{"orpha":485418,"name":"EMILIN-1-related connective tissue disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-485418/","orphanet_url":"https://www.orpha.net/en/disease/detail/485418","names":{"fr":{"name":"Connectivite associée à EMILIN-1","definition":"Maladie héréditaire rare avec neuropathie périphérique caractérisée par une neuropathie distale sensorimotrice ou motrice des membres inférieurs avec une faiblesse et atrophie musculaires. Certains patients manifestent une maladie du tissu conjonctif avec des signes cliniques et des symptômes tels qu'une élasticité accrue de la peau et une tendance aux ecchymoses (sans cicatrices atrophiques), une diminution de la coagulation, des anévrismes aortiques, une hypermobilité articulaire et des ruptures récurrentes de tendons."},"de":{"name":"EMILIN-1-assoziierte Bindegewebskrankheit","definition":"Eine hereditäre Neuropathie, die gekennzeichnet ist durch eine distale sensomotorische oder motorische Neuropathie der unteren Gliedmaßen mit Muskelschwäche und -atrophie. Einige Patienten zeigen eine offenkundige Bindegewebserkrankung mit Anzeichen und Symptomen wie erhöhte Hautelastizität und leichte Blutergüsse (aber keine atrophische Narbenbildung), verminderte Blutgerinnung, Aortenaneurysmen, Gelenkhypermobilität und wiederkehrende Sehnenrisse."},"es":{"name":"Enfermedad del tejido conectivo asociada al gen EMILIN-1","definition":"Es una enfermedad poco frecuente con neuropatía periférica hereditaria que se caracteriza por neuropatía sensitivo-motora o motora distal de las extremidades inferiores con debilidad y atrofia muscular. Algunos pacientes muestran enfermedad manifiesta del tejido conectivo con signos y síntomas como aumento de la elasticidad de la piel y fácil formación de hematomas (pero sin cicatrices atróficas), disminución de la coagulación, aneurismas aórticos, hipermovilidad articular y roturas tendinosas recurrentes ."},"it":{"name":"Malattia del tessuto connettivo correlata a EMILINA-1","definition":"Si tratta di una malattia ereditaria rara associata alla neuropatia periferica, caratterizzata dalla neuropatia sensitivo-motoria o motoria distale, che interessa gli arti inferiori, associata alla debolezza e all'atrofia muscolare. Alcuni pazienti presentano una malattia conclamata del tessuto connettivo, caratterizzata da iperelasticità della cute e tendenza alle ecchimosi (ma non alle cicatrici atrofiche), coagulazione ridotta, aneurismi dell'aorta, ipermobilità articolare e rotture ricorrenti dei tendini."},"nl":{"name":"EMILIN-1-gerelateerde bindweefselziekte","definition":"Een zeldzame erfelijke aandoening met perifere neuropathie, gekarakteriseerd door distale sensomotorische of motorische neuropathie van onderste ledematen met spierzwakte en -atrofie. Sommige patiënten vertonen manifeste bindweefselziekte met verschijnselen en symptomen als verhoogde elasticiteit van huid en vatbaarheid voor kneuzing (maar geen atrofische littekenvorming), verminderde bloedstolling, aneurysma van aorta, gewrichtshypermobiliteit, en recidiverende ruptuur van pees."},"pt":{"name":"Doença do tecido conjuntivo EMILIN-1-relacionada"},"pl":{"name":"Choroba tkanki łącznej związana z EMILIN-1"},"cs":{"name":"EMILIN-1-vázaná porucha pojiva"},"uk":{"name":"Захворювання сполучної тканини, повязане з EMILIN-1","definition":"A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures."},"zh":{"name":"EMILIN-1相关结缔组织病","definition":"一种罕见的遗传性疾病，以下肢远端感觉运动或运动神经病变为特征，伴有肌肉无力和萎缩。部分患者表现为明显的结缔组织病，症状和体征如皮肤弹性增大，容易淤血(但无萎缩性瘢痕)，凝血功能减退，主动脉瘤，关节活动度低，肌腱反复断裂等。"},"tr":{"name":"EMILIN-1-ilişkili bağ dokusu hastalığı"}},"xrefs":[{"source":"OMIM","code":"620080","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044622","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681244","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":207021,"name":"Rare hereditary systemic disease with peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"EMILIN1","name":"elastin microfibril interfacer 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26462740[PMID]","hgnc":"19880","ensembl":"ENSG00000138080","omim":"130660","loci":["2p23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26462740[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26462740[PMID]"}],"phenotypes":null}