{"orpha":576232,"name":"Partial atrioventricular septal defect with ventricular hypoplasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Partial atrioventricular canal defect with ventricular hypoplasia","Partial atrioventricular septal defect with ventricular imbalance","Unbalanced partial atrioventricular canal","PAVC with ventricular hypoplasia","Partial AVSD with ventricular hypoplasia"],"definition":null,"note":"This disease is described under Partial atrioventricular septal defect","url":"https://raremap.alftech.space/d/ORPHA-576232/","orphanet_url":"https://www.orpha.net/en/disease/detail/576232","names":{"fr":{"name":"Canal atrioventriculaire partiel avec hypoplasie ventriculaire","synonyms":["CAV partiel avec hypoplasie ventriculaire","Communication atrioventriculaire partielle avec hypoplasie ventriculaire","Communication atrioventriculaire partielle déséquilibrée","Communication auriculo-ventriculaire partielle avec hypoplasie ventriculaire","Communication auriculo-ventriculaire partielle déséquilibrée","Défaut septal atrioventriculaire partiel avec hypoplasie ventriculaire","Défaut septal atrioventriculaire partiel déséquilibré","Défaut septal auriculo-ventriculaire partiel avec hypoplasie ventriculaire","PAVC avec hypoplasie ventriculaire"]},"de":{"name":"Partieller atrioventrikulärer Septumdefekt mit ventrikulärer Hypoplasie"},"es":{"name":"Comunicación auriculoventricular parcial con hipoplasia ventricular","synonyms":["Defecto septal auriculoventricular parcial con hipoplasia ventricular"]},"it":{"name":"Difetto parziale del setto atrioventricolare con ipoplasia ventricolare","synonyms":["AVSD parziale con ipoplasia ventricolare","Canale atrioventricolare parziale con ipoplasia ventricolare","Canale atrioventricolare parziale sbilanciato","Difetto parziale del setto atrioventricolare con ventricoli sbilanciati","PAVC con ipoplasia ventricolare"]},"nl":{"name":"Partieel atrioventriculair septumdefect met ventrikelhypoplasie"},"pt":{"name":"Defeito septal auriculoventricular parcial com hipoplasia ventricular"},"pl":{"name":"Częściowy ubytek przegrody przedsionkowo-komorowej z hipoplazją komór","synonyms":["Częściowy AVSD z hipoplazją komór"]},"cs":{"name":"Částečný atrioventrikulární septální defekt s ventrikulární hypoplázií","synonyms":["Partial atrioventricular canal defect with ventricular hypoplasia","Partial atrioventricular septal defect with ventricular imbalance","Unbalanced partial atrioventricular canal","PAVC with ventricular hypoplasia","Partial AVSD with ventricular hypoplasia"]},"uk":{"name":"Часткова атріовентрикулярна комунікація з гіпоплазією шлуночків","synonyms":["Частковий дефект атріовентрикулярного каналу з гіпоплазією шлуночків","Частковий дефект атріовентрикулярної перегородки з дисбалансом шлуночків","Часткова AVSD з гіпоплазією шлуночків","PAVC з гіпоплазією шлуночків","Незбалансований частковий атріовентрикулярний канал"]},"zh":{"name":"部分房室间隔缺损伴有心室发育不良","synonyms":["不平衡型部分型房室管"]},"tr":{"name":"Ventriküler hipoplazi ile seyreden kısmi atriyoventriküler septal defekt","synonyms":["Ventriküler hipoplazili ile seyreden kısmi atriyoventriküler kanal defekti","Ventriküler dengesizli ile seyreden kısmi atriyoventriküler septal defekt","Ventriküler hipoplazi ile seyreden PAVC","Ventriküler hipoplazi ile seyreden kısmi AVSD","Dengesiz kısmi atriyoventriküler kanal"]}},"xrefs":[{"source":"ICD-10","code":"Q21.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5680351","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1330,"name":"Partial atrioventricular septal defect","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"GATA4","name":"GATA binding protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17643447[PMID]","hgnc":"4173","ensembl":"ENSG00000136574","omim":"600576","loci":["8p23.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}