{"orpha":558,"name":"Marfan syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MFS"],"definition":"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-558/","orphanet_url":"https://www.orpha.net/en/disease/detail/558","names":{"fr":{"name":"Syndrome de Marfan","synonyms":["MFS"],"definition":"Le syndrome de Marfan (MFS) est une maladie systémique du tissu conjonctif qui se caractérise par une combinaison variable de manifestations cardiovasculaires, musculo-squelettiques, ophtalmologiques et pulmonaires."},"de":{"name":"Marfan-Syndrom","synonyms":["MFS"],"definition":"Das Marfan-Syndrom ist eine systemische Erkrankung des Bindegewebes mit unterschiedlich kombinierten Symptomen an Herz, Kreislauf, Muskeln, Skelett, Augen und Lunge."},"es":{"name":"Síndrome de Marfan","synonyms":["MFS"],"definition":"El síndrome de Marfan (SM) es una enfermedad sistémica del tejido conectivo, caracterizada por una combinación variable de manifestaciones cardiovasculares, músculo-esqueléticas, oftalmológicas y pulmonares."},"it":{"name":"Sindrome di Marfan","synonyms":["MFS"],"definition":"La sindrome di Marfan è una malattia sistemica del tessuto connettivo caratterizzata dall'associazione variabile di sintomi cardiovascolari, muscolo-scheletrici, oculari e polmonari."},"nl":{"name":"Syndroom van Marfan","synonyms":["MFS"],"definition":"Syndroom van Marfan is een systemische ziekte van bindweefsel, gekarakteriseerd door een variabele combinatie van cardiovasculaire, musculo-skeletale, oftalmische en pulmonale manifestaties."},"pt":{"name":"Síndrome Marfan","definition":"A síndrome Marfan é uma doença sistémica do tecido conjuntivo caracterizada por uma combinação variável de manifestações cardiovasculares, músculo-esqueléticas, oftalmológicas e pulmonares."},"pl":{"name":"Zespół Marfana","synonyms":["MFS"],"definition":"Zespół Marfana to ogólnoustrojowa choroba tkanki łącznej, która charakteryzuje się zmiennym połączeniem objawów dotyczących układu sercowo-naczyniowego, mięśniowo-szkieletowego, narządu wzroku i płuc."},"cs":{"name":"Marfanův syndrom","synonyms":["MFS"]},"uk":{"name":"Синдром Марфана","synonyms":["MFS"],"definition":"Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations."},"zh":{"name":"马方综合征","synonyms":["MFS"]},"tr":{"name":"Marfan sendromu","synonyms":["MFS"]}},"xrefs":[{"source":"OMIM","code":"154700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610168","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD28.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"236564145"},{"source":"MONDO","code":"0007947","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008382","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0024796","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10026829","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]},{"orpha":285014,"name":"Rare disease with thoracic aortic aneurysm and aortic dissection","classifications":[156,186,198]},{"orpha":519292,"name":"Syndromic ectopia lentis","classifications":[147,189]},{"orpha":522554,"name":"Syndromic genetic ectopia lentis","classifications":[156]},{"orpha":522564,"name":"Syndromic genetic keratoconus","classifications":[156]},{"orpha":98623,"name":"Syndromic keratoconus","classifications":[189]}],"children":[{"orpha":284963,"name":"Marfan syndrome type 1","type":"Clinical subtype"},{"orpha":284973,"name":"Marfan syndrome type 2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"FBN1","name":"fibrillin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3603","ensembl":"ENSG00000166147","omim":"134797","loci":["15q21.1"],"via":{"orpha":284963,"name":"Marfan syndrome type 1"}},{"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":"16799921[PMID]_18781618[PMID]_","hgnc":"11772","ensembl":"ENSG00000106799","omim":"190181","loci":["9q22.33"],"via":{"orpha":284973,"name":"Marfan syndrome type 2"}},{"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":null,"hgnc":"11773","ensembl":"ENSG00000163513","omim":"190182","loci":["3p24.1"],"via":{"orpha":284973,"name":"Marfan syndrome type 2"}}],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"Europe","status":"Not yet validated","source":"16325700[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":15.0,"area":"Worldwide","status":"Not yet validated","source":"20301510[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.2,"area":"United Kingdom","status":"Validated","source":"8151638[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.0,"area":"United Kingdom","status":"Validated","source":"8151638[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"United States","status":"Validated","source":"3788757[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-20","source":"30726024[PMID]_30573797[PMID]_26621648[PMID]_25323262[PMID]","terms":[{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012432","label":"Chronic fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent 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(79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003179","label":"Protrusio acetabuli","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001704","label":"Tricuspid valve prolapse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent 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