{"orpha":221145,"name":"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ARCL1C","Autosomal recessive cutis laxa type 1C","Urban-Rifkin-Davis syndrome"],"definition":"A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-221145/","orphanet_url":"https://www.orpha.net/en/disease/detail/221145","names":{"fr":{"name":"Cutis laxa avec anomalies pulmonaires, gastrointestinales et urinaires sévères","synonyms":["ARCL1C","Cutis laxa autosomique récessive type 1C","Syndrome d'Urban-Rifkin-Davis"],"definition":"Anomalie génétique rare de l'élasticité du derme caractérisée par une cutis laxa généralisée associée à un emphysème pulmonaire sévère, généralement précoce, à une atteinte gastro-intestinale et génito-urinaire fréquente et sévère (à savoir diverticules et/ou tortuosités de la vessie/intestin, fragilité gastro-intestinale, hydronéphrose) et à une atteinte cardiovasculaire légère (généralement limitée à une sténose de l'artère pulmonaire périphérique)."},"de":{"name":"Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien","synonyms":["ARCL1C","Cutis laxa, autosomal-rezessiv, Typ 1C","URDS","Urban-Rifkin-Davis-Syndrom"],"definition":"Eine genetisch bedingte Störung des elastischen Hautgewebes, die durch eine generalisierte Cutis laxa gekennzeichnet ist, die mit einem schweren, in der Regel früh einsetzenden Lungenemphysem, einer häufigen und schweren gastrointestinalen und urogenitalen Beteiligung (z. B. Divertikel und/oder Tortuosität der Blase/Darm, gastrointestinale Fragilität, Hydronephrose) und einer leichten kardiovaskulären Beteiligung (in der Regel nur auf die periphere Lungenarterienstenose beschränkt) einhergeht."},"es":{"name":"Cutis laxa con anomalías urinarias, gastrointestinales y pulmonares graves","synonyms":["ARCL1C","Cutis laxa autosómica recesiva tipo 1C","Síndrome de Urban-Rifkin-Davis"],"definition":"Es un trastorno genético poco frecuente del tejido elástico de la dermis caracterizado por cutis laxo generalizado asociado a enfisema pulmonar grave, por lo general, de inicio temprano, frecuente afectación gastrointestinal y genitourinaria grave (divertículos y/o tortuosidad en intestinos / vejiga) fragilidad gastrointestinal, hidronefrosis) y leve afectación cardiovascular (típicamente limitada a estenosis de la arteria pulmonar periférica)."},"it":{"name":"Cutis laxa con gravi anomalie polmonari, gastrointestinali e urinarie","definition":"È una malattia genetica rara del tessuto elastico del derma, caratterizzata da cutis laxa generalizzata, associata ad enfisema polmonare grave, di solito ad esordio precoce, interessamento frequente e grave del tratto gastrointestinale e dell'apparato genito-urinario (diverticoli e/o tortuosità della vescica/intestino, fragilità gastrointestinale, idronefrosi) e lieve interessamento dell'apparato cardiovascolare (di solito limitato alla stenosi delle arterie polmonari periferiche)."},"nl":{"name":"Cutis laxa met ernstige pulmonale, gastro-intestinale en urinaire anomalieën","synonyms":["ARCL1C","Autosomaal recessieve cutis laxa type 1C","Syndroom van Urban-Rifkin-Davis"],"definition":"Een zeldzame, genetische stoornis van het elastisch weefsel van de dermis die gekarakteriseerd wordt door gegeneraliseerde cutis laxa geassocieerd met ernstig, meestal vroeg aanvangend, longemfyseem, frequente en ernstige betrokkenheid van het gastro-intestinale en urogenitale stelsel (i.e. divertikels in en/of tortuositeit van blaas/darm, gastro-intestinale broosheid, hydronefrose), en milde cardiovasculaire betrokkenheid (doorgaans beperkt tot perifere stenose van de longslagader)."},"pt":{"name":"Cutis laxa com anomalias graves pulmonares, gastrointestinais e urinárias"},"pl":{"name":"Wiotka skóra z ciężkimi anomaliami płucnymi, żołądkowo-jelitowymi i moczowymi","synonyms":["Zespół Urbana, Rifkina i Davisa"]},"cs":{"name":"Volná kůže s těžkými anomáliemi respiračního, gastrointestinálního a močového ústrojí","synonyms":["Urbanův-Rifkinův-Davisové syndrom","Urban-Rifkin-Davisové syndrom"]},"uk":{"name":"Cutis laxa з тяжкими легеневими, шлунково-кишковими та сечовими аномаліями","synonyms":["ARCL1C","Аутосомно-рецесивний cutis laxa тип 1С","Синдром Урбана-Ріфкіна-Девіса"],"definition":"A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only)."},"zh":{"name":"皮肤松弛症伴严重的肺、胃肠和泌尿系统异常","synonyms":["常染色体隐性遗传性皮肤松弛症1C型"],"definition":"一种罕见的遗传性真皮弹性组织疾病，其特征是全身皮肤松弛，伴有严重的，通常是早发的肺气肿，常有严重的胃肠道和泌尿生殖道受累（即膀胱/肠憩室和/或弯曲、胃肠道薄弱、肾积水），轻度心血管病变（通常仅限于周围肺动脉狭窄）。"},"tr":{"name":"Ağır pulmoner, gastrointestinal ve üriner anomali ile seyreden kutis laksa","synonyms":["ARCL1C","Urban-Rifkin-Davis sendromu","Otozomal Çekinik kutis laksa tip 1C"]}},"xrefs":[{"source":"OMIM","code":"613177","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"424903269"},{"source":"MONDO","code":"0013170","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567716","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2750804","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":209,"name":"Cutis laxa","classifications":[147,156,182,186,187]}],"children":[],"genes":[{"symbol":"LTBP4","name":"latent transforming growth factor beta binding protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"19836010[PMID]_22829427[PMID]","hgnc":"6717","ensembl":"ENSG00000090006","omim":"604710","loci":["19q13.2"]},{"symbol":"LTBP4","name":"latent transforming growth factor beta binding protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19836010[PMID]_22829427[PMID]","hgnc":"6717","ensembl":"ENSG00000090006","omim":"604710","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"26866239[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26866239[PMID]"}],"phenotypes":null}