Congenital Generalized Lipodystrophy Type 1

Common Name(s)

Congenital Generalized Lipodystrophy Type 1

Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia ({11:Garg, 2004}). Genetic Heterogeneity of Congenital Generalized Lipodystrophy Congenital generalized lipodystrophy type 2 ({269700}) is caused by mutation in the BSCL2 gene ({606158}). Congenital generalized lipodystrophy type 3 ({612526}) is caused by mutation in the CAV1 gene ({601047}). Congenital generalized lipodystrophy type 4 ({613327}) is caused by mutation in the PTRF gene ({603198}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Generalized Lipodystrophy Type 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Generalized Lipodystrophy Type 1" returned 1 free, full-text research articles on human participants. First 3 results:

Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1.
 

Author(s): Amirreza Haghighi, Maryam Razzaghy-Azar, Ali Talea, Mahnaz Sadeghian, Sian Ellard, Alireza Haghighi

Journal: Eur J Med Genet. 2012 Nov;55(11):620-4.

 

Congenital generalized lipodystrophy (CGL) is an autosomal recessive disease characterized by the generalized scant of adipose tissue. CGL type 1 is caused by mutations in gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2). A clinical and molecular genetic investigation ...

Last Updated: 8 Oct 2012

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Reviews from the PubMed Database

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The terms "Congenital Generalized Lipodystrophy Type 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.