{"orpha":3342,"name":"Arterial tortuosity syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ATS"],"definition":"A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3342/","orphanet_url":"https://www.orpha.net/en/disease/detail/3342","names":{"fr":{"name":"Syndrome de tortuosité artérielle","synonyms":["ATS","Syndrome de flexuosité artérielle"],"definition":"Maladie rare du tissu conjonctif à transmission autosomique récessive caractérisée par une tortuosité et une élongation des artères de gros et moyen calibre et une tendance à la formation d'un anévrisme, à la dissection vasculaire, et à la sténose des artères pulmonaires."},"de":{"name":"Arterial-Tortuosity-Syndrom","synonyms":["ATS","Arterien, geschlängelte"],"definition":"Eine seltene autosomal-rezessive Bindegewebserkrankung mit geschlängelt verlaufenden und verlängerten großen und mittelgroßen Arterien, die zur Bildung von Aneurysmen und Dissektionen neigen. Stenosen der Pulmonalarterien sind ein weiteres Kennzeichen."},"es":{"name":"Síndrome de tortuosidad arterial","synonyms":["ATS"],"definition":"Es un trastorno del tejido conectivo, autosómico recesivo y poco frecuente, caracterizado por tortuosidad y elongación de las arterias de mediano y gran tamaño, así como una predisposición a la formación de aneurismas, disección arterial y estenosis de las arterias pulmonares."},"it":{"name":"Sindrome da tortuosità delle arterie","synonyms":["ATS"],"definition":"Si tratta di una malattia rara autosomica recessiva del tessuto connettivo, caratterizzata da tortuosità e allungamento delle arterie di medie e grandi dimensioni, e dalla predisposizione agli aneurismi, alla dissecazione vascolare e alla stenosi delle arterie polmonari."},"nl":{"name":"Arteriële tortuositeitsyndroom","synonyms":["ATS"],"definition":"Een zeldzame, autosomaal recessieve aandoening van bindweefsel, gekarakteriseerd door tortuositeit en elongatie van grote en middelgrote arteriën en een aanleg voor vorming van aneurysmata, vasculaire dissectie, en stenose van arteria pulmonalis."},"pt":{"name":"Síndrome de tortuosidade arterial","synonyms":["ATS"],"definition":"A síndrome de tortuosidade arterial (ATS) é uma doença rara do tecido conjuntivo, caracterizada por tortuosidade e alongamento das artérias de calibre médio e grande e uma propensão para a formação de aneurismas, dissecção vascular, e estenose das artérias pulmonares."},"pl":{"name":"Zespół krętości tętnic","synonyms":["ATS"]},"cs":{"name":"Syndrom arteriální tortuozity","synonyms":["ATS"]},"uk":{"name":"Синдром звивистості артерій","synonyms":["ATS"],"definition":"A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries."},"zh":{"name":"动脉迂曲综合征","synonyms":["ATS"]},"tr":{"name":"Arteriyel kıvrılma sendromu","synonyms":["ATS"]}},"xrefs":[{"source":"OMIM","code":"208050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q27.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"371764699"},{"source":"MONDO","code":"0008818","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565942","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859726","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"774","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080250","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98028,"name":"Rare circulatory system disease"},"parents":[{"orpha":209,"name":"Cutis laxa","classifications":[147,156,182,186,187]},{"orpha":285014,"name":"Rare disease with thoracic aortic aneurysm and aortic dissection","classifications":[156,186,198]}],"children":[],"genes":[{"symbol":"SLC2A10","name":"solute carrier family 2 member 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16550171[PMID]_17935213[PMID]_20547159[PMID]","hgnc":"13444","ensembl":"ENSG00000197496","omim":"606145","loci":["20q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":102.0,"area":"Worldwide","status":"Validated","source":"29323665[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29323665[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-21","source":"16550171[PMID]_17935213[PMID]_20547159[PMID]","terms":[{"hpo":"HP:0005344","label":"Abnormality of the carotid arteries","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100545","label":"Arterial stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Very frequent 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