{"orpha":75497,"name":"X-linked Ehlers-Danlos syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked EDS","EDS V","Ehlers-Danlos syndrome type 5"],"definition":"A rare systemic disease characterized by a severe phenotype in all male patients, combining abnormality of connective tissue typical for Ehlers-Danlos syndrome (including joint hypermobility, scoliosis, soft and doughy skin, hyperextensible skin, abnormal scarring, facial peculiarities, and generalized hypotonia, among others) and eventually lethal congestive heart failure due to polyvalvular disease. Female carriers are affected to a variable degree.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75497/","orphanet_url":"https://www.orpha.net/en/disease/detail/75497","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos lié à l'X","synonyms":["EDS V","SED V","Syndrome d'Ehlers-Danlos type 5"],"definition":"Maladie systémique rare caractérisée par un phénotype sévère chez tous les patients de sexe masculin, associant une anomalie du tissu conjonctif typique du syndrome d'Ehlers-Danlos (notamment une hypermobilité articulaire, une scoliose, une peau douce d'aspect « pâteux », hyperextensible, présentant des anomalies de cicatrisation, des particularités faciales et une hypotonie généralisée) et une insuffisance cardiaque congestive létale due à la maladie polyvalvulaire. Les femmes porteuses sont touchées à un degré variable."},"de":{"name":"Ehlers-Danlos-Syndrom, X-chromosomales","synonyms":["EDS V","Ehlers-Danlos-Syndrom Typ 5"],"definition":"Seltene systemische Erkrankung, die durch einen schweren Phänotyp bei allen männlichen Patienten gekennzeichnet ist und die für das Ehlers-Danlos-Syndrom typischen Bindegewebsanomalien (u. a. Hypermobilität der Gelenke, Skoliose, weiche und teigige Haut, hyperextensive Haut, abnorme Narbenbildung, Gesichtsanomalien und generalisierte Hypotonie) mit einer letztlich tödlich verlaufenden Herzinsuffizienz aufgrund einer polyvalenten Erkrankung kombiniert. Weibliche Träger sind in unterschiedlichem Ausmaß betroffen."},"es":{"name":"Síndrome de Ehlers-Danlos ligado al cromosoma X","synonyms":["SED V","SED ligado al cromosoma X","Síndrome de Ehlers-Danlos tipo 5"],"definition":"Es una enfermedad sistémica poco frecuente caracterizada por un fenotipo grave en todos los varones afectos, que combina las anomalías del tejido conectivo típicas del síndrome de Ehlers-Danlos (incluyendo hipermovilidad articular, escoliosis, piel suave y aterciopelada, hiperextensibilidad cutánea, cicatrización anómala, peculiaridades faciales e hipotonía generalizada, entre otros) y, posteriormente, una insuficiencia cardíaca congestiva letal derivada de la enfermedad polivalvular. Las mujeres portadoras presentan distintos grados de afectación."},"it":{"name":"Sindrome di Ehlers-Danlos legata all'X","synonyms":["EDS V","EDS legata all'X","Sindrome di Ehlers-Danlos, tipo 5"],"definition":"Si tratta di una malattia sistemica rara, che si associa a un quadro clinico grave in tutti i pazienti maschi, caratterizzata dalle anomalie del tessuto connettivo tipiche della sindrome di Ehlers-Danlos (ipermobilità articolare, scoliosi, cute flaccida, soffice e iperelastica, anomalie della cicatrizzazione, dismorfismi facciali caratteristici e ipotonia generalizzata) e insufficienza cardiaca congestizia letale secondaria alla malattia polivalvolare. Nelle femmine portatrici la gravità della malattia è variabile."},"nl":{"name":"X-gebonden syndroom van Ehlers-Danlos","synonyms":["EDS V","Syndroom van Ehlers-Danlos type 5","X-gebonden EDS"],"definition":"Een zeldzame, systemische ziekte, gekarakteriseerd door een ernstig fenotype bij alle mannelijke patiënten, met een combinatie van afwijkingen van bindweefsel typisch voor syndroom van Ehlers-Danlos (onder meer gewrichtshypermobiliteit, scoliose, zachte en deegachtige huid, hyperextensibiliteit van huid, abnormale littekenvorming, afwijkend gelaat, en gegeneraliseerde hypotonie) en op termijn letaal congestief hartfalen door polyvalvulaire ziekte. Vrouwelijke dragers worden in variabele mate aangetast."},"pt":{"name":"Síndrome Ehlers-Danlos ligada ao X","synonyms":["EDS V","EDS ligada ao X","Síndrome Ehlers-Danlos tipo 5"]},"pl":{"name":"Zespół Ehlersa i Danlosa sprzężony z chromosomem X","synonyms":["Sprzężony z płcią zespół Ehlersa i Danlosa"]},"cs":{"name":"X-vázaný Ehlersův-Danlosův syndrom","synonyms":["EDS V","Ehlersův-Danlosův syndrom, typ 5","X-vázaný Ehlers-Danlosův syndrom","Ehlers-Danlosův syndrom, typ 5"]},"uk":{"name":"Х-зчеплений синдром Елерса-Данлоса","synonyms":["EDS V","Синдром Елерса-Данлоса, тип 5","Х-зчеплений ЕДС"],"definition":"A rare systemic disease characterized by a severe phenotype in all male patients, combining abnormality of connective tissue typical for Ehlers-Danlos syndrome (including joint hypermobility, scoliosis, soft and doughy skin, hyperextensible skin, abnormal scarring, facial peculiarities, and generalized hypotonia, among others) and eventually lethal congestive heart failure due to polyvalvular disease. Female carriers are affected to a variable degree."},"zh":{"name":"X连锁Ehlers-Danlos综合征","synonyms":["Ehlers-Danlos综合征5型"]},"tr":{"name":"X'e bağlı Ehlers-Danlos sendromu","synonyms":["EDS V","Ehlers-Danlos sendromu tip 5"]}},"xrefs":[{"source":"OMIM","code":"314400","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":"811572965"},{"source":"MONDO","code":"0010586","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536197","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268341","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]}],"children":[],"genes":[{"symbol":"FLNA","name":"filamin A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27739212[PMID]","hgnc":"3754","ensembl":"ENSG00000196924","omim":"300017","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"4006272[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4006272[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null}]}}