{"orpha":696189,"name":"Congenital generalized lipodystrophy type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["BSCL type 1","Berardinelli-Seip syndrome type 1","CGL1"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-696189/","orphanet_url":"https://www.orpha.net/en/disease/detail/696189","names":{"fr":{"name":"Lipodystrophie généralisée congénitale de type 1","synonyms":["BSCL type 1","LCG1","Syndrome de Berardinelli-Seip type 1"]},"de":{"name":"Lipodystrophie, generalisierte kongenitale, Typ 1","synonyms":["BSCL Typ 1","Berardinelli-Seip-Syndrom Typ 1","CGL1"]},"es":{"name":"Lipodistrofia congénita generalizada tipo 1","synonyms":["BSCL tipo 1","CGL1","LCG1","Síndrome de Berardinelli-Seip tipo 1"]},"it":{"name":"Lipodistrofia generalizzata congenita tipo 1","synonyms":["BSCL tipo 1","Sindrome di Berardinelli-Seip tipo 1","CGL1"]},"nl":{"name":"Congenitale gegeneraliseerde lipodystrofie type 1","synonyms":["BSCL type 1","CGL1","Syndroom van Berardinelli-Seip type 1"]},"pt":{"name":"Congenital generalized lipodystrophy type 1"},"pl":{"name":"Congenital generalized lipodystrophy type 1","synonyms":["BSCL type 1","Berardinelli-Seip syndrome type 1","CGL1"]},"cs":{"name":"Congenital generalized lipodystrophy type 1","synonyms":["BSCL type 1","Berardinelli-Seip syndrome type 1","CGL1"]}},"xrefs":[{"source":"OMIM","code":"603100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.1","qualifier":"NTBT","icd_relation":"attributed","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":"AGPAT2","name":"1-acylglycerol-3-phosphate O-acyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301391[PMID]","hgnc":"325","ensembl":"ENSG00000169692","omim":"603100","loci":["9q34.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":126.0,"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}