{"orpha":860,"name":"Congenitally uncorrected transposition of the great arteries","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Discordant ventriculoarterial connections","Transposition of the great vessels"],"definition":"A rare congenital cardiac malformation characterized by a connection of the morphologically right ventricle to the aorta, and of the morphologically left ventricle to the pulmonary trunk (atrioventricular concordance and ventriculoarterial VA discordance).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-860/","orphanet_url":"https://www.orpha.net/en/disease/detail/860","names":{"fr":{"name":"Transposition congénitalement non corrigée des gros vaisseaux","synonyms":["Connexions ventriculo-artérielles discordantes","Transposition des gros vaisseaux"],"definition":"Malformation cardiaque congénitale rare caractérisée par une connexion entre le ventricule droit morphologique et l'aorte, et entre le ventricule gauche morphologique et le tronc pulmonaire (concordance atrio-ventriculaire et discordance ventriculo-artérielle VA)."},"de":{"name":"Kongenitale unkorrigierte Transposition der großen Arterien","synonyms":["Diskordante ventrikuloarterielle Verbindung","Kongenitale nicht korrigierte Transposition der großen Gefäße"],"definition":"Eine seltene angeborene Fehlbildung, die durch eine Verbindung des morphologisch rechten Ventrikels mit der Aorta und des morphologisch linken Ventrikels mit dem Lungenstamm gekennzeichnet ist (atrioventrikuläre Konkordanz und ventrikuloarterielle VA-Diskordanz)."},"es":{"name":"Transposición de las grandes arterias congénitamente no corregida","synonyms":["Conexiones ventriculoarteriales discordantes","Transposición de los grandes vasos"],"definition":"La transposición de las grandes arterias (TGA), también conocida como transposición completa, es una malformación congénita cardiaca caracterizada por concordancia atrioventricular y discordancia ventriculoarterial (VA)."},"it":{"name":"Trasposizione congenitamente non corretta delle grandi arterie","synonyms":["Connessioni ventricolo-arteriose discordanti","Trasposizione dei grandi vasi"]},"nl":{"name":"Congenitaal ongecorrigeerde transpositie van de grote slagaders","synonyms":["Congenitaal ongecorrigeerde transpositie van de grote arteriën","Discordante ventriculoarteriële verbindingen","Transpositie van de grote vaten"],"definition":"Een zeldzame congenitale hartmalformatie, gekenmerkt door een verbinding tussen het rechterventrikel en de aorta, en tussen het linkerventrikel en de truncus pulmonalis (atrioventriculaire concordantie en ventriculoarteriële (VA) discordantie)."},"pt":{"name":"Transposição das grandes artérias sem correção congénita","synonyms":["Conexões ventriculoarteriais discordantes","Transposição dos grandes vasos"],"definition":"A transposição das grandes artérias (TGA), também denominada como transposição total, é uma malformação cardíaca congénita caracterizada por concordância atrioventricular e discordância ventriculoarterial (VA)."},"pl":{"name":"Wrodzone nieskorygowane przełożenie wielkich pni tętniczych","synonyms":["Ventriculoarterial discordance with atrioventricular concordance","Wrodzone nieskorygowane przełożenie wielkich pni tętniczych"]},"cs":{"name":"Vrozená nekorigovaná transpozice velkých tepen","synonyms":["Izolovaná ventrikuloarteriální diskordance","Ventrikuloarteriální diskordance s atrioventrikulární konkordancí"]},"uk":{"name":"Вроджена некорегована транспозиція великих артерій (магістральних судин)","synonyms":["Вроджена невиправлена транспозиція магістральних судин","Декстро-транспозиція великих артерій","D-транспозиція великих артерій","Ізольована вентрикулоартеріальна дискоординація","Вентрикулоартеріальна дискордантність з атріовентрикулярною конкордантністю"],"definition":"Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance."},"zh":{"name":"先天性非矫正型大动脉转位","synonyms":["心室动脉错位伴房室协调"]},"tr":{"name":"Büyük arterlerin doğumsal hatalı transpozisyonu","synonyms":["Büyük arterlerin D transpozisyonu","İzole ventriküloarteriyel uyumsuzluk","Büyük arterlerin dekstro transpozisyonu","Büyük damarların doğumsal doğru olmayan transpozisyonu","Atriyoventriküler uyumla ventriküloarteriyel uyumsuzluk"]}},"xrefs":[{"source":"OMIM","code":"608808","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613854","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q20.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA85.1","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0019443","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19443","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3531771","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5476","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":271853,"name":"Genetic cardiac anomaly","classifications":[156]},{"orpha":216675,"name":"Transposition of the great arteries","classifications":[147,148]}],"children":[{"orpha":216729,"name":"Congenitally uncorrected transposition of the great arteries with cardiac malformation","type":"Clinical subtype"},{"orpha":99042,"name":"Congenitally uncorrected transposition of the great arteries with coarctation","type":"Clinical subtype"},{"orpha":216718,"name":"Isolated congenitally uncorrected transposition of the great arteries","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CFC1","name":"cryptic, EGF-CFC family member 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11799476[PMID]","hgnc":"18292","ensembl":"ENSG00000136698","omim":"605194","loci":["2q21.1"],"via":{"orpha":99042,"name":"Congenitally uncorrected transposition of the great arteries with coarctation"}},{"symbol":"CFC1","name":"cryptic, EGF-CFC family member 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11799476[PMID]","hgnc":"18292","ensembl":"ENSG00000136698","omim":"605194","loci":["2q21.1"],"via":{"orpha":216718,"name":"Isolated congenitally uncorrected transposition of the great arteries"}},{"symbol":"CFC1","name":"cryptic, EGF-CFC family member 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11799476[PMID]","hgnc":"18292","ensembl":"ENSG00000136698","omim":"605194","loci":["2q21.1"],"via":{"orpha":216729,"name":"Congenitally uncorrected transposition of the great arteries with cardiac malformation"}},{"symbol":"GDF1","name":"growth differentiation factor 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"4214","ensembl":"ENSG00000130283","omim":"602880","loci":["19p13.11"],"via":{"orpha":216718,"name":"Isolated congenitally uncorrected transposition of the great arteries"}},{"symbol":"MED13L","name":"mediator complex subunit 13L","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"22962","ensembl":"ENSG00000123066","omim":"608771","loci":["12q24.21"],"via":{"orpha":216718,"name":"Isolated congenitally uncorrected transposition of the great arteries"}},{"symbol":"ZIC3","name":"Zic family zinc finger 3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23427188[PMID]","hgnc":"12874","ensembl":"ENSG00000156925","omim":"300265","loci":["Xq26.3"],"via":{"orpha":216718,"name":"Isolated congenitally uncorrected transposition of the great arteries"}}],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"Worldwide","status":"Validated","source":"34886679[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":24.25,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-24","source":"27296724[PMID]_18851735[PMID]_24890983[PMID]","terms":[{"hpo":"HP:0011563","label":"Abnormal ventriculoarterial connection","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011028","label":"Abnormality of blood circulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001693","label":"Cardiac shunt","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025074","label":"Abnormal QRS complex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012303","label":"Abnormal aortic arch morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006704","label":"Abnormal coronary artery morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001641","label":"Abnormal pulmonary valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010772","label":"Anomalous pulmonary venous return","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200128","label":"Biventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031348","label":"Dextrotransposition of the great arteries","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032092","label":"Left ventricular outflow tract obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031349","label":"Levotransposition of the great arteries","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001667","label":"Right ventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012304","label":"Hypoplastic aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011611","label":"Interrupted aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011438","label":"Maternal teratogenic exposure","frequency":"Very rare (<4-1%)","criteria":null}]}}