{"orpha":91387,"name":"Familial thoracic aortic aneurysm and aortic dissection","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FTAAD","Familial TAAD","Familial non-syndromic thoracic aortic aneurysm and aortic dissection","Hereditary TAAD","Hereditary thoracic aortic aneurysm and aortic dissection","Non-syndromic heritable thoracic aortic disease"],"definition":"Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91387/","orphanet_url":"https://www.orpha.net/en/disease/detail/91387","names":{"fr":{"name":"Anévrisme familial de l'aorte thoracique et dissection aortique","synonyms":["Anévrisme familial de l'aorte thoracique et dissection aortique, forme non syndromique","Anévrisme héréditaire de l'aorte thoracique et dissection aortique","Maladie héréditaire non syndromique de l'aorte thoracique","TAAD familial"],"definition":"Une maladie génétique vasculaire rare caractérisée par l'occurrence familiale d'un anévrisme, d'une dissection ou d'une dilatation de l'aorte thoracique affectant un ou plusieurs segment(s) aortique(s) (racine aortique, aorte ascendante, arc aortique ou aorte descendante), sans autre maladie associée. En fonction de la taille, de la localisation et du taux de progression de la dilatation/dissection, les patients peuvent être asymptomatiques ou présenter une dyspnée, une toux, une douleur à la mâchoire, au cou, au thorax ou au dos, un oedème au niveau de la tête, du cou ou des membres supérieurs, des difficultés pour déglutir, une voix enrouée, une peau pâle, un pouls faible, et/ou un engourdissement/des fourmillements au niveau des membres. Le risque de rupture aortique mettant en jeu le pronostic vital est accru."},"de":{"name":"Familiäres thorakales Aortenaneurysma und Aortendissektion","synonyms":["FTAAD","Familiäre TAAD","Familiäres nicht-syndromales thorakales Aortenaneurysma und Aortendissektion","Hereditäres TAAD","Hereditäres thorakales Aortenaneurysma und Aortendissektion","Nicht-syndromale hereditäre thorakale Aortenkrankheit"],"definition":"Eine seltene genetische Gefäßerkrankung, die durch das familiäre Auftreten eines thorakalen Aortenaneurysmas, einer Dissektion oder einer Dilatation gekennzeichnet ist, die ein oder mehrere Aortensegmente (Aortenwurzel, aufsteigende Aorta, Aortenbogen oder absteigende Aorta) in Abwesenheit einer anderen assoziierten Erkrankung betrifft. Je nach Größe, Lokalisation und Progressionsrate der Dilatation/Dissektion können die Patienten asymptomatisch sein oder Dyspnoe, Husten, Kiefer-, Nacken-, Brust- oder Rückenschmerzen, Kopf-, Nacken- oder Oberschenkelödeme, Schluckbeschwerden, Heiserkeit der Stimme, blasse Haut, schwacher Puls und/oder Taubheit/Kribbeln in den Gliedmaßen aufweisen. Die Patienten haben ein erhöhtes Risiko, eine lebensbedrohliche Aortenruptur zu erleiden."},"es":{"name":"Aneurisma aórtico torácico y disección aórtica familiar","synonyms":["Aneurisma aórtico torácico y disección aórtica familiar no sindrómico","Aneurisma aórtico torácico y disección aórtica hereditarios","Enfermedad aórtica torácica hereditaria no sindrómica","TAAD familiar","TAAD hereditaria"],"definition":"El aneurisma y disección aórtica torácica familiar es una enfermedad vascular genética poco frecuente, que se caracteriza por la recurrencia familiar de aneurisma aórtico torácico, disección o dilatación, que afecta a uno o más segmentos aórticos (raíz aórtica, aorta ascendente, arco o aorta descendente) en ausencia de cualquier otra enfermedad asociada. Dependiendo del tamaño, la ubicación y la tasa de progresión de la dilatación/disección, los afectados pueden ser asintomáticos o presentar disnea, tos; dolor en la mandíbula, cuello, tórax o espalda; edema de cabeza, cuello o extremidades superiores; dificultad para tragar, ronquera, piel pálida, pulso débil y/o entumecimiento/hormigueo en las extremidades. Los afectados tienen mayor riesgo de presentar una rotura aórtica potencialmente mortal."},"it":{"name":"Aneurisma familiare dell'aorta toracica e dissecazione dell'aorta","synonyms":["TAAD ereditaria","Aneurisma ereditario dell'aorta toracica e dissezione dell'aorta","FTAAD","Malattia ereditaria non sindromica dell'aorta toracica","TAAD familiare","Aneurisma dell’aorta toracica e dissecazione familiare non sindromica dell’aorta","Aneurisma familiare non sindromico dell'aorta toracica e dissezione dell'aorta"],"definition":"L'aneurisma familiare dell'aorta toracica e la dissecazione dell'aorta è una malattia rara vascolare, di origine genetica, caratterizzata dalla ricorrenza familiare di aneurismi dell'aorta toracica, dissecazione o dilatazione di uno o più segmenti dell'aorta (radice aortica, aorta ascendente, arco o aorta discendente), in assenza di altre patologie. A seconda delle dimensioni, della localizzazione e della progressione della dilatazione/dissecazione, i pazienti possono essere asintomatici oppure presentare dispnea, tosse, dolore alle mascelle, al collo, al torace e alla schiena, edema della testa, del collo o degli arti superiori, difficoltà nella deglutizione, raucedine, pallore, polso debole e/o insensibilità/formicolio agli arti. I pazienti sono a rischio di rottura, potenzialmente letale, dell'aorta."},"nl":{"name":"Familiaal aneurysma van aorta thoracica en aortadissectie","synonyms":["Erfelijk aneurysma van thoracale aorta en aortadissectie","FTAAD","Familiaal TAAD","Familiaal aneurysma van thoracale aorta en aortadissectie","Familiaal niet-syndromaal aneurysma van aorta thoracica en aortadissectie","Hereditair TAAD","Hereditair aneurysma van aorta thoracica en aortadissectie","Niet-syndromale erfelijke aandoening van aorta thoracica"],"definition":"Familiaal thoracaal aorta-aneurysma en -dissectie is een zeldzame, genetische vasculaire ziekte die gekarakteriseerd wordt door het familiaal voorkomen van thoracaal aorta-aneurysma, -dissectie of -dilatatie van een of meer segmenten van de aorta (aortawortel, stijgende aorta, aortaboog of dalende aorta) in afwezigheid van enige andere geassocieerde ziekte. Afhankelijk van de omvang, locatie en progressiesnelheid van de dilatatie/dissectie, kunnen patiënten asymptomatisch zijn of dyspneu, hoest, pijn aan de kaak, de nek of de rug, oedeem in het hoofd, de nek of de bovenste ledematen, moeilijkheden met slikken, heesheid van de stem, een bleke huid, zwakke hartslag en/of gevoelloosheid/tintelingen in de ledematen vertonen. Patiënten lopen een verhoogd risico op levensbedreigende slagaderbreuk."},"pt":{"name":"Aneurisma da aorta torácica e disseção aórtica familiar","synonyms":["TAAD","TAAD hereditária","Aneurisma da aorta torácica e dissecção da aorta hereditário","Aneurisma da aorta torácica e disseção aórtica familiar não sindrómica","TAAD familiar","Doença não sindrómica da aorta torácica hereditária"]},"pl":{"name":"Rodzinny tętniak aorty piersiowej i rozwarstwienie aorty","synonyms":["Rodzinny TAAD"]},"cs":{"name":"Familiární aneuryzma hrudní aorty s disekcí aorty","synonyms":["Familiární TAAD"]},"uk":{"name":"Сімейна аневризма грудного відділу аорти та розшарування аорти","synonyms":["Сімейна несиндромна аневризма грудного відділу аорти та розшарування аорти","Сімейний TAAD"],"definition":"Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture."},"zh":{"name":"家族性胸主动脉瘤和主动脉夹层","synonyms":["家族性TAAD"]},"tr":{"name":"ailesel torasik aort anevrizması ve aort diseksiyonu","synonyms":["Ailesel TAAD"]}},"xrefs":[{"source":"OMIM","code":"132900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607086","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607087","qualifier":"BTNT","icd_relation":null,"validated":true},{"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":"611788","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613780","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614816","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615436","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615582","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616166","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617168","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619656","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619657","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619825","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1745551109"},{"source":"MONDO","code":"0019625","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707243","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2249","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":88636,"name":"Aortic dilatation-joint hypermobility-arterial tortuosity syndrome","status":"inactive"},{"type":"Referred to","orpha":95484,"name":"OBSOLETE: Aneurysm or dilatation of ascending aorta","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":284993,"name":"Marfan syndrome and Marfan-related disorders","classifications":[156,196]},{"orpha":285014,"name":"Rare disease with thoracic aortic aneurysm and aortic dissection","classifications":[156,186,198]}],"children":[],"genes":[{"symbol":"ELN","name":"elastin","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"24932728[PMID]","hgnc":"3327","ensembl":"ENSG00000049540","omim":"130160","loci":["7q11.23"]},{"symbol":"MAT2A","name":"methionine adenosyltransferase 2A","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Assessed","source":"25557781[PMID]","hgnc":"6904","ensembl":"ENSG00000168906","omim":"601468","loci":["2p11.2"]},{"symbol":"PRKG1","name":"protein kinase cGMP-dependent 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23910461[PMID]","hgnc":"9414","ensembl":"ENSG00000185532","omim":"176894","loci":["10q11.23-q21.1"]},{"symbol":"HEY2","name":"hes related family bHLH transcription factor with YRPW motif 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"32820247[PMID]","hgnc":"4881","ensembl":"ENSG00000135547","omim":"604674","loci":["6q22.31"]},{"symbol":"LOX","name":"lysyl oxidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26838787[PMID]_27432961[PMID]","hgnc":"6664","ensembl":"ENSG00000113083","omim":"153455","loci":["5q23.1"]},{"symbol":"MFAP5","name":"microfibril associated protein 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25434006[PMID]","hgnc":"29673","ensembl":"ENSG00000197614","omim":"601103","loci":["12p13.31"]},{"symbol":"SMAD2","name":"SMAD family member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29967133[PMID]","hgnc":"6768","ensembl":"ENSG00000175387","omim":"601366","loci":["18q21.1"]},{"symbol":"TGFB3","name":"transforming growth factor beta 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23824657[PMID]_25835445[PMID]","hgnc":"11769","ensembl":"ENSG00000119699","omim":"190230","loci":["14q24.3"]},{"symbol":"ACTA2","name":"actin alpha 2, smooth muscle","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301299[PMID]","hgnc":"130","ensembl":"ENSG00000107796","omim":"102620","loci":["10q23.31"]},{"symbol":"EFEMP2","name":"EGF-like fibulin extracellular matrix protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22440127[PMID]","hgnc":"3219","ensembl":"ENSG00000172638","omim":"604633","loci":["11q13.1"]},{"symbol":"FBN1","name":"fibrillin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301299[PMID]","hgnc":"3603","ensembl":"ENSG00000166147","omim":"134797","loci":["15q21.1"]},{"symbol":"FOXE3","name":"forkhead box E3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26854927[PMID]","hgnc":"3808","ensembl":"ENSG00000186790","omim":"601094","loci":["1p33"]},{"symbol":"MYH11","name":"myosin heavy chain 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301299[PMID]","hgnc":"7569","ensembl":"ENSG00000133392","omim":"160745","loci":["16p13.11"]},{"symbol":"MYLK","name":"myosin light chain kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301299[PMID]","hgnc":"7590","ensembl":"ENSG00000065534","omim":"600922","loci":["3q21.1"]},{"symbol":"SMAD3","name":"SMAD family member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301299[PMID]","hgnc":"6769","ensembl":"ENSG00000166949","omim":"603109","loci":["15q22.33"]},{"symbol":"SMAD4","name":"SMAD family member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30809044[PMID]","hgnc":"6770","ensembl":"ENSG00000141646","omim":"600993","loci":["18q21.2"]},{"symbol":"TGFB2","name":"transforming growth factor beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22772371[PMID]","hgnc":"11768","ensembl":"ENSG00000092969","omim":"190220","loci":["1q41"]},{"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":"20301299[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":"20301299[PMID]","hgnc":"11773","ensembl":"ENSG00000163513","omim":"190182","loci":["3p24.1"]},{"symbol":"THSD4","name":"thrombospondin type 1 domain containing 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32855533[PMID]","hgnc":"25835","ensembl":"ENSG00000187720","omim":"614476","loci":["15q23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-05-11","source":"20301299[PMID]_19409525[PMID]_17994018[PMID]_16996941[PMID]_24243736[PMID]_21055718[PMID]_17666408[PMID]","terms":[{"hpo":"HP:0003549","label":"Abnormality of connective tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200146","label":"Cystic medial necrosis of the aorta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005162","label":"Abnormal left ventricular function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000525","label":"Abnormality iris morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004933","label":"Ascending aortic dissection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012499","label":"Descending aortic dissection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012763","label":"Paroxysmal dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005112","label":"Abdominal aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002647","label":"Aortic dissection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012163","label":"Carotid artery dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004959","label":"Descending thoracic aorta aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100775","label":"Dural ectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011106","label":"Hypovolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002140","label":"Ischemic stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004950","label":"Peripheral arterial stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002107","label":"Pneumothorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002686","label":"Prenatal maternal abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002138","label":"Subarachnoid hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Occasional (29-5%)","criteria":null}]}}