{"orpha":696242,"name":"PPARG-associated congenital generalized lipodystrophy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Berardinelli-Seip syndrome associated to PPARG"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-696242/","orphanet_url":"https://www.orpha.net/en/disease/detail/696242","names":{"fr":{"name":"Lipodystrophie congénitale généralisée associée à PPARG","synonyms":["Syndrome de Berardinelli-Seip associée à PPARG"]},"de":{"name":"PPARG-assoziierte angeborene generalisierte Lipodystrophie","synonyms":["Berardinelli-Seip-Syndrom, PPARG-assoziiertes"]},"es":{"name":"Lipodistrofia congénita generalizada asociada a PPARG","synonyms":["Síndrome de Berardinelli-Seip asociado a PPARG"]},"it":{"name":"Lipodistrofia generalizzata congenita correlata a PPARG","synonyms":["Sindrome di Berardinelli-Seip correlata a PPARG"]},"nl":{"name":"PPARG-geassocieerde congenitale gegeneraliseerde lipodystrofie","synonyms":["Syndroom van Berardinelli-Seip geassocieerd met PPARG"]},"pt":{"name":"PPARG-associated congenital generalized lipodystrophy"},"pl":{"name":"PPARG-associated congenital generalized lipodystrophy","synonyms":["Berardinelli-Seip syndrome associated to PPARG"]},"cs":{"name":"PPARG-associated congenital generalized lipodystrophy","synonyms":["Berardinelli-Seip syndrome associated to PPARG"]}},"xrefs":[{"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":"PPARG","name":"peroxisome proliferator activated receptor gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24980513[PMID]_36806620[PMID]","hgnc":"9236","ensembl":"ENSG00000132170","omim":"601487","loci":["3p25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}