{"orpha":3303,"name":"Tetralogy of Fallot","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3303/","orphanet_url":"https://www.orpha.net/en/disease/detail/3303","names":{"fr":{"name":"Tétralogie de Fallot","definition":"La tétralogie de Fallot est une malformation cardiaque congénitale caractérisée par une communication interventriculaire, une obstruction de la voie de sortie du ventricule droit, une racine aortique « à cheval » sur le septum interventriculaire, et une hypertrophie ventriculaire droite."},"de":{"name":"Fallot-Tetralogie","synonyms":["Fallotsche Tetralogie"]},"es":{"name":"Tetralogía de Fallot","definition":"Es una malformación cardiaca congénita que consiste en la presencia de una comunicación interventricular, una obstrucción del tracto de salida del ventrículo derecho, un acabalgamiento del septo ventricular por la raíz aórtica y una hipertrofia del ventrículo derecho."},"it":{"name":"Tetralogia di Fallot"},"nl":{"name":"Tetralogie van Fallot","definition":"Tetralogie van Fallot is een congenitale hartmalformatie, bestaande uit interventriculaire communicatie, ook gekend als ventrikelseptumdefect, obstructie van uitstroombaan van rechterventrikel, opheffing van ventrikelseptum door de aortawortel (overrijdende aorta), en hypertrofie van rechterventrikel."},"pt":{"name":"Tetralogia de Fallot"},"pl":{"name":"Tetralogia Fallota"},"cs":{"name":"Fallotova tetralogie"},"uk":{"name":"Тетрада Фалло","definition":"Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy."},"zh":{"name":"法洛四联症"},"tr":{"name":"Fallot tetralojisi"}},"xrefs":[{"source":"OMIM","code":"187500","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"617912","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618780","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q21.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA88.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"90973426"},{"source":"MONDO","code":"0008542","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013771","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0039685","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2245","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10016193","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2445,"name":"Conotruncal heart malformations","classifications":[147,148]}],"children":[],"genes":[{"symbol":"NKX2-5","name":"NK2 homeobox 5","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Assessed","source":"29045289[PMID]","hgnc":"2488","ensembl":"ENSG00000183072","omim":"600584","loci":["5q35.1"]},{"symbol":"TBX1","name":"T-box transcription factor 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20937753[PMID]","hgnc":"11592","ensembl":"ENSG00000184058","omim":"602054","loci":["22q11.21"]},{"symbol":"FLT4","name":"fms related receptor tyrosine kinase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30232381[PMID]","hgnc":"3767","ensembl":"ENSG00000037280","omim":"136352","loci":["5q35.3"]},{"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":"24000169[PMID]","hgnc":"4173","ensembl":"ENSG00000136574","omim":"600576","loci":["8p23.1"]},{"symbol":"GATA5","name":"GATA binding protein 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23289003[PMID]","hgnc":"15802","ensembl":"ENSG00000130700","omim":"611496","loci":["20q13.33"]},{"symbol":"JAG1","name":"jagged canonical Notch ligand 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21893051[PMID]","hgnc":"6188","ensembl":"ENSG00000101384","omim":"601920","loci":["20p12.2"]},{"symbol":"CITED2","name":"Cbp/p300 interacting transactivator with ED-rich tail 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"1987","ensembl":"ENSG00000164442","omim":"602937","loci":["6q24.1"]},{"symbol":"GATA6","name":"GATA binding protein 6","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":"20581743[PMID]","hgnc":"4174","ensembl":"ENSG00000141448","omim":"601656","loci":["18q11.2"]},{"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"]},{"symbol":"GJA5","name":"gap junction protein alpha 5","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22713807[PMID]","hgnc":"4279","ensembl":"ENSG00000265107","omim":"121013","loci":["1q21.2"]},{"symbol":"KDR","name":"kinase insert domain receptor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"34113005[PMID]","hgnc":"6307","ensembl":"ENSG00000128052","omim":"191306","loci":["4q12"]},{"symbol":"NKX2-6","name":"NK2 homeobox 6","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"25195019[PMID]","hgnc":"32940","ensembl":"ENSG00000180053","omim":"611770","loci":["8p21.2"]},{"symbol":"ZFPM2","name":"zinc finger protein, FOG family member 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24702427[PMID]_14517948[PMID]","hgnc":"16700","ensembl":"ENSG00000169946","omim":"603693","loci":["8q23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Multigenic/multifactorial"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":34.0,"area":"Worldwide","status":"Validated","source":"22078432[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":29.3,"area":"Europe","status":"Validated","source":"[EXPERT]_EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":39.3,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":40.8,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.4,"area":"Croatia","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":39.7,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":13.8,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.9,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":34.3,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.5,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":26.8,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":48.2,"area":"Malta","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":29.2,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":31.1,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.2,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":23.7,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":63.0,"area":"Taiwan, Province of China","status":"Validated","source":"20138303[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.9,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":25.1,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":32.0,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":25.4,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":47.0,"area":"United States","status":"Validated","source":"18657826[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":40.0,"area":"China","status":"Validated","source":"23350618[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005105","label":"Abnormal nasal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null}]}}