seno venoso"},"nl":{"name":"Atriaal septaal defect, sinus venosus-type","synonyms":["ASD, sinus venosus-type"]},"pt":{"name":"Deficiência do septo auricular, tipo sinus venosus"},"pl":{"name":"Ubytek przegrody międzyprzedsionkowej, typ zatoki żylnej","synonyms":["ASD, typ zatoki żylnej"]},"cs":{"name":"Defekt síňového septa, typ sinus venosus","synonyms":["ASD typ sinus venosus"]},"uk":{"name":"ВВС. Дефект міжпередсердної перетинки по типу дефекта венозного синуса (верхній чи нижній)","synonyms":["ASD, синусно-венозний тип"]},"zh":{"name":"房间隔缺损静脉窦型","synonyms":["静脉窦型房间隔缺损"]},"tr":{"name":"Atriyal septal defekt, sinüs venosus tipi","synonyms":["ASD, sinüs venosus tipi"]}},"xrefs":[{"source":"ICD-10","code":"Q21.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA8E.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1930019148"},{"source":"MONDO","code":"0020436","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C548009","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344730","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10696","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":"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"]}],"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":"30305954[PMID]_619811[PMID]_27090050[PMID]_31364173[PMID]","terms":[{"hpo":"HP:0012382","label":"Left-to-right shunt","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010772","label":"Anomalous pulmonary venous return","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031546","label":"Cardiac conduction abnormality","frequency":"Frequent (79-30%)","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:0031663","label":"Paradoxical splitting of the second heart sound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031664","label":"Systolic heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001692","label":"Atrial 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:0011700","label":"Automatic atrial tachycardia","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:0011716","label":"Junctional ectopic tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006699","label":"Premature atrial contractions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","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: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:0001635","label":"Congestive heart failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Very rare (<4-1%)","criteria":null}]}}