BSCL
MCID: BRR012
MIFTS: 48

Berardinelli-Seip Congenital Lipodystrophy (BSCL) malady

Genetic diseases category

Summaries for Berardinelli-Seip Congenital Lipodystrophy

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21Genetics Home Reference, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 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: Berardinelli-Seip Congenital Lipodystrophy, also known as lipodystrophy, congenital generalized, is related to lipodystrophy and congenital generalized lipodystrophy type 2. An important gene associated with Berardinelli-Seip Congenital Lipodystrophy is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)), and among its related pathways are Axon guidance and Transcription Transcription factor Tubby signaling pathways. The compounds glucose and glutamate have been mentioned in the context of this disorder. Affiliated tissues include liver and adipocyte, and related mouse phenotypes are endocrine/exocrine gland and adipose tissue.

GeneReviews summary for bscl

Aliases & Classifications for Berardinelli-Seip Congenital Lipodystrophy

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19GeneReviews, 21Genetics Home Reference, 20GeneTests, 22GTR, 60UMLS, 44Novoseek
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Classifications:

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


Aliases & Descriptions:

berardinelli-seip congenital lipodystrophy 19 20 22 21
lipodystrophy, congenital generalized 21 44
congenital generalized lipodystrophy 19 21
berardinelli-seip congenital generalized lipodystrophy 19
congenital generalized lipodystrophy type 2 60
familial generalized lipodystrophy 60
berardinelli-seip syndrome 21
generalized lipodystrophy 21
total lipodystrophy 21
brunzell syndrome 21
seip syndrome 21
bscl 21


Related Diseases for Berardinelli-Seip Congenital Lipodystrophy

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17GeneCards, 18GeneDecks
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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 107)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy31.6ADIPOQ, LMNA, LEP, INSR, INS, AGPAT2
2congenital generalized lipodystrophy type 230.9ADIPOQ, LMNA, LEP, INSR, INS, AGPAT2
3diabetes mellitus30.4BSCL2, INS, INSR, LEP, LMNA, ADIPOQ
4acquired generalized lipodystrophy30.3ADIPOQ, LEP
5hepatitis30.1CAV1
6myocardial infarction30.1ADIPOQ
7myopathy30.1LMNA, INS
8acanthosis nigricans30.0INSR, INS, AGPAT2, BSCL2, LEP, LMNA
9type 2 diabetes mellitus29.9INS, INSR, LEP, LMNA, ADIPOQ
10congenital generalized lipodystrophy11.1
11congenital generalized lipodystrophy type 110.6
12congenital generalized lipodystrophy type 410.4
13congenital generalized lipodystrophy type 310.4
14lipoatrophic diabetes10.2
15multiple sclerosis10.2
16panniculitis10.1
17gas gangrene10.1
18lafora disease10.1
19amyloidosis10.1
20cervicitis10.1
21congenital muscular dystrophy10.1
22dilated cardiomyopathy10.1
23long qt syndrome10.1
24muscular dystrophy10.1
25periodontitis10.1
26cockayne syndrome10.0
27diabetic ketoacidosis10.0
28leukemia10.0CAV1
29pancreatitis10.0INS
30cushing's syndrome10.0INS
31bulimia nervosa10.0LEP
32psoriasis10.0CAV1
33choriocarcinoma10.0LEP
34colon cancer10.0CAV1
35mandibuloacral dysplasia10.0LMNA
36progeria10.0LMNA
37hyperinsulinemic hypoglycemia10.0INS
38myotonic dystrophy10.0INSR
39pancreatic cancer10.0INS, CAV1
40fetal macrosomia10.0INS, LEP
41amenorrhea10.0LEP, INS
42stomach cancer10.0CAV1, ADIPOQ
43fatty liver disease10.0LEP, INS
44cystic fibrosis10.0INS, CAV1
45severe pre-eclampsia10.0LEP
46prediabetes syndrome10.0ADIPOQ, INS
47thyrotoxicosis10.0INS
48eating disorder10.0LEP, INS
49idiopathic edema10.0INS, ADIPOQ
50anorexia nervosa10.0LEP, ADIPOQ

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



Diseases related to berardinelli-seip congenital lipodystrophy

Clinical Features for Berardinelli-Seip Congenital Lipodystrophy

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Drugs & Therapeutics for Berardinelli-Seip Congenital Lipodystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Genetic Tests for Berardinelli-Seip Congenital Lipodystrophy

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20GeneTests, 22GTR
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Genetic tests related to Berardinelli-Seip Congenital Lipodystrophy:

id Genetic test Affiliating Genes
1 Berardinelli-Seip Congenital Lipodystrophy20 22 BSCL2

Anatomical Context for Berardinelli-Seip Congenital Lipodystrophy

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32MalaCards
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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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36MGI
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Publications for Berardinelli-Seip Congenital Lipodystrophy

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50PubMed
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Articles related to Berardinelli-Seip Congenital Lipodystrophy:

(show all 27)
idTitleAuthorsYear
1
An incidental finding of striking muscular hypertrophy leading to a diagnosis of Berardinelli Seip Congenital Lipodystrophy. (24023365)
2013
2
AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome. (23337016)
2013
3
Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). (22272673)
2012
4
Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. (22269949)
2012
5
Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case. (21508592)
2011
6
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin. (20236991)
2010
7
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
8
Early course of Berardinelli-Seip congenital lipodystrophy (BSCL). (20301053)
2010
9
Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL). (19167372)
2009
10
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
11
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. (19574402)
2009
12
Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. (19278620)
2009
13
Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). (19376819)
2009
14
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. (19226263)
2009
15
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. (19041432)
2009
16
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. (18211975)
2008
17
Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil. (17535271)
2007
18
Berardinelli-Seip congenital lipodystrophy. (16735770)
2006
19
Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. (16435205)
2005
20
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. (15732094)
2005
21
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
22
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. (15181077)
2004
23
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. (12362029)
2002
24
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci. (11916958)
2002
25
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. (11479539)
2001
26
Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping. Berardinelli-Seip Study Group. (8783773)
1996
27
Berardinelli-Seip Congenital Lipodystrophy (20301391)
1993

Genetic Variations for Berardinelli-Seip Congenital Lipodystrophy

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Expression for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 29KEGG, 52R&D Systems, 51QIAGEN, 49PharmGKB, 4Cell Signaling Technology
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Pathways related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.6LEP, INS
2
Transcription Transcription factor Tubby signaling pathways
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9.4INS, INSR
39.4INS, INSR
49.4INSR, INS
59.4INSR, INS
6
Hide members
9.4INSR, INS
7
Hide members
9.4INSR, INS
89.1CAV1, INS, INSR
9
Hide members
9.0ADIPOQ, INSR
109.0INS, INSR, LEP
119.0INS, INSR, LEP
128.6CAV1, INS, INSR, LEP
13
Hide members
8.6ADIPOQ, INSR, INS
148.6ADIPOQ, INSR, INS
158.6ADIPOQ, LEP, INSR
16
Hide members
8.2INS, INSR, LEP, ADIPOQ
177.6ADIPOQ, LMNA, LEP, INS, AGPAT2, BSCL2

Compounds for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

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44Novoseek, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB, 24HMDB
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Compounds related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
1glucose449.9INSR, CAV1
2glutamate449.8ADIPOQ
3poly(glu(80)tyr(20))449.8INSR, INS
4chromium picolinate449.8INS, INSR
5mecasermin44 1110.6INS, INSR
6exenatide44 1110.6INS, LEP
7palmitate449.3INS, ADIPOQ, CAV1
8sibutramine44 1110.2LEP, ADIPOQ, INS
9acipimox44 2810.2LEP, INS, ADIPOQ
10nash449.2ADIPOQ, LEP, INS
11telmisartan44 28 1111.2ADIPOQ, LEP, INS
12orlistat44 59 1111.2INS, LEP, ADIPOQ
13thiazolidinedione449.1ADIPOQ, INS, LEP
14vanadyl sulfate449.1INSR, INS
158-isoprostane449.1LEP, ADIPOQ, INS
16olanzapine49 44 28 11 2413.1ADIPOQ, LEP, INS
17glimepiride44 49 1111.0ADIPOQ, INSR, INS
18gliclazide44 49 1111.0ADIPOQ, INSR, INS
19dhea449.0ADIPOQ, LEP, INS
20streptozotocin449.0ADIPOQ, INSR, INS
212-deoxyglucose44 119.9ADIPOQ, INSR, INS
22octreotide44 59 28 1111.9ADIPOQ, INS, INSR
23triacylglycerol448.9AGPAT2, LEP, ADIPOQ, INS
24androstenedione44 249.7ADIPOQ, LEP, INS
25aicar44 11 2410.6ADIPOQ, INS, LEP, INSR
26fenofibrate44 49 1110.6ADIPOQ, INS, INSR, LEP
27glibenclamide44 28 49 5911.6ADIPOQ, LEP, INSR, INS
28metformin44 49 1110.6INSR, ADIPOQ, LEP, INS
29c-peptide448.6ADIPOQ, INS, INSR, LEP
30pioglitazone44 49 28 1111.6ADIPOQ, LEP, INSR, INS
31prostacyclin448.6ADIPOQ, CAV1, INSR, LEP
32troglitazone44 28 59 1111.6INSR, LEP, ADIPOQ, INS
33carbohydrates448.6INS, INSR, LEP, ADIPOQ
34thyroxine44 249.5ADIPOQ, LEP, INSR, INS
35glycerol44 11 2410.5ADIPOQ, LEP, INS, INSR
36acetylcholine44 49 28 11 2412.5CAV1, INSR, LEP, ADIPOQ
37rapamycin448.4LEP, ADIPOQ, INSR, INS
38ly294002448.2ADIPOQ, CAV1, INS, LEP, INSR
39cholesterol44 28 11 2411.2ADIPOQ, LMNA, LEP, INS, CAV1
40wortmannin448.2CAV1, INSR, LEP, INS, ADIPOQ
41testosterone44 59 11 2411.2ADIPOQ, INSR, INS, CAV1, LEP
42dexamethasone44 49 28 1111.1INS, INSR, CAV1, ADIPOQ, LEP
43phosphatidylinositol448.1CAV1, INS, ADIPOQ, INSR, LEP
44creatinine448.0ADIPOQ, INS, INSR, LMNA, LEP
45alanine447.9LMNA, INSR, CAV1, INS, ADIPOQ
46estrogen447.8CAV1, ADIPOQ, INS, INSR, LEP
47rosiglitazone44 49 28 11 2411.8ADIPOQ, LEP, INSR, CAV1, LMNA, INS
48arginine447.7CAV1, INS, INSR, LEP, LMNA, ADIPOQ
49serine447.4CAV1, LMNA, ADIPOQ, INSR, INS, LEP
50lipid447.4CAV1, AGPAT2, INS, INSR, LMNA, LEP

GO Terms for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

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16Gene Ontology
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Biological processes related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1lipid storageGO:01991510.0BSCL2, CAV1
2negative regulation of lipid catabolic processGO:05099510.0INS, BSCL2
3positive regulation of insulin receptor signaling pathwayGO:0466289.9LEP, INS
4positive regulation of respiratory burstGO:0602679.8INS, INSR
5positive regulation of cytokine productionGO:0018199.8AGPAT2, LEP
6positive regulation of developmental growthGO:0486399.7INSR, LEP
7positive regulation of glycolysisGO:0458219.7INSR, INS
8positive regulation of glycogen biosynthetic processGO:0457259.7INSR, INS
9activation of protein kinase B activityGO:0321489.6INSR, INS
10negative regulation of gluconeogenesisGO:0457219.5ADIPOQ, INS
11positive regulation of cellular protein metabolic processGO:0322709.5INS, ADIPOQ
12positive regulation of mitosisGO:0458409.4INSR, INS
13membrane depolarizationGO:0518999.4ADIPOQ, CAV1
14positive regulation of nitric oxide biosynthetic processGO:0454299.3INS, INSR
15positive regulation of MAPK cascadeGO:0434109.3LEP, INSR, INS
16circadian rhythmGO:0076239.2ADIPOQ, LEP
17positive regulation of DNA replicationGO:0457409.1INSR, INS
18glucose metabolic processGO:0060069.1INS, LEP, ADIPOQ
19response to hypoxiaGO:0016669.1CAV1, LEP, ADIPOQ
20positive regulation of glucose importGO:0463269.0ADIPOQ, INSR, INS
21glucose homeostasisGO:0425938.9INS, INSR, ADIPOQ

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

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor bindingGO:0051599.4INSR, INS
2hormone activityGO:0051798.5ADIPOQ, LEP, INS

Products for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

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Sources for Berardinelli-Seip Congenital Lipodystrophy

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3CDC
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14FMA
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23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
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