{"orpha":60030,"name":"Loeys-Dietz syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Aortic aneurysm syndrome due to TGF-beta receptors anomalies"],"definition":"Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-60030/","orphanet_url":"https://www.orpha.net/en/disease/detail/60030","names":{"fr":{"name":"Syndrome de Loeys-Dietz","definition":"Maladie génétique rare du tissu conjonctif caractérisée par un large spectre de manifestations craniofaciales, vasculaires et squelettiques. Quatre sous-types génétiques ont été décrits formant un continuum clinique."},"de":{"name":"Loeys-Dietz-Syndrom","synonyms":["Aortenaneurysma-Syndrom durch TGFbeta-Rezeptor-Anomalien"],"definition":"Das Loeys-Dietz-Syndrom ist eine seltene genetische Bindegewebserkrankung, die durch ein breites Spektrum von kraniofazialen, vaskulären und skelettalen Manifestationen gekennzeichnet ist. Es wurden vier genetischen Subtypen beschrieben, die ein klinisches Kontinuum bilden."},"es":{"name":"Síndrome de Loeys-Dietz","synonyms":["Síndrome de aneurisma aórtico por anomalías en los receptores del TGF-beta"],"definition":"Es un trastorno genético del tejido conjuntivo poco frecuente caracterizado por un amplio espectro de manifestaciones craneofaciales, vasculares y esqueléticas. Se han descrito cuatro subtipos genéticos que forman un continuo clínico."},"it":{"name":"Sindrome di Loeys-Dietz","synonyms":["Sindrome dell'aneurisma aortico da anomalie dei recettori TGF-beta"],"definition":"La sindrome di Loeys-Dietz è una malattia genetica rara del tessuto connettivo. È caratterizzata da un ampio spettro di segni clinici craniofacciali, vascolari e scheletrici. Sono stati descritti quattro sottotipi genetici della malattia, che costituiscono un continuum clinico."},"nl":{"name":"Syndroom van Loeys-Dietz","synonyms":["Syndroom van aneurysma van aorta door anomalieën van TGF-bèta-receptoren"],"definition":"Syndroom van Loeys-Dietz is een zeldzame, genetische bindweefselstoornis die gekarakteriseerd wordt door een breed spectrum van craniofaciale, vasculaire en skeletale manifestaties, en waarvan vier genetische subtypes werden beschreven die een klinisch continuüm vormen."},"pt":{"name":"Síndrome Loyes-Dietz","synonyms":["Síndrome aneurisma aórtico por anomalia nos recetores beta do TGF"]},"pl":{"name":"Zespół Loeysa i Dietza","synonyms":["Zespół tętniaka aorty spowodowany anomaliami receptorów TGF-beta"]},"cs":{"name":"Loeysův-Dietzův syndrom","synonyms":["Syndrom aortálního aneuryzmatu způsobeného anomáliemi receptorů pro TGF-beta","Loeys-Dietzův syndrom"]},"uk":{"name":"Синдром Лойса-Діца","synonyms":["Синдром аневризми аорти через аномалії рецепторів TGF-бета"],"definition":"Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum."},"zh":{"name":"洛伊-迪茨综合征","synonyms":["TGF-β受体异常型主动脉瘤综合征"]},"tr":{"name":"Loeys-Dietz sendromu","synonyms":["TGF-beta reseptör anomalilerine bağlı aort anevrizma sendromu"]}},"xrefs":[{"source":"OMIM","code":"609192","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610168","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613795","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614816","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615582","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619472","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619656","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BD50.Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"999490064"},{"source":"MONDO","code":"0018954","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D055947","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2697932","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10788","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081284","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":97295,"name":"Furlong syndrome","status":"inactive"}],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":284993,"name":"Marfan syndrome and Marfan-related disorders","classifications":[156,196]},{"orpha":498448,"name":"Overgrowth or tall stature syndrome with skeletal involvement","classifications":[147,156,199]},{"orpha":285014,"name":"Rare disease with thoracic aortic aneurysm and aortic dissection","classifications":[156,186,198]},{"orpha":717871,"name":"Rare systemic or rheumatologic disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"IPO8","name":"importin 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34010605[PMID]","hgnc":"9853","ensembl":"ENSG00000133704","omim":"605600","loci":["12p11.21"]},{"symbol":"SMAD2","name":"SMAD family member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29392890[PMID]_31000321[PMID]","hgnc":"6768","ensembl":"ENSG00000175387","omim":"601366","loci":["18q21.1"]},{"symbol":"SMAD3","name":"SMAD family member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32935439[PMID]_29392890[PMID]_31000321[PMID]","hgnc":"6769","ensembl":"ENSG00000166949","omim":"603109","loci":["15q22.33"]},{"symbol":"TGFB2","name":"transforming growth factor beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24440784[PMID]_25163805[PMID]_28544325[PMID]","hgnc":"11768","ensembl":"ENSG00000092969","omim":"190220","loci":["1q41"]},{"symbol":"TGFB3","name":"transforming growth factor beta 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26184463[PMID]_29392890[PMID]","hgnc":"11769","ensembl":"ENSG00000119699","omim":"190230","loci":["14q24.3"]},{"symbol":"TGFBR1","name":"transforming growth factor beta receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15731757[PMID]_16928994[PMID]","hgnc":"11772","ensembl":"ENSG00000106799","omim":"190181","loci":["9q22.33"]},{"symbol":"TGFBR2","name":"transforming growth factor beta receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15731757[PMID]_16928994[PMID]","hgnc":"11773","ensembl":"ENSG00000163513","omim":"190182","loci":["3p24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal 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(79-30%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001695","label":"Cardiac arrest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410151","label":"Eosinophilic infiltration of the esophagus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional 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