|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||Congenital disorder of metabolism|
|Gene||(CGL1) AGPAT2 [HSA:10555] [KO:K13509]
(CGL2) BSCL2 [HSA:26580] [KO:K19365]
(CGL3) CAV1 [HSA:857] [KO:K06278]
(CGL4) PTRF [HSA:284119] [KO:K19387]
|Other DBs||ICD-11: 5A44
OMIM: 269700 608594 612526 613327
AUTHORS Simha V, Garg A
TITLE Inherited lipodystrophies and hypertriglyceridemia.
JOURNAL Curr Opin Lipidol 20:300-8 (2009)
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)
AUTHORS Garg A, Agarwal AK
TITLE Lipodystrophies: disorders of adipose tissue biology.
JOURNAL Biochim Biophys Acta 1791:507-13 (2009)
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)