{"orpha":528,"name":"Congenital generalized lipodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BSCL","Berardinelli-Seip congenital lipodystrophy","Berardinelli-Seip syndrome","CGL"],"definition":"A rare autosomal recessive form of lipodystrophy characterized by the association of generalized lipoatrophy with acromegaloid features, muscle hypertrophy, insulin resistance, hypertriglyceridemia, and liver steatosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-528/","orphanet_url":"https://www.orpha.net/en/disease/detail/528","names":{"fr":{"name":"Lipodystrophie généralisée congénitale","synonyms":["LGC","Lipodystrophie congénitale de Berardinelli-Seip","Syndrome de Berardinelli-Seip","LCBS"],"definition":"Forme autosomique récessive rare de lipodystrophie caractérisée par l'association d'une lipoatrophie généralisée avec un aspect acromégaloïde, une hypertrophie musculaire, une résistance à l'insuline, une hypertriglycéridémie et une stéatose hépatique."},"de":{"name":"Lipodystrophie, generalisierte kongenitale","synonyms":["BSCL","Berardinelli-Seip-Syndrom","CGL","Lipodystrophie, kongenitale, Typ Berardinelli-Seip"],"definition":"Eine seltene autosomal-rezessive Form der Lipodystrophie, die durch die Assoziation einer generalisierten Lipoatrophie mit akromegaloiden Merkmalen, Muskelhypertrophie, Insulinresistenz, Hypertriglyceridämie und Lebersteatose gekennzeichnet ist."},"es":{"name":"Lipodistrofia congénita generalizada","synonyms":["BSCL","CGL","Lipodistrofia congénita de Beradinelli-Seip","Síndrome de Beradinelli-Seip"],"definition":"Es una forma de lipodistrofia autosómica recesiva poco frecuente caracterizada por la asociación de lipoatrofia generalizada con rasgos acromegaloides, hipertrofia muscular, resistencia a la insulina, hipertrigliceridemia y esteatosis hepática."},"it":{"name":"Lipodistrofia generalizzata congenita","synonyms":["BSCL","Diabete lipoatrofico","GCL","Lipodistrofia congenita di Berardinelli-Seip","Sindrome di Berardinelli-Seip"],"definition":"La lipodistrofia generalizzata congenita (CGL) è una forma rara di lipodistrofia, a trasmissione autosomica recessiva, caratterizzata da lipoatrofia generalizzata, tratti acromegaloidi, ipertrofia muscolare, resistenza all'insulina, ipertrigliceridemia e steatosi epatica."},"nl":{"name":"Congenitale gegeneraliseerde lipodystrofie","synonyms":["BSCL","CGL","Congenitale lipodystrofie van Berardinelli-Seip","Syndroom van Beradinelli-Seip"],"definition":"Een zeldzame autosomaal recessieve vorm van lipodystrofie, gekarakteriseerd door de associatie van gegeneraliseerde lipoatrofie met acromegaloïde kenmerken, spierhypertrofie, insulineresistentie, hypertriglyceridemie, en leversteatose."},"pt":{"name":"Lipodistrofia generalizada congénita","synonyms":["BSCL","CGL","Lipodistrofia congénita Berardinelli-Seip","Síndrome Berardinelli-Seip"],"definition":"A lipodistrofia congénita de Berardinelli-Seip (BSCL) é caracterizada pela associação de lipoatrofia, hipertrigliceridemia, hepatomegalia e características acromegalóides. A BSCL pertence ao grupo dos síndromes de resistência extrema à insulina, que também inclui leprechaunismo, síndrome de Rabson-Mendenhall, lipodistrofia generalizada adquirida, e resistência à insulina tipos A e B (ver estes termos)."},"pl":{"name":"Wrodzona lipodystrofia Berardinelligo i Seipa","synonyms":["Cukrzyca lipoatroficzna","Uogólniona wrodzona lipodystrofia","Zespół Beradinelliego i Seipa","Zespół Brunzella"]},"cs":{"name":"Berardinelliova-Seipova vrozená lipodystrofie","synonyms":["BSCL","GCL","Vrozená generalizovaná lipodystrofie","Lipoatrofický diabetes","Berardinelliův-Seipův syndrom","Berardinelli-Seipova vrozená lipodystrofie","Berardinelli-Seipův syndrom"]},"uk":{"name":"Вроджена генералізована ліподистрофія","synonyms":["Вроджена ліподистрофія Берардінеллі-Сейпа","Синдром Берардінеллі-Сейпа","BSCL","CGL","Ліпоатрофічний діабет"],"definition":"A rare autosomal recessive form of lipodystrophy characterized by the association of generalized lipoatrophy with acromegaloid features, muscle hypertrophy, insulin resistance, hypertriglyceridemia, and liver steatosis."},"zh":{"name":"Berardinelli-Seip先天性脂肪营养不良","synonyms":["全身性先天性脂肪营养不良"]},"tr":{"name":"Berardinelli-Seip doğumsal lipodistrofi","synonyms":["GCL","BSCL","Lipoatrofik diyabet","Berardinelli-Seip sendromu","Jeneralize doğumsal lipodistrofi"]}},"xrefs":[{"source":"OMIM","code":"269700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606721","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608594","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612526","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613327","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.60","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"641763399"},{"source":"MONDO","code":"0018883","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D052497","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221032","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13388","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053547","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1060,"name":"Systemic cystic angiomatosis-Seip syndrome","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":98305,"name":"Genetic lipodystrophy","classifications":[156,187,193]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]},{"orpha":181368,"name":"Rare insulin-resistance syndrome","classifications":[156,193]}],"children":[{"orpha":696189,"name":"Congenital generalized lipodystrophy type 1","type":"Clinical subtype"},{"orpha":696289,"name":"Congenital generalized lipodystrophy type 2","type":"Clinical subtype"},{"orpha":696206,"name":"Congenital generalized lipodystrophy type 3","type":"Clinical subtype"},{"orpha":228429,"name":"Congenital generalized lipodystrophy type 4","type":"Clinical subtype"},{"orpha":696242,"name":"PPARG-associated congenital generalized lipodystrophy","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":696189,"name":"Congenital generalized lipodystrophy type 1"}},{"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"],"via":{"orpha":696289,"name":"Congenital generalized lipodystrophy type 2"}},{"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"],"via":{"orpha":696206,"name":"Congenital generalized lipodystrophy type 3"}},{"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"],"via":{"orpha":228429,"name":"Congenital generalized lipodystrophy type 4"}},{"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"],"via":{"orpha":696242,"name":"PPARG-associated congenital generalized lipodystrophy"}}],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"European Medicines Agency 2012[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.01,"area":"United States","status":"Validated","source":"16722806[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.86,"area":"Peru","status":"Validated","source":"32201678[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Norway","status":"Validated","source":"https://www.ncbi.nlm.nih.gov/books/NBK1212/"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Lebanon","status":"Validated","source":"https://www.ncbi.nlm.nih.gov/books/NBK1212/"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Portugal","status":"Validated","source":"https://www.ncbi.nlm.nih.gov/books/NBK1212/"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Oman","status":"Validated","source":"15767751[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6812,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Turkey","status":"Validated","source":"27144933[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.23,"area":"Brazil","status":"Validated","source":"35209917[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-19","source":"20301391[PMID]_31724546[PMID]_29690976[PMID]","terms":[{"hpo":"HP:0008887","label":"Adipose tissue loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012062","label":"Bone cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030796","label":"Increased C-peptide level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003247","label":"Overgrowth of external genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001015","label":"Prominent superficial veins","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011407","label":"Proportionate tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010465","label":"Precocious puberty in females","frequency":"Very rare (<4-1%)","criteria":null}]}}