{"orpha":90348,"name":"Autosomal dominant cutis laxa","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADCL"],"definition":"A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90348/","orphanet_url":"https://www.orpha.net/en/disease/detail/90348","names":{"fr":{"name":"Cutis laxa autosomique dominante","synonyms":["ADCL"],"definition":"Le cutis laxa autosomique dominant (ADCL) est une maladie du tissu conjonctif caractérisée par une peau non élastique, ridée, en excès et formant des plis, qui s'associe dans certains cas à une atteinte des organes internes."},"de":{"name":"Cutis laxa, autosomal-dominante","synonyms":["ADCL"],"definition":"Die autosomal-dominante Cutis laxa (ADCL) ist eine Erkrankung des Bindegewebes mit runzliger, überschüssiger, herabhängender, unelastischer Haut und bei einigen Fällen auch mit Beteiligung der inneren Organe."},"es":{"name":"Cutis laxa autosómica dominante","synonyms":["ADCL"],"definition":"Es un trastorno del tejido conectivo caracterizado por la piel arrugada, inelástica y redundante asociada, en algunos casos, a afectación de órganos internos."},"it":{"name":"Cutis laxa autosomica dominante","synonyms":["ADCL"]},"nl":{"name":"Autosomaal dominante cutis laxa","synonyms":["ADCL"],"definition":"Een zeldzame aandoening van bindweefsel, gekenmerkt door gerimpelde, overtollige en hangende inelastische huid, in sommige gevallen geassocieerd met betrokkenheid van inwendige organen."},"pt":{"name":"Cutis laxa autossómica dominante","definition":"A cutis laxa autossómica dominante (ADCL) é uma doença rara do tecido conjuntivo caracterizada por pele com rugas, redundante, flácida e inelástica, nalguns casos associada a envolvimento de órgãos internos."},"pl":{"name":"Autosomalna dominująca skóra wiotka","synonyms":["ADCL"]},"cs":{"name":"Autozomálně dominantní cutis laxa","synonyms":["ADCL"]},"uk":{"name":"Аутосомно-домінантна cutis laxa","synonyms":["ADCL"],"definition":"A rare connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement."},"zh":{"name":"常染色体显性皮肤松弛症","synonyms":["ADCL"]},"tr":{"name":"Otozomal dominant kutis laksa","synonyms":["ADCL"]}},"xrefs":[{"source":"OMIM","code":"123700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614434","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616603","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":"720393698"},{"source":"MONDO","code":"0019571","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562627","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268350","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1639","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]}],"children":[],"genes":[{"symbol":"ALDH18A1","name":"aldehyde dehydrogenase 18 family member A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26320891[PMID]","hgnc":"9722","ensembl":"ENSG00000059573","omim":"138250","loci":["10q24.1"]},{"symbol":"ELN","name":"elastin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16085695[PMID]_18348261[PMID]","hgnc":"3327","ensembl":"ENSG00000049540","omim":"130160","loci":["7q11.23"]},{"symbol":"FBLN5","name":"fibulin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12618961[PMID]_20301756[PMID]","hgnc":"3602","ensembl":"ENSG00000140092","omim":"604580","loci":["14q32.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"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":"2021-10-04","source":"33509220[PMID]_32859844[PMID]_20301756[PMID]","terms":[{"hpo":"HP:0000973","label":"Cutis laxa","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:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007522","label":"Increased number of skin folds","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100678","label":"Premature skin wrinkling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010674","label":"Abnormality of the curvature of the vertebral column","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","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:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000015","label":"Bladder diverticulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011950","label":"Bronchiolitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010648","label":"Dermal translucency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006698","label":"Dilatation of the ventricular cavity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004969","label":"Peripheral pulmonary artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012330","label":"Pyelonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005989","label":"Redundant neck skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002256","label":"Small bowel diverticula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002816","label":"Genu recurvatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002677","label":"Small foramen magnum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001884","label":"Talipes calcaneovalgus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Very rare (<4-1%)","criteria":null}]}}