Warning: simplexml_load_file(http://api.omim.org/api/entry?mimNumber=608594&include=text:description&apiKey=nF1Y-SFBSLOjxS6VQpq65A): failed to open stream: HTTP request failed! HTTP/1.1 400 in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 485 Warning: simplexml_load_file(): I/O warning : failed to load external entity "http://api.omim.org/api/entry?mimNumber=608594&include=text:description&apiKey=nF1Y-SFBSLOjxS6VQpq65A" in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 485 Mito DB

Congenital generalized lipodystrophy type 1
Berardinelli-Seip syndrome 1

Contact us
Return to database

We were unfortunately unable to download the information for this disease from OMIM.

Prevalence of clinical parameters (%)

Add new symptom/sign to this disease

Select symptom from list or write it in the box
Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
Please provide your name and contact information as a reference
Name Institute Phone number Email address

List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hepatomegaly digestive 100 % 12362029 2014-05-29
Hypertriglyceridemia circulatory 100 % 12362029 2014-05-29
Lipodystrophy integumentary 100 % 12362029 2014-05-29
Muscle hypertrophy skeletal 100 % 12362029 2014-05-29
Hirsutism integumentary 100 % 23362058 2014-05-29
Acromegaly skeletal 100 % 23362058 2014-05-29
Hyperinsulinemia endocrine 67 % 23362058 2014-05-29
Diabetes mellitus type 2 endocrine 35 % 12362029 2014-05-29
Microalbuminuria urinary 33 % 23362058 2014-05-29
Increased blood transaminase circulatory 33 % 23362058 2014-05-29
Hypertrophic cardiomyopathy circulatory 24 % 12362029 2014-05-29
Bone cysts skeletal 24 % 12362029 2014-05-29
Mental retardation nervous 12 % 12362029 2014-05-29

List of references:

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
L Van Maldergem, J Magré, T E Khallouf, T Gedde-Dahl, M Delépine, O Trygstad, E Seemanova, T Stephenson, C S Albott, F Bonnici, V R Panz, J L Medina, P Bogalho, F Huet, S Savasta, A Verloes, J J Robert, H Loret, M De Kerdanet, N Tubiana-Rufi, A Mégarbané, J Maassen, M Polak, D Lacombe, C R Kahn, E L Silveira, F H D'Abronzo, F Grigorescu, M Lathrop, J Capeau, S O'Rahilly,

Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (BSCL1) has recently been identified, predominantly in African-American families. More recently, mutations in a previously undescribed gene of unknown function (BSCL2) on chromosome 11, termed seipin, have been found to be responsible for this disorder in a number of European and Middle Eastern families. We have studied the genotype/phenotype relationships in 70 affected subjects from 44 apparently unrelated pedigrees of diverse ethnic origin. In all subjects, hepatic dysfunction, hyperlipidaemia, diabetes mellitus, and hypertrophic cardiomyopathy were significant contributors to morbidity with no clear differences in their prevalence between subjects with BSCL1 or BSCL2 and those with evidence against cosegregation with either chromosome 9 or 11 (designated BSCLX). BSCL2 appears to be a more severe disorder than BSCL1 with a higher incidence of premature death and a lower prevalence of partial and/or delayed onset of lipodystrophy. Notably, subjects with BSCL2 had a significantly higher prevalence of intellectual impairment than those with BSCL1 or BSCLX (p<0.0001, OR 17.0, CI 3.6 to 79.0). The higher prevalence of intellectual impairment and the increased risk of premature death in BSCL2 compared to BSCL1 emphasise the importance of molecular diagnosis of this syndrome and have clear implications for genetic counselling.

Journal of medical genetics - Oct 2002

Berardinelli-Seip syndrome: highlight of treatment challenge.
Nélia Ferraria, Cristina Pedrosa, Daniela Amaral, Lurdes Lopes,

Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is a rare autosomal-recessive disease characterised by lipoatrophy and associated with deregulations of glycidic and lipid metabolism. We report three BSCL cases with its typical clinical picture and complications. Clinically, they all show marked atrophy of adipose tissue, acromegaly, acanthosis nigricans and tall stature. Two cases present attention deficit hyperactivity and developmental learning disorders; another patient has hypertrophic myocardiopathy and polycystic ovary syndrome. In all the cases AGPAT2 was the identified mutation. All the cases present hypertriglyceridemia. One case has developed hyperinsulinism controlled with metformin and another case already has type 2 diabetes with a difficult clinical control. There is no curative treatment and the current treatment options are based only on symptomatic control of the complications. Recently, published studies showed that leptin-replacement therapy appears a promising tool in the metabolic correction of BSCL complications, highlighting the importance of further investigations in BSCL treatment.

BMJ case reports - Jan 2013

Warning: Use of undefined constant jump - assumed 'jump' (this will throw an Error in a future version of PHP) in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 715