{"orpha":665058,"name":"Common arterial trunk with pulmonary dominance and interrupted aortic arch","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-665058/","orphanet_url":"https://www.orpha.net/en/disease/detail/665058","names":{"fr":{"name":"Tronc artériel commun à dominance pulmonaire et crosse aortique interrompue"},"de":{"name":"Truncus arteriosus communis mit pulmonaler Dominanz und unterbrochenem Aortenbogen"},"es":{"name":"Tronco arterioso común con predominio pulmonar y arco aórtico interrumpido"},"it":{"name":"Tronco arterioso comune a prevalenza polmonare con interruzione dell’arco aortico"},"nl":{"name":"Truncus arteriosus communis met dominantie van arteria pulmonalis en interruptie van aortaboog"},"pt":{"name":"Tronco arterial comum com dominância pulmonar e interrupção do arco aórtico"},"pl":{"name":"Pień tętniczy wspólny z przewagą tętnicy płucnej i przerwanym łukiem aorty"},"cs":{"name":"Společný arteriální kmen s dominancí plicnice a přerušeným aortálním obloukem"},"uk":{"name":"Загальний артеріальний стовбур з домінуванням легеневої артерії з переривом дуги аорти"}},"xrefs":[{"source":"MONDO","code":"0971108","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4546068","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":3384,"name":"Common arterial trunk","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"GATA6","name":"GATA binding protein 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19666519[PMID]_38351237[PMID]","hgnc":"4174","ensembl":"ENSG00000141448","omim":"601656","loci":["18q11.2"]},{"symbol":"TBX1","name":"T-box transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14585638[PMID]_29509905[PMID]","hgnc":"11592","ensembl":"ENSG00000184058","omim":"602054","loci":["22q11.21"]},{"symbol":"NKX2-6","name":"NK2 homeobox 6","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"15649947[PMID]_25195019[PMID]","hgnc":"32940","ensembl":"ENSG00000180053","omim":"611770","loci":["8p21.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}