Berardinelli-Seip syndrome

Common Name(s)

Berardinelli-Seip syndrome, 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 "Berardinelli-Seip syndrome" 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 "Berardinelli-Seip syndrome" returned 8 free, full-text research articles on human participants. First 3 results:

Do you know this syndrome? Berardinelli-Seip syndrome.
 

Author(s): Pedro Vale Machado, Egon Luiz Rodrigues Daxbacher, Daniel Lago Obadia, Edna Ferreira da Cunha, Maria de Fátima Guimarães Scotelaro Alves, Danielle Mann

Journal: An Bras Dermatol. ;88(6):1011-3.

 

Berardinelli-Seip syndrome is a rare autosomal recessive disease characterized by inadequate metabolism and inefficient storing of lipids in fat cells, generating accumulation of fat in organs such as the liver, spleen, pancreas, heart, arterial endothelium and skin. Classically, ...

Last Updated: 29 Jan 2014

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[Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].
 

Author(s): Cristiane B Barra, Roberta D Savoldelli, Thais D Manna, Chong A Kim, Jocelyn Magre, Gilda Porta, Nuvarte Setian, Durval Damiani

Journal: Arq Bras Endocrinol Metabol. 2011 Feb;55(1):54-9.

 

To report the genetic and metabolic profile of patients with Berardinelli-Seip syndrome (BSCL) followed at Instituto da Criança, HC-FMUSP.

Last Updated: 6 Apr 2011

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[Congenital generalized lipodystrophy versus Berardinelli-Seip syndrome].
 

Author(s): D Araújo-Vilar

Journal: An Pediatr (Barc). 2011 Jun;74(6):423-4; author reply 424-6.

 

Last Updated: 31 May 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Berardinelli-Seip syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome).
 

Author(s): R F Viégas, R V Diniz, T M Viégas, E B Lira, D R Almeida

Journal: Arq. Bras. Cardiol.. 2000 Sep;75(3):243-8.

 

Total generalized lipodystrophy (Berardinelli - Seip Syndrome) is a rare hereditary disease characterized by insulin-resistant diabetes mellitus and a small quantity of adipose tissue and is of unknown origin. Common cardiovascular alterations related to this syndrome are cardiac ...

Last Updated: 30 Oct 2000

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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