{"orpha":696206,"name":"Congenital generalized lipodystrophy type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["BSCL type 3","Berardinelli-Seip syndrome type 3","CGL3"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-696206/","orphanet_url":"https://www.orpha.net/en/disease/detail/696206","names":{"fr":{"name":"Lipodystrophie généralisée congénitale de type 3","synonyms":["BSCL type 3","LCG3","Syndrome de Berardinelli-Seip type 3"]},"de":{"name":"Lipodystrophie, generalisierte kongenitale, Typ 3","synonyms":["BSCL Typ 3","Berardinelli-Seip-Syndrom Typ 3","CGL3"]},"es":{"name":"Lipodistrofia congénita generalizada tipo 3","synonyms":["BSCL tipo 3","CGL3","LCG3","Síndrome de Berardinelli-Seip tipo 3"]},"it":{"name":"Lipodistrofia generalizzata congenita tipo 3","synonyms":["BSCL tipo 3","Sindrome di Berardinelli-Seip tipo 3","CGL3"]},"nl":{"name":"Congenitale gegeneraliseerde lipodystrofie type 3","synonyms":["BSCL type 3","CGL3","Syndroom van Berardinelli-Seip type 3"]},"pt":{"name":"Congenital generalized lipodystrophy type 3"},"pl":{"name":"Congenital generalized lipodystrophy type 3","synonyms":["BSCL type 3","Berardinelli-Seip syndrome type 3","CGL3"]},"cs":{"name":"Congenital generalized lipodystrophy type 3","synonyms":["BSCL type 3","Berardinelli-Seip syndrome type 3","CGL3"]}},"xrefs":[{"source":"OMIM","code":"612526","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.1","qualifier":"NTBT","icd_relation":"attributed","validated":false}],"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":"CAV1","name":"caveolin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18211975[PMID]","hgnc":"1527","ensembl":"ENSG00000105974","omim":"601047","loci":["7q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"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":null}