{"orpha":696289,"name":"Congenital generalized lipodystrophy type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["BSCL type 2","Berardinelli-Seip syndrome type 2","CGL2"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-696289/","orphanet_url":"https://www.orpha.net/en/disease/detail/696289","names":{"fr":{"name":"Lipodystrophie généralisée congénitale de type 2","synonyms":["BSCL type 2","LCG2","Syndrome de Berardinelli-Seip type 2"]},"de":{"name":"Lipodystrophie, generalisierte kongenitale, Typ 2","synonyms":["BSCL Typ 2","Berardinelli-Seip-Syndrom Typ 2","CGL2"]},"es":{"name":"Lipodistrofia congénita generalizada tipo 2","synonyms":["BSCL tipo 2","CGL2","LCG2","Síndrome de Berardinelli-Seip tipo 2"]},"it":{"name":"Lipodistrofia generalizzata congenita tipo 2","synonyms":["BSCL tipo 2","Sindrome di Berardinelli-Seip tipo 2","CGL2"]},"nl":{"name":"Congenitale gegeneraliseerde lipodystrofie type 2","synonyms":["BSCL type 2","CGL2","Syndroom van Berardinelli-Seip type 2"]},"pt":{"name":"Congenital generalized lipodystrophy type 2"},"pl":{"name":"Congenital generalized lipodystrophy type 2","synonyms":["BSCL type 2","Berardinelli-Seip syndrome type 2","CGL2"]},"cs":{"name":"Congenital generalized lipodystrophy type 2","synonyms":["BSCL type 2","Berardinelli-Seip syndrome type 2","CGL2"]}},"xrefs":[{"source":"OMIM","code":"269700","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":"BSCL2","name":"BSCL2 lipid droplet biogenesis associated, seipin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301391[PMID]","hgnc":"15832","ensembl":"ENSG00000168000","omim":"606158","loci":["11q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":500.0,"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}