{"orpha":99106,"name":"Atrial septal defect, ostium primum type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ASD, ostium primum type"],"definition":null,"note":"This disease is described under Interatrial communication","url":"https://raremap.alftech.space/d/ORPHA-99106/","orphanet_url":"https://www.orpha.net/en/disease/detail/99106","names":{"fr":{"name":"Communication interauriculaire type ostium primum","synonyms":["ASD type ostium primum","CIA type ostium primum"]},"de":{"name":"Atriumseptumdefekt, Ostium primum Typ","synonyms":["ASD vom Ostium-Primum-Typ","Ostium-primum-Defekt","Septum-primum-Defekt","Vorhofseptumdefekt vom Ostium-primum-Typ"]},"es":{"name":"Comunicación interauricular, tipo ostium primum","synonyms":["CIA, tipo ostium primum"]},"it":{"name":"DIA, tipo ostium primum"},"nl":{"name":"Atriaal septaal defect, ostium primum-type","synonyms":["ASD, ostium primum-type"]},"pt":{"name":"Defeito do septo auricular, tipo ostium primum","synonyms":["CIA, tipo ostium primum"]},"pl":{"name":"Ubytek przegrody międzyprzedsionkowej, typ otworu pierwotnego","synonyms":["ASD, typ otworu pierwotnego"]},"cs":{"name":"Defekt síňového septa, typ ostium primum","synonyms":["ASD typ ostium primum"]},"uk":{"name":"ВВС. Первинний дефект міжпередсердної перетинки","synonyms":["ASD, тип ostium primum"]},"zh":{"name":"房间隔缺损原发孔型","synonyms":["原始型房间隔缺损"]},"tr":{"name":"Atriyal septal defekt, ostium primum tip","synonyms":["ASD, ostium primum tipi"]}},"xrefs":[{"source":"ICD-10","code":"Q21.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"MONDO","code":"0020437","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C548006","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680294","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10695","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":"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":"2020-03-11","source":"24725467[PMID]_13410952[PMID]","terms":[{"hpo":"HP:0031595","label":"Abnormal P wave","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031687","label":"Abnormally loud pulmonic component of the second heart sound","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:0011705","label":"First degree atrioventricular block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031662","label":"Fixed splitting of the second heart sound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012248","label":"Prolonged PR interval","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004927","label":"Pulmonary artery dilatation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005133","label":"Right ventricular dilatation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031664","label":"Systolic heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031658","label":"Third heart sound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002795","label":"Abnormal respiratory system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006536","label":"Airway obstruction","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:0001678","label":"Atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100759","label":"Clubbing of fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100760","label":"Clubbing of toes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031295","label":"Left atrial enlargement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012398","label":"Peripheral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030718","label":"Right atrial enlargement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001694","label":"Right-to-left shunt","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Occasional (29-5%)","criteria":null}]}}