KEGG DISEASE: Congenital generalized lipodystrophy

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

Inherited metabolic disorder

Brite

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) CAVIN1 [HSA:284119] [KO:K19387]
(CGL5) PCYT1A [HSA:5130] [KO:K00968]

Other DBs

ICD-11:

MeSH:

OMIM:

608594 269700 612526 613327 620680

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

PMID:11967537 (CGL1)

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

Reference

PMID:19041432 (CGL2)

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

Reference

PMID:18211975 (CGL3)

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

Reference

PMID:19726876 (CGL4)

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

Reference

PMID:24889630 (CGL5)

Authors

Payne F, Lim K, Girousse A, Brown RJ, Kory N, Robbins A, Xue Y, Sleigh A, Cochran E, Adams C, Dev Borman A, Russel-Jones D, Gorden P, Semple RK, Saudek V, O'Rahilly S, Walther TC, Barroso I, Savage DB

Title

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.

Journal

Proc Natl Acad Sci U S A 111:8901-6 (2014)
DOI:10.1073/pnas.1408523111

LinkDB

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