BSCL
MCID: BRR012
MIFTS: 50

Berardinelli-Seip Congenital Lipodystrophy (BSCL) malady

Genetic diseases (common) category

Summaries for Berardinelli-Seip Congenital Lipodystrophy

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Genetics Home Reference:22 Berardinelli-Seip congenital lipodystrophy is a rare condition characterized by a lack of fatty (adipose) tissue in the body. This lack of adipose tissue means that fats must be stored elsewhere in the body, such as in the liver and muscles. The abnormal handling and storage of fats leads to serious medical problems.

MalaCards based summary: Berardinelli-Seip Congenital Lipodystrophy, also known as lipodystrophy, congenital generalized, is related to acquired generalized lipodystrophy and lipodystrophy. An important gene associated with Berardinelli-Seip Congenital Lipodystrophy is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)), and among its related pathways are Adipocytokine signaling pathway and Fatty acid, triacylglycerol, and ketone body metabolism. The compounds poly(glu(80)tyr(20)) and chromium picolinate have been mentioned in the context of this disorder. Affiliated tissues include liver and adipocyte, and related mouse phenotypes are respiratory system and skeleton.

GeneReviews summary for bscl

Aliases & Classifications for Berardinelli-Seip Congenital Lipodystrophy

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Berardinelli-Seip Congenital Lipodystrophy, Aliases & Descriptions:

Name: Berardinelli-Seip Congenital Lipodystrophy 20 21 23 22 61
Lipodystrophy, Congenital Generalized 22 44 61
Congenital Generalized Lipodystrophy 20 22
Total Lipodystrophy 22 61
Brunzell Syndrome 22 61
Berardinelli-Seip Congenital Generalized Lipodystrophy 20
 
Familial Generalized Lipodystrophy 61
Berardinelli-Seip Syndrome 22
Generalized Lipodystrophy 22
Seip's Syndrome 61
Seip Syndrome 22
Bscl 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Berardinelli-Seip Congenital Lipodystrophy

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Diseases related to Berardinelli-Seip Congenital Lipodystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1acquired generalized lipodystrophy30.8ADIPOQ, LEP
2lipodystrophy30.3AGPAT2, ADIPOQ, LMNA, LEP, INSR, INS
3growth hormone deficiency29.9ADIPOQ, LEP, INS
4congenital generalized lipodystrophy type 229.8LMNA, LEP, INSR, INS, BSCL2, ADIPOQ
5diabetes mellitus29.4BSCL2, INS, INSR, LEP, LMNA, ADIPOQ
6insulin resistance29.3BSCL2, INS, INSR, LEP, LMNA, ADIPOQ
7type 2 diabetes mellitus29.1INS, INSR, LEP, LMNA, ADIPOQ
8acanthosis nigricans28.7BSCL2, INS, INSR, LEP, LMNA, ADIPOQ
9congenital generalized lipodystrophy11.1
10congenital generalized lipodystrophy type 110.7
11dystonia10.5
12congenital generalized lipodystrophy type 410.5
13congenital generalized lipodystrophy type 310.5
14mandibuloacral dysplasia10.5LMNA
15distal hereditary motor neuropathy10.4AGPAT2
16hyperinsulinemic hypoglycemia10.4INS
17systemic cystic angiomatosis - seip syndrome10.3
18lipoatrophic diabetes10.3
19fetal macrosomia10.2LEP, INS
20panniculitis10.2
21anovulation10.2INS, LEP
22eating disorder10.2LEP, INS
23amenorrhea10.2LEP, INS
24prediabetes syndrome10.1ADIPOQ, INS
25obstructive sleep apnea10.1ADIPOQ, LEP
26dilated cardiomyopathy10.1
27gas gangrene10.1
28hepatitis10.1
29multiple sclerosis10.1
30myocardial infarction10.1
31lafora disease10.1
32amyloidosis10.1
33cervicitis10.1
34long qt syndrome10.1
35muscular dystrophy10.1
36myopathy10.1
37mental retardation10.1
38angiomatosis10.1
39short stature10.1
40encephalopathy, progressive, with or without lipodystrophy10.1
41morbid obesity10.1INS, LEP
42idiopathic edema10.1INS, ADIPOQ
43hypopituitarism10.1LEP, INS
44periodontitis10.1
45hypothyroidism10.1LEP, ADIPOQ
46rabson-mendenhall syndrome10.1INSR, INS
47familial combined hyperlipidemia10.1ADIPOQ, INS
48cockayne syndrome10.1
49cytophagic histiocytic panniculitis10.1
50donohue syndrome10.1INSR, INS

Graphical network of the top 20 diseases related to Berardinelli-Seip Congenital Lipodystrophy:



Diseases related to berardinelli-seip congenital lipodystrophy

Symptoms for Berardinelli-Seip Congenital Lipodystrophy

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Drugs & Therapeutics for Berardinelli-Seip Congenital Lipodystrophy

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Drug clinical trials:

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Genetic Tests for Berardinelli-Seip Congenital Lipodystrophy

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Genetic tests related to Berardinelli-Seip Congenital Lipodystrophy:

id Genetic test Affiliating Genes
1 Berardinelli-Seip Congenital Lipodystrophy21 23 BSCL2

Anatomical Context for Berardinelli-Seip Congenital Lipodystrophy

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MalaCards organs/tissues related to Berardinelli-Seip Congenital Lipodystrophy:

32
Liver, Adipocyte

Animal Models for Berardinelli-Seip Congenital Lipodystrophy or affiliated genes

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Publications for Berardinelli-Seip Congenital Lipodystrophy

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Articles related to Berardinelli-Seip Congenital Lipodystrophy:

(show all 23)
idTitleAuthorsYear
1
Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps. (24825083)
2014
2
An incidental finding of striking muscular hypertrophy leading to a diagnosis of Berardinelli Seip Congenital Lipodystrophy. (24023365)
2013
3
AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome. (23337016)
2013
4
Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. (22269949)
2012
5
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin. (20236991)
2010
6
Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency. (20097706)
2010
7
Early course of Berardinelli-Seip congenital lipodystrophy (BSCL). (20301053)
2010
8
Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL). (19167372)
2009
9
Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene. (19762912)
2009
10
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. (19574402)
2009
11
Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. (19278620)
2009
12
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. (19041432)
2009
13
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. (18211975)
2008
14
Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil. (17535271)
2007
15
Berardinelli-Seip congenital lipodystrophy. (16735770)
2006
16
Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. (16435205)
2005
17
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. (15732094)
2005
18
Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. (14715872)
2004
19
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. (15181077)
2004
20
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. (12362029)
2002
21
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci. (11916958)
2002
22
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. (11479539)
2001
23
Berardinelli-Seip Congenital Lipodystrophy (20301391)
1993

Variations for Berardinelli-Seip Congenital Lipodystrophy

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Expression for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

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Expression patterns in normal tissues for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

Search GEO for disease gene expression data for Berardinelli-Seip Congenital Lipodystrophy.

Pathways for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

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Pathways related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5ADIPOQ, LEP
2
Show member pathways
9.1AGPAT2, ADIPOQ, LEP
39.0INSR, INS
49.0INSR, INS
59.0INS, INSR
69.0INSR, INS
79.0INSR, INS
89.0INSR, INS
98.9ADIPOQ, LEP, INSR
10
Show member pathways
Insulin Pathway37
8.7INS, INSR, CAV1
11
Show member pathways
8.7INS, LEP, ADIPOQ
128.6INS, INSR, LEP
13
Show member pathways
8.6LEP, INSR, INS
148.5INS, INSR, ADIPOQ
15
Show member pathways
8.5ADIPOQ, INSR, INS
168.2INS, INSR, LEP, CAV1
17
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes59
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway59
8.1ADIPOQ, LEP, INSR, INS
18
Show member pathways
8.1INS, INSR, LEP, ADIPOQ
197.6AGPAT2, ADIPOQ, LMNA, LEP, INS, BSCL2

Compounds for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

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Compounds related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 93)
idCompoundScoreTop Affiliating Genes
1poly(glu(80)tyr(20))449.4INS, INSR
2chromium picolinate449.3INS, INSR
3sibutramine44 1210.1INS, LEP, ADIPOQ
4acipimox44 2910.1INS, LEP, ADIPOQ
5nash449.1INS, LEP, ADIPOQ
6telmisartan44 29 1211.1INS, LEP, ADIPOQ
7orlistat44 60 1211.0ADIPOQ, LEP, INS
8thiazolidinedione449.0ADIPOQ, LEP, INS
98-isoprostane449.0INS, LEP, ADIPOQ
10dehydroepiandrosterone sulfate449.0INS, LEP, ADIPOQ
11gliclazide44 50 1210.9INS, INSR, ADIPOQ
12glimepiride44 50 1210.9INS, INSR, ADIPOQ
13prostacyclin448.9INSR, LEP, ADIPOQ, CAV1
14streptozotocin448.8ADIPOQ, INSR, INS
15olanzapine44 50 29 25 1212.8INS, LEP, ADIPOQ
162-deoxyglucose44 129.8ADIPOQ, INSR, INS
17dhea448.7ADIPOQ, LEP, INS
18triacylglycerol448.7INS, LEP, ADIPOQ, AGPAT2
19mecasermin44 129.7INS, INSR
20octreotide44 60 29 1211.7ADIPOQ, INSR, INS
21acetylcholine44 50 29 25 1212.7INSR, LEP, ADIPOQ, CAV1
22uric acid44 259.7ADIPOQ, LEP, INS
23palmitate448.6CAV1, ADIPOQ, INSR, INS
24androstenedione44 259.6ADIPOQ, LEP, INS
25aicar44 25 1210.5INS, INSR, LEP, ADIPOQ
26fenofibrate44 50 1210.5INS, INSR, LEP, ADIPOQ
27glibenclamide44 29 50 6011.5ADIPOQ, LEP, INSR, INS
28c-peptide448.5INS, INSR, LEP, ADIPOQ
29metformin44 50 1210.5INS, INSR, LEP, ADIPOQ
30pioglitazone29 44 50 1211.5ADIPOQ, LEP, INSR, INS
31troglitazone44 29 60 1211.5INS, INSR, LEP, ADIPOQ
32carbohydrates448.4ADIPOQ, LEP, INSR, INS
33thyroxine44 259.4INS, INSR, LEP, ADIPOQ
34glycerol44 25 1210.4INS, INSR, LEP, ADIPOQ
35cholesterol44 29 25 1211.3CAV1, ADIPOQ, LMNA, LEP, INS
36rapamycin448.2ADIPOQ, LEP, INSR, INS
37ly294002448.1CAV1, ADIPOQ, LEP, INSR, INS
38wortmannin448.1INS, INSR, LEP, ADIPOQ, CAV1
39testosterone44 60 25 1211.1CAV1, ADIPOQ, LEP, INSR, INS
40dexamethasone44 50 29 1211.0INS, INSR, LEP, ADIPOQ, CAV1
41creatinine448.0INS, INSR, LEP, LMNA, ADIPOQ
42alanine448.0INS, INSR, LMNA, ADIPOQ, CAV1
43phosphatidylinositol448.0INS, INSR, LEP, ADIPOQ, CAV1
44glutamate448.0INS, INSR, LEP, ADIPOQ, CAV1
45rosiglitazone29 44 50 25 1211.8CAV1, ADIPOQ, LMNA, LEP, INSR, INS
46arginine447.7INS, INSR, LEP, LMNA, ADIPOQ, CAV1
47estrogen447.7INS, INSR, LEP, ADIPOQ, CAV1
48glucose447.7INS, INSR, LEP, LMNA, ADIPOQ, CAV1
49serine447.6INS, INSR, LEP, LMNA, ADIPOQ, CAV1
50lipid447.4INS, INSR, LEP, LMNA, ADIPOQ, CAV1

GO Terms for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

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Cellular components related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:0059019.5CAV1, INSR

Biological processes related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards/GeneDecks:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1lipid storageGO:01991510.1CAV1, BSCL2
2positive regulation of cytokine productionGO:0018199.9AGPAT2, LEP
3membrane depolarizationGO:0518999.8ADIPOQ, CAV1
4positive regulation of developmental growthGO:0486399.8LEP, INSR
5negative regulation of lipid catabolic processGO:0509959.6INS, BSCL2
6circadian rhythmGO:0076239.6ADIPOQ, LEP
7positive regulation of insulin receptor signaling pathwayGO:0466289.5INS, LEP
8negative regulation of gluconeogenesisGO:0457219.5INS, ADIPOQ
9positive regulation of cellular protein metabolic processGO:0322709.4INS, ADIPOQ
10response to hypoxiaGO:0016669.4LEP, ADIPOQ, CAV1
11positive regulation of respiratory burstGO:0602679.4INSR, INS
12positive regulation of glycolytic processGO:0458219.3INSR, INS
13cellular response to insulin stimulusGO:0328699.3ADIPOQ, INSR
14positive regulation of glycogen biosynthetic processGO:0457259.3INSR, INS
15activation of protein kinase B activityGO:0321489.3INSR, INS
16positive regulation of mitosisGO:0458409.2INSR, INS
17positive regulation of nitric oxide biosynthetic processGO:0454299.2INSR, INS
18positive regulation of DNA replicationGO:0457409.1INS, INSR
19positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.1ADIPOQ, INS
20MAPK cascadeGO:0001659.0CAV1, INS
21glucose metabolic processGO:0060069.0ADIPOQ, LEP, INS
22positive regulation of MAPK cascadeGO:0434108.9INS, INSR, LEP
23positive regulation of glucose importGO:0463268.9ADIPOQ, INSR, INS
24glucose homeostasisGO:0425938.9ADIPOQ, INSR, INS
25positive regulation of cell proliferationGO:0082848.5INS, INSR, LEP

Molecular functions related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor bindingGO:0051599.0INSR, INS
2hormone activityGO:0051798.4ADIPOQ, LEP, INS

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