H00419 | |
H number | H00419 |
Name | Congenital generalized lipodystrophy |
Description | Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by near total absence of adipose tissue from birth. Several metabolic alterations in carbohydrate (diabetes mellitus) and lipid metabolism and involvement of heart, bone and ovaries are also observed in this disease. Patients typically have low serum levels of leptin and adiponectin. Several genes were studied to identify the molecular alteration responsible for CGL, which have been found to contribute to lipid droplet formation in adipocytes. |
Category | Inherited metabolic disorder |
Network | - |
Gene | (CGL1) AGPAT2 [HSA:10555] [KO:K13509] (CGL2) BSCL2 [HSA:26580] [KO:K19365] (CGL3) CAV1 [HSA:857] [KO:K06278] (CGL4) CAVIN1 [HSA:284119] [KO:K19387] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5A44 ICD-10: E88.1 MeSH: D052497 OMIM: 608594 269700 612526 613327 |
Reference | PMID:19494770 AUTHORS Simha V, Garg A TITLE Inherited lipodystrophies and hypertriglyceridemia. JOURNAL Curr Opin Lipidol 20:300-8 (2009) DOI:10.1097/MOL.0b013e32832d4a33 PMID:19167372 AUTHORS Gomes KB, Pardini VC, Fernandes AP TITLE Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL). JOURNAL Clin Chim Acta 402:1-6 (2009) DOI:10.1016/j.cca.2008.12.032 PMID:11967537 (AGPAT2) AUTHORS Agarwal AK, Arioglu E, De Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A TITLE AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. JOURNAL Nat Genet 31:21-3 (2002) DOI:10.1038/ng880 PMID:19041432 (BSCL2) AUTHORS Friguls B, Coroleu W, del Alcazar R, Hilbert P, Van Maldergem L, Pintos-Morell G TITLE Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. JOURNAL Eur J Med Genet 52:14-6 (2009) DOI:10.1016/j.ejmg.2008.10.006 PMID:18211975 (CAV1) AUTHORS Kim CA, Delepine M, Boutet E, El Mourabit H, Le Lay S, Meier M, Nemani M, Bridel E, Leite CC, Bertola DR, Semple RK, O'Rahilly S, Dugail I, Capeau J, Lathrop M, Magre J TITLE Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. JOURNAL J Clin Endocrinol Metab 93:1129-34 (2008) DOI:10.1210/jc.2007-1328 PMID:19726876 (CAVIN1) AUTHORS Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I TITLE Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. JOURNAL J Clin Invest 119:2623-33 (2009) DOI:10.1172/JCI38660 |