{"orpha":228429,"name":"Congenital generalized lipodystrophy type 4","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["BSCL type 4","Berardinelli-Seip syndrome type 4, BSCL type 4","GCL4"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-228429/","orphanet_url":"https://www.orpha.net/en/disease/detail/228429","names":{"fr":{"name":"Lipodystrophie généralisée congénitale de type 4","synonyms":["LCG4","Syndrome de Berardinelli-Seip type 4"]},"de":{"name":"Lipodystrophie, generalisierte kongenitale, Typ 4","synonyms":["BSCL Typ 4","Berardinelli-Seip-Syndrom Typ 4","GCL4"]},"es":{"name":"Lipodistrofia congénita generalizada tipo 4","synonyms":["BSCL tipo 4","GCL4","Síndrome de Berardinelli-Seip syndrome tipo 4"]},"it":{"name":"Lipodistrofia congenita generalizzata con miopatia","synonyms":["GCL4","Lipodistrofia congenita generalizzata, tipo 4"]},"nl":{"name":"Congenitale gegeneraliseerde lipodystrofie type 4","synonyms":["BSCL type 4","GCL4","Syndroom van Berardinelli-Seip type 4"]},"pt":{"name":"Lipodistrofia generalizada congénita tipo 4","synonyms":["BSCL tipo 4","GCL4","Síndrome Berardinelli-Seip tipo 4"]},"pl":{"name":"Wrodzona lipodystrofia uogólniona z miopatią","synonyms":["GCL4","Wrodzona lipodystrofia uogólniona typu 4"]},"cs":{"name":"Vrozená generalizovaná lipodystrofie s myopatiií","synonyms":["GCL4","Generalizovaná vrozená lipodystrofie, typ 4"]},"uk":{"name":"Генералізована вроджена ліподистрофія з міопатією","synonyms":["GCL4","Генералізована вроджена ліподистрофія типу 4"]},"zh":{"name":"先天性全身性脂肪营养不良伴肌病","synonyms":["先天性全身性脂肪营养不良4型"]},"tr":{"name":"Miyopati ile seyreden jeneralize doğumsal lipodistrofi","synonyms":["GCL4","Jeneralize doğumsal lipodistrofi tip 4"]}},"xrefs":[{"source":"OMIM","code":"613327","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"13225","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2750069","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":528,"name":"Congenital generalized lipodystrophy","classifications":[147,156,181,187,193]}],"children":[],"genes":[{"symbol":"CAVIN1","name":"caveolae associated protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20684003[PMID]_27894728[PMID]","hgnc":"9688","ensembl":"ENSG00000177469","omim":"603198","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}