{"orpha":286,"name":"Vascular Ehlers-Danlos syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Arterial-ecchymotic EDS","EDS IV","Ehlers-Danlos syndrome type 4","Sack-Barabas syndrome","Vascular EDS","vEDS"],"definition":"A rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-286/","orphanet_url":"https://www.orpha.net/en/disease/detail/286","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos vasculaire","synonyms":["EDS IV","SED artériel-ecchymotique","SED type 4","SEDv","Syndrome d'Ehlers-Danlos type 4","Syndrome de Sack-Barabas"],"definition":"Anomalie rare du tissu conjonctif d'origine génétique associant généralement une fragilité inhabituelle des organes (rupture artérielle/intestinale/utérine gravide) et des caractéristiques physiques inconstantes : une peau fine et translucide, une tendance aux ecchymoses et des traits acrogériques."},"de":{"name":"Ehlers-Danlos-Syndrom, vaskulärer Typ","synonyms":["Arteriell-ekchymotisches EDS","EDS IV","EDS, vaskuläres","Ehlers-Danlos-Syndrom Typ 4","Sack-Barabas-Syndrom","vEDS"],"definition":"Eine seltene genetische Bindegewebsstörung, die typischerweise durch eine unerwartete Organbrüchigkeit (Arterien-/Darm-/Gravidienruptur) in Verbindung mit unbeständigen körperlichen Merkmalen wie dünner, durchscheinender Haut, leichten Blutergüssen und akrogerischen Zügen gekennzeichnet ist."},"es":{"name":"Síndrome de Ehlers-Danlos vascular","synonyms":["SED IV","SED arterio-equimótico","SED vascular","Síndrome de Ehlers-Danlos tipo 4","Síndrome de Sack-Barabas"],"definition":"Es un trastorno poco frecuente del tejido conjuntivo genético que se caracteriza típicamente por la asociación de una fragilidad orgánica inesperada (rotura arterial/intestinal/uterina grave) con características físicas variables como piel fina y translúcida, tendencia a la formación de hematomas y rasgos faciales acrogéricos."},"it":{"name":"Sindrome di Ehlers-Danlos, tipo vascolare","synonyms":["EDS IV","EDS arteriosa-ecchimotica","EDS vascolare","Sindrome di Ehlers-Danlos, tipo 4","Sindrome di Sack-Barabas","vEDS"],"definition":"La sindrome di Ehlers-Danlos tipo vascolare (vEDS) è una malattia genetica rara del tessuto connettivo, caratterizzata da fragilità degli organi (rottura delle arterie, dell'intestino e dell'utero durante la gravidanza), associata a segni clinici variabili, che comprendono la cute traslucida e sottile, la tendenza alle ecchimosi e i segni dell'acrogeria."},"nl":{"name":"Vasculair syndroom van Ehlers-Danlos","synonyms":["Arterieel-ecchymotisch EDS","EDS IV","Syndroom van Ehlers-Danlos type 4","Syndroom van Sack-Barabas","Vasculair EDS","vEDS"],"definition":"Een zeldzame, genetische aandoening van bindweefsel, doorgaans geassocieerd door de associatie van onverwachte fragiliteit van organen (ruptuur van arterie/darm/gravide uterus) met wisselvallige fysieke kenmerken als dunne en doorschijnende huid, vatbaarheid voor kneuzing, en kenmerken van acrogerie."},"pt":{"name":"Síndrome Ehlers-Danlos vascular","synonyms":["EDS IV","EDS equimótico-arterial","EDS vascular","Síndrome Ehlers-Danlos tipo 4"]},"pl":{"name":"Zespół Ehlersa i Danlosa naczyniowy","synonyms":["Zespół Ehlersa i Danlosa typu 4","Zespół Ehlersa i Danlosa typu IV","Zespół Sacka i Barabasa"]},"cs":{"name":"Ehlersův-Danlosův syndrom, vaskulární typ","synonyms":["EDS IV","EDS typ 4","Ehlersův-Danlosův syndrom, typ 4","Ehlersův-Danlosův syndrom, typ IV","Sackův-Barabasův syndrom","Ehlers-Danlosův syndrom, vaskulární typ","Ehlers-Danlosův syndrom, typ 4","Ehlers-Danlosův syndrom, typ IV","Sack-Barabasův syndrom"]},"uk":{"name":"Судинний синдром Елерса-Данлоса","synonyms":["Артеріально-екхімозний EDS","EDS IV","Синдром Елерса-Данлоса, тип 4","Синдром Сакка-Барабаса","Судинний EDS","VEDS"],"definition":"A rare genetic connective tissue disorder typically characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits."},"zh":{"name":"血管性Ehlers-Danlos综合征","synonyms":["Ehlers-Danlos综合征4型"]},"tr":{"name":"Vasküler Ehlers-Danlos sendromu","synonyms":["vEDS","EDS IV","Sack-Barabas sendromu","Arteriyel-ekimotik EDS","Ehlers-Danlos sendromu tip 4"]}},"xrefs":[{"source":"OMIM","code":"130050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1202686415"},{"source":"MONDO","code":"0017314","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000094623","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268338","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2082","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":98249,"name":"Ehlers-Danlos syndrome","classifications":[147,156,187,196]},{"orpha":285014,"name":"Rare disease with thoracic aortic aneurysm and aortic dissection","classifications":[156,186,198]}],"children":[],"genes":[{"symbol":"COL3A1","name":"collagen type III alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301667[PMID]","hgnc":"2201","ensembl":"ENSG00000168542","omim":"120180","loci":["2q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"35779834[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-05-07","source":"28306229[PMID]_28306228[PMID]_38926786[PMID]_20301667[PMID]_24922459[PMID]_30999998[PMID]","terms":[{"hpo":"HP:0004947","label":"Arteriovenous fistula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031369","label":"Colon perforation","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0010648","label":"Dermal translucency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011029","label":"Internal hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002619","label":"Varicose veins","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002647","label":"Aortic dissection","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005294","label":"Arterial dissection","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004970","label":"Ascending tubular aorta aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031157","label":"Carotid cavernous fistula","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001073","label":"Cigarette-paper scars","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0034518","label":"Gingival fragility","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0030816","label":"Gingival recession","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000230","label":"Gingivitis","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:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000704","label":"Periodontitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002107","label":"Pneumothorax","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011891","label":"Post-partum hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005267","label":"Premature delivery because of cervical insufficiency or membrane fragility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006357","label":"Premature loss of permanent teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032447","label":"Pulmonary bleb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100817","label":"Renovascular hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012223","label":"Splenic rupture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000814","label":"Temporomandibular joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100550","label":"Tendon rupture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000139","label":"Uterine prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009775","label":"Amniotic constriction ring","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000563","label":"Keratoconus","frequency":"Very rare (<4-1%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100718","label":"Uterine rupture","frequency":"Very rare (<4-1%)","criteria":"Diagnostic criterion"}]}}