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}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Berardinelli-Seip syndrome" for support, advocacy or research.

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Lipodystrophy United

​Lipodystrophy United is an organization of committed individuals living strong with Lipodystrophy. Our mission is to provide an interactive community, facilitating support & education for anyone affected by this rare disease. We serve as a resource & to increase awareness in the general population as well as the medical & insurance communities. We advocate & act as a catalyst for new patient diagnosis by assisting healthcare professionals in understanding Lipodystrophy trends, physical attributes & clinical symptoms in order to aid in the advancement of knowledge, treatment & future research.

Last Updated: 30 Nov 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Berardinelli-Seip syndrome" for support, advocacy or research.

Logo
Lipodystrophy United

​Lipodystrophy United is an organization of committed individuals living strong with Lipodystrophy. Our mission is to provide an interactive community, facilitating support & education for anyone affected by this rare disease. We serve as a resource & to increase awareness in the general population as well as the medical & insurance communities. We advocate & act as a catalyst for new patient diagnosis by assisting healthcare professionals in understanding Lipodystrophy trends, physical attributes & clinical symptoms in order to aid in the advancement of knowledge, treatment & future research.

http://www.lipodystrophyunited.org/

Last Updated: 30 Nov 2014

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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 11 free, full-text research articles on human participants. First 3 results:

High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
 

Author(s): Nelson Purizaca-Rosillo, Takayasu Mori, Yamali Benites-Cóndor, Fuki M Hisama, George M Martin, Junko Oshima

Journal: Am. J. Med. Genet. A. 2017 Feb;173(2):471-478.

 

Congenital generalized lipodystrophy (CGL) is a genetically heterogeneous group of disorders characterized by the absence of functional adipose tissue. We identified two pedigrees with CGL in the community of the Mestizo tribe in the northern region of Peru. Five cases, ranging from ...

Last Updated: 31 Dec 1969

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Pseudoacromegaly in congenital generalised lipodystrophy (Berardinelli-Seip syndrome).
 

Author(s): Partha Pratim Chakraborty, Saumik Datta, Satinath Mukhopadhyay, Subhankar Chowdhury

Journal:

 

Pseudoacromegaly, or acromegaloidism, is characterised by a clinical appearance mimicking acromegaly in the absence of documented hypersomatotropism or past exposure to excess growth hormone. It can develop secondary to a number of congenital and acquired conditions of which severe ...

Last Updated: 31 Dec 1969

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Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?
 

Author(s): Rachel J van der Pol, Marc A Benninga, Jocelyne Magré, Lionel Van Maldergem, Joost Rotteveel, Marjo S van der Knaap, Tim G de Meij

Journal: Eur. J. Pediatr.. 2015 Jul;174(7):975-80.

 

Berardinelli-Seip congenital lipodystrophy (BSCL) is an uncommon autosomal recessive disorder. Patients with BSCL present with a distinct phenotype since subcutaneous fat is largely lacking and musculature has become more prominent. During childhood, diabetes and acanthosis nigricans ...

Last Updated: 31 Dec 1969

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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 2 free, full-text review articles on human participants. First 3 results:

Berardinelli-Seip syndrome in peritoneal dialysis.
 

Author(s): José Joaquín Bande-Fernández, Raúl García-Castro, José Emilio Sánchez-Alvarez, Carmen Rodríguez-Suárez, Diego Coronel-Aguilar, Carlos Hidalgo, Beatriz Istanbuli, Carmen Merino-Bueno, Laura Del Rio-García

Journal: Nefrologia. 2015 ;35(5):493-6.

 

A case of Berardinelli-Seip syndrome, a congenital generalised lipodystrophy, is reported. Symptoms first appeared when the patient was 20 years old. She showed severe insulin resistance as well as micro- and macro-angiopathic complications, including chronic kidney disease, which ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Registry for Patients With Lipodystrophy
 

Status: Recruiting

Condition Summary: Lipodystrophy Acquired; Lipodystrophy Congenital

 

Last Updated: 11 Jun 2018

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Lipodystrophy Connect Patient Registry
 

Status: Recruiting

Condition Summary: Lipodystrophy

 

Last Updated: 11 May 2018

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Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL)
 

Status: Not yet recruiting

Condition Summary: Familial Partial Lipodystrophy

 

Last Updated: 21 Apr 2018

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