{"orpha":99067,"name":"Complete atrioventricular septal defect with ventricular hypoplasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CAVC with ventricular hypoplasia","Complete AVSD with ventricular hypoplasia","Complete atrioventricular canal defect with ventricular hypoplasia","Complete atrioventricular septal defect with ventricular imbalance","Unbalanced complete atrioventricular canal"],"definition":null,"note":"This disease is described under Complete atrioventricular septal defect","url":"https://raremap.alftech.space/d/ORPHA-99067/","orphanet_url":"https://www.orpha.net/en/disease/detail/99067","names":{"fr":{"name":"Canal atrioventriculaire complet avec hypoplasie ventriculaire","synonyms":["CAVC avec hypoplasie ventriculaire","Communication atrioventriculaire complète avec hypoplasie ventriculaire","Communication atrioventriculaire complète déséquilibrée","Communication auriculo-ventriculaire complète avec hypoplasie ventriculaire","Communication auriculo-ventriculaire complète déséquilibrée","Défaut complet du septum atrioventriculaire avec hypoplasie ventriculaire","Défaut septal atrioventriculaire complet avec hypoplasie ventriculaire","Défaut septal atrioventriculaire complet déséquilibré","Défaut septal auriculo-ventriculaire complet avec hypoplasie ventriculaire"]},"de":{"name":"Kompletter atrioventrikulärer Kanal mit Ventrikelhypoplasie","synonyms":["CAVC-Ventrikelhypoplasie-Syndrom","Kompletter AV-Kanal-Defekt mit ventrikulärer Hypoplasie","Kompletter atrioventrikulärer Septumdefekt mit ventrikulärer Imbalance","Unbalancierte Form des atrioventrikulären Kanals"]},"es":{"name":"Ventrículo único con defecto del septo auriculoventricular completo","synonyms":["Canal aurículoventricular completo con disbalance ventricular","Canal aurículoventricular completo disbalanceado","Ventrículo único con CAVC","Ventrículo único con DSAV completo","Ventrículo único con canal auriculoventricular completo"]},"it":{"name":"CAVC - ipoplasia ventricolare"},"nl":{"name":"Compleet atrioventriculair septumdefect met ventrikelhypoplasie","synonyms":["CAVC met ventrikelhypoplasie","Compleet AVSD met ventrikelhypoplasie","Compleet atrioventriculair septumdefect met ongebalanceerd ventrikel","Compleet defect van atrioventriculair kanaal met ventrikelhypoplasie","Ongebalanceerd compleet atrioventriculair kanaal"]},"pt":{"name":"Canal auriculoventricular completo com hipoplasia ventricular"},"pl":{"name":"Całkowity kanał przedsionkowo-komorowy - hipoplazja komory","synonyms":["Całkowity kanał przedsionkowo-komorowy typu B","CAVC - hipoplazja komory","CAVC type B"]},"cs":{"name":"Syndrom kompletního AV kanálu s hypoplázií komory","synonyms":["CAVC typ B","Syndrom zahrnující CAVC a hypoplázii komory","Kompletní atrioventrikulární kanál, typ B"]},"uk":{"name":"Повна атріовентрикулярна комунікація з гіпоплазією шлуночків","synonyms":["CAVC з гіпоплазією шлуночків","Повна вада атріовентрикулярного каналу з гіпоплазією шлуночків","Повний дефект атріовентрикулярної перегородки з дисбалансом шлуночків","Повна AVSD з гіпоплазією шлуночків","Незбалансований повний атріовентрикулярний канал"]},"zh":{"name":"完全性房室间隔缺损伴心室发育不良","synonyms":["完全性房室间隔缺损伴心室失衡"]},"tr":{"name":"Ventriküler hipoplazi ile seyreden tam atriyoventriküler septal defekt","synonyms":["Ventriküler hipoplazili CAVC","Ventriküler hipoplazili tam AVSD","Dengeli olmayan tam atriyoventriküler kanal","Ventriküler hipoplazili tam atriyoventriküler kanal defekti","Ventriküler dengesizlik ile seyreden tam atriyoventriküler septal defekt"]}},"xrefs":[{"source":"OMIM","code":"615779","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q21.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020407","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680290","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1329,"name":"Complete 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) in","status":"Assessed","source":"18672102[PMID]_17643447[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":"20581743[PMID]","hgnc":"4174","ensembl":"ENSG00000141448","omim":"601656","loci":["18q11.2"]},{"symbol":"CRELD1","name":"CRELD disulfide isomerase 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"12632326[PMID]_15096951[PMID]","hgnc":"14630","ensembl":"ENSG00000163703","omim":"607170","loci":["3p25.3"]},{"symbol":"NR2F2","name":"nuclear receptor subfamily 2 group F member 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24702954[PMID]","hgnc":"7976","ensembl":"ENSG00000185551","omim":"107773","loci":["15q26.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}