{"orpha":90349,"name":"Autosomal recessive cutis laxa type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ARCL1","Autosomal recessive cutis laxa with severe systemic involvement","Autosomal recessive cutis laxa, pulmonary emphysema type"],"definition":"A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90349/","orphanet_url":"https://www.orpha.net/en/disease/detail/90349","names":{"fr":{"name":"Cutis laxa autosomique récessive type 1","synonyms":["ARCL1","Cutis laxa autosomique récessive avec atteinte systémique sévère","Cutis laxa autosomique récessive type emphysème pulmonaire"],"definition":"Le cutis laxa autosomique récessif de type 1 (ARCL1) est une maladie généralisée du tissue conjonctif caractérisée par l'association d'une peau inélastique, ridée et formant des plis et de manifestations systémiques sévères (atélectasies et emphysème pulmonaires, anomalies vasculaires et diverticules des tractus gastrointestinal et urogénital)."},"de":{"name":"Cutis laxa, autosomal-rezessive, Typ 1","synonyms":["ARCL1","Cutis laxa, autosomal-rezessive, Lungenemphysem Typ","Cutis laxa, autosomal-rezessive, mit schwerer systemischer Beteiligung"],"definition":"Der Typ 1 der autosomal-rezessiven Cutis laxa (ARCL1) ist eine generalisierte Erkrankung des Bindegewebes und charakterisiert durch die Assoziation von runzliger, überschüssiger, herabhängender, unelastischer Haut mit schweren systemischen Manifestationen (Lungenatelektasen und -emphysem, Gefäßanomalien und Divertikel des Magen-Darmtraktes und der Harnwege)."},"es":{"name":"Cutis laxa autosómica recesiva tipo 1","synonyms":["ARCL1","Cutis laxa autosómica recesiva con afectación sistémica grave","Cutis laxa autosómica recesiva tipo enfisema pulmonar"],"definition":"La cutis laxa autosómica recesiva de tipo 1 (ARCL1) es un trastorno generalizado del tejido conectivo caracterizado por la asociación de piel arrugada, inelástica, flácida y redundante con severas manifestaciones sistémicas (atelectasia pulmonar y enfisema, anomalías vasculares y divertículos del tracto gastrointestinal y genitourinario)."},"it":{"name":"Cutis laxa autosomica recessiva, tipo 1","synonyms":["ARCL1","Cutis laxa autosomica recessiva con coinvolgimento sistemico","Cutis laxa autosomica recessiva, tipo enfisema polmonare"]},"nl":{"name":"Autosomaal recessieve cutis laxa type 1","synonyms":["ARCL1","Autosomaal recessieve cutis laxa met ernstige systemische betrokkenheid","Autosomaal recessieve cutis laxa, pulmonaal emfyseem-type"],"definition":"Een gegeneraliseerde aandoening van bindweefsel, gekenmerkt door de associatie van gerimpelde, overtollige en hangende inelastische huid met ernstige, systemische manifestaties (atelectase en emfyseem van long, vasculaire anomalieën, en divertikels van gastro-intestinaal en urogenitaal stelsel)."},"pt":{"name":"Cutis laxa autossómica recessiva tipo 1","definition":"A cutis laxa autossómica recessiva tipo 1 (ARCL1) é uma doença generalizada do tecido conjuntivo caracterizada pela associação de pele com rugas, redundante, flácida e inelástica com manifestações sistémicas graves (atelectesias e enfisema pulmonar, anomalias vasculares e divertículos do trato gastrointestinal e genito-urinário)."},"pl":{"name":"Autosomalna recesywna skóra wiotka typu 1","synonyms":["Autosomalna recesywna skóra wiotka with severe systemic involvement","ARCL1","Autosomalna recesywna skóra wiotka z rozedmą płuc"]},"cs":{"name":"Autozomálně recesivní cutis laxa, typ 1","synonyms":["ARCL1","Autozomálně recesivní cutis laxa s těžkým systémovým postižením","Autozomálně recesivní cutis laxa, typ plicní emfyzém"]},"uk":{"name":"Аутосомно-рецесивний синдром cutis laxa, тип 1","synonyms":["ARCL1","Аутосомно-рецесивний cutis laxa з тяжким системним ураженням","Аутосомно-рецесивний cutis laxa, тип легеневої емфіземи"],"definition":"A generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli)."},"zh":{"name":"常染色体隐性遗传皮肤松弛症1型","synonyms":["常染色体隐性遗传皮肤松弛症伴严重系统性受累"]},"tr":{"name":"Otozomal resesif kutis laksa tip 1","synonyms":["ARCL1","Otozomal çekinik kutis laksa, pulmoner amfizem tipi","Ağır sistemik tutulumlu otozomal çekinik kutis laksa"]}},"xrefs":[{"source":"OMIM","code":"219100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614437","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619446","qualifier":"BTNT","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":"1907973642"},{"source":"MONDO","code":"0019572","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562628","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268351","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8480","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":209,"name":"Cutis laxa","classifications":[147,156,182,186,187]},{"orpha":233655,"name":"Rare genetic vascular disease","classifications":[156,198]}],"children":[],"genes":[{"symbol":"EFEMP2","name":"EGF-like fibulin extracellular matrix protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16685658[PMID]_19664000[PMID]","hgnc":"3219","ensembl":"ENSG00000172638","omim":"604633","loci":["11q13.1"]},{"symbol":"FBLN5","name":"fibulin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22829427[PMID]","hgnc":"3602","ensembl":"ENSG00000140092","omim":"604580","loci":["14q32.12"]},{"symbol":"LTBP1","name":"latent transforming growth factor beta binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33991472[PMID]","hgnc":"6714","ensembl":"ENSG00000049323","omim":"150390","loci":["2p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2024-07-09","source":"20301756[PMID]_30422539[PMID]_19401719[PMID]","terms":[{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0010750","label":"Dermatochalasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025167","label":"Fragmented elastic fibers in the dermis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011004","label":"Abnormal systemic arterial morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004426","label":"Abnormality of the cheek","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045027","label":"Abnormality of the thoracic cavity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032153","label":"Joint subluxation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004969","label":"Peripheral pulmonary artery stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002107","label":"Pneumothorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030872","label":"Abnormal cardiac ventricular function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006698","label":"Dilatation of the ventricular cavity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012619","label":"Multiple bladder diverticula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012330","label":"Pyelonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002256","label":"Small bowel diverticula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004381","label":"Supravalvular aortic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008722","label":"Urethral diverticulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}