{"orpha":230851,"name":"Cardiac-valvular Ehlers-Danlos syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cardiac-valvular EDS","cvEDS"],"definition":"A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-230851/","orphanet_url":"https://www.orpha.net/en/disease/detail/230851","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos type cardiaque valvulaire","synonyms":["EDS type cardiaque valvulaire","SED cardio-valvulaire","SEDcv"],"definition":"Forme rare du syndrome d'Ehlers-Danlos (SED) qui se caractérise par une peau douce et hyperextensible avec une tendance aux ecchymoses, formant des cicatrices atrophiques, une hypermobilité articulaire et des maladies valvulaires graves et progressives, notamment, une insuffisance de la valve mitrale et/ou aortique."},"de":{"name":"Ehlers-Danlos-Syndrom, kardio-valvulärer Typ","synonyms":["EDS vom Herzklappentyp","EDS, kardiovalvuläres","cvEDS"],"definition":"Eine seltene Form des Ehlers-Danlos-Syndroms (EDS), die durch weiche Haut, Überdehnbarkeit der Haut, Neigung zu blauen Flecken, atrophische Narbenbildung, Gelenkhypermobilität und schwere, progressive Herzklappenfehler mit Mitral- und/oder Aortenklappeninsuffizienz gekennzeichnet ist."},"es":{"name":"Síndrome de Ehlers-Danlos cardíaco-valvular","synonyms":["SED cardiaco-valvular"],"definition":"Es una forma poco frecuente del síndrome de Ehlers-Danlos (SED) caracterizada por piel suave, hiperextensibilidad cutánea, propensión a hematomas, formación de cicatrices atróficas, hipermovilidad articular y graves defectos progresivos de las válvulas cardiacas incluyendo insuficiencia de la válvula mitral y/o aórtica."},"it":{"name":"Sindrome di Ehlers-Danlos, tipo cardio-valvolare","synonyms":["EDS, tipo cardiaco-valvolare"],"definition":"Si tratta di una forma rara della sindrome di Ehlers-Danlos (EDS), caratterizzata da cute sottile, iperelastica, tendenza alle ecchimosi, tendenza alla formazione di cicatrici atrofiche, ipermobilità articolare e difetti gravi e progressivi delle valvole cardiache, che comprendono l'insufficienza della valvola mitrale e/o aortica."},"nl":{"name":"Cardiaal-valvulair syndroom van Ehlers-Danlos","synonyms":["Cardiaal-valvulair EDS","cvEDS"],"definition":"Een zeldzame vorm van syndroom van Ehlers-Danlos (EDS), gekarakteriseerd door zachte huid, hyperextensibiliteit van huid, gevoeligheid voor kneuzing, vorming van atrofisch litteken, gewrichtshypermobiliteit, en ernstige, progressieve defecten van hartklep waaronder insufficiëntie van mitralis- en/of aortaklep."},"pt":{"name":"Síndrome de Ehlers-Danlos, tipo valvular cardíaco"},"pl":{"name":"Zespół Ehlersa i Danlosa, typ zastawek serca","synonyms":["EDS, typ zastawek serca"]},"cs":{"name":"Ehlersův-Danlosův syndrom, srdeční valvulární typ","synonyms":["EDS, srdeční valvulární typ","Ehlers-Danlosův syndrom, srdeční valvulární typ"]},"uk":{"name":"Серцево-клапанний синдром Елерса-Данлоса","synonyms":["Серцево-клапанний EDS","cvEDS"],"definition":"A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency."},"zh":{"name":"心脏瓣膜埃勒斯-当洛斯综合征","synonyms":["心脏瓣膜EDS"],"definition":"一种罕见的Ehlers-Danlos综合征（EDS），其特征是皮肤柔软、皮肤过度伸展、易挫伤、萎缩性瘢痕形成、关节活动过度和包含二尖瓣和/或主动脉瓣功能不全在内的严重进行性心脏瓣膜缺损。"},"tr":{"name":"Kardiyak-valvüler Ehlers-Danlos sendromu","synonyms":["cvEDS","Kardiyak-kapak EDS"]}},"xrefs":[{"source":"OMIM","code":"225320","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":"531375176"},{"source":"MONDO","code":"0009159","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303789","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12613","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":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"COL1A2","name":"collagen type I alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15077201[PMID]_16816023[PMID]","hgnc":"2198","ensembl":"ENSG00000164692","omim":"120160","loci":["7q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"16816023[PMID]_1507720[PMID]_2952379[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-22","source":"30821104[PMID]_15077201[PMID]","terms":[{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0006109","label":"Absent phalangeal crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002816","label":"Genu recurvatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0006201","label":"Hypermobility of distal interphalangeal joints","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001027","label":"Soft, doughy skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001848","label":"Calcaneovalgus deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500041","label":"Myopic astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010444","label":"Pulmonary insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031610","label":"Recurrent shoulder dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012717","label":"Severe conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100550","label":"Tendon rupture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032523","label":"Tendon thickening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002944","label":"Thoracolumbar scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}