KEGG   DISEASE: Congenital generalized lipodystrophy
Entry
H00419                      Disease                                

Name
Congenital generalized lipodystrophy
  Supergrp
Lipodystrophy [DS:H01475]
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
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H00419  Congenital generalized lipodystrophy
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Other disorders of glucose regulation or pancreatic internal secretion
    5A44  Insulin-resistance syndromes
     H00419  Congenital generalized lipodystrophy
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
ICD-10: E88.1
MeSH: D052497
OMIM: 269700 608594 612526 613327
Reference
  Authors
Simha V, Garg A
  Title
Inherited lipodystrophies and hypertriglyceridemia.
  Journal
Curr Opin Lipidol 20:300-8 (2009)
DOI:10.1097/MOL.0b013e32832d4a33
Reference
  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
Reference
  Authors
Garg A, Agarwal AK
  Title
Lipodystrophies: disorders of adipose tissue biology.
  Journal
Biochim Biophys Acta 1791:507-13 (2009)
DOI:10.1016/j.bbalip.2008.12.014
Reference
  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
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