BSCL
MCID: BRR012
MIFTS: 48

Berardinelli-Seip Congenital Lipodystrophy (BSCL) malady

Genetic diseases (common) category
Download this MalaCard

Summaries for Berardinelli-Seip Congenital Lipodystrophy

About this section
Sources:
21Genetics Home Reference, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard
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 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 adipocyte, and related mouse phenotypes are respiratory system and skeleton.

GeneReviews summary for bscl

Aliases & Classifications for Berardinelli-Seip Congenital Lipodystrophy

About this section
Sources:
19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 45Novoseek, 62UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

berardinelli-seip congenital lipodystrophy 19 20 22 21
lipodystrophy, congenital generalized 21 45
congenital generalized lipodystrophy 19 21
berardinelli-seip congenital generalized lipodystrophy 19
congenital generalized lipodystrophy type 2 62
familial generalized lipodystrophy 62
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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 91)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy31.4BSCL2, AGPAT2, INS, INSR, LEP, LMNA
2congenital generalized lipodystrophy type 230.7INSR, LEP, LMNA, ADIPOQ, AGPAT2, BSCL2
3acquired generalized lipodystrophy30.4LEP, ADIPOQ
4insulin resistance30.4INS, LEP, LMNA, ADIPOQ, INSR, AGPAT2
5diabetes mellitus30.3BSCL2, INS, LEP, LMNA, ADIPOQ, INSR
6growth hormone deficiency30.0ADIPOQ, INS, LEP
7acanthosis nigricans29.8INSR, LEP, BSCL2, LMNA, AGPAT2, INS
8type 2 diabetes mellitus29.8LMNA, INS, INSR, LEP, ADIPOQ
9congenital generalized lipodystrophy type 110.6
10congenital generalized lipodystrophy10.5
11congenital generalized lipodystrophy type 410.5
12congenital generalized lipodystrophy type 310.5
13periodontitis10.4
14lipoatrophic diabetes10.3
15panniculitis10.2
16gas gangrene10.1
17lafora disease10.1
18amyloidosis10.1
19cervicitis10.1
20dilated cardiomyopathy10.1
21hepatitis10.1
22long qt syndrome10.1
23multiple sclerosis10.1
24muscular dystrophy10.1
25myocardial infarction10.1
26myopathy10.1
27mental retardation10.1
28angiomatosis10.1
29short stature10.1
30mandibuloacral dysplasia10.1LMNA
31distal hereditary motor neuropathy10.1AGPAT2
32hyperinsulinemic hypoglycemia10.1INS
33fetal macrosomia10.0LEP, INS
34cockayne syndrome10.0
35cytophagic histiocytic panniculitis10.0
36anovulation10.0INS, LEP
37eating disorder10.0INS, LEP
38amenorrhea10.0LEP, INS
39prediabetes syndrome10.0ADIPOQ, INS
40obstructive sleep apnea10.0ADIPOQ, LEP
41morbid obesity10.0LEP, INS
42idiopathic edema10.0INS, ADIPOQ
43hypopituitarism10.0LEP, INS
44hypothyroidism10.0LEP, ADIPOQ
45rabson-mendenhall syndrome10.0INSR, INS
46familial combined hyperlipidemia10.0INS, ADIPOQ
47donohue syndrome10.0INSR, INS
48fatty liver disease10.0INS, LEP
49unicameral bone cyst10.0
50pulmonary tuberculosis10.0

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

About this section

Drugs & Therapeutics for Berardinelli-Seip Congenital Lipodystrophy

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Berardinelli-Seip Congenital Lipodystrophy

Search NIH Clinical Center for Berardinelli-Seip Congenital Lipodystrophy

Genetic Tests for Berardinelli-Seip Congenital Lipodystrophy

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
33MalaCards
See all sources

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

33
Adipocyte

Animal Models for Berardinelli-Seip Congenital Lipodystrophy or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:

37 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.1LMNA, INSR, CAV1, ADIPOQ, LEP
2MP:00053907.5CAV1, AGPAT2, ADIPOQ, LMNA, LEP, INS
3MP:00107717.4AGPAT2, CAV1, LMNA, LEP, INS, ADIPOQ
4MP:00053817.4BSCL2, LMNA, INSR, AGPAT2, CAV1, LEP
5MP:00053697.4INSR, CAV1, ADIPOQ, LMNA, LEP, INS
6MP:00053897.2BSCL2, LMNA, LEP, INSR, CAV1, INS
7MP:00053797.2LMNA, ADIPOQ, INS, CAV1, AGPAT2, LEP
8MP:00053857.1LEP, INSR, INS, LMNA, ADIPOQ, CAV1
9MP:00053756.9BSCL2, AGPAT2, CAV1, LMNA, ADIPOQ, LEP
10MP:00053706.9ADIPOQ, LEP, INSR, LMNA, INS, CAV1
11MP:00053676.9INSR, LEP, BSCL2, ADIPOQ, AGPAT2, CAV1
12MP:00053976.9INS, INSR, LEP, LMNA, ADIPOQ, CAV1
13MP:00053846.9BSCL2, LMNA, ADIPOQ, CAV1, INSR, LEP
14MP:00053866.9ADIPOQ, LMNA, AGPAT2, INSR, CAV1, INS
15MP:00053876.8INS, INSR, BSCL2, LEP, LMNA, ADIPOQ
16MP:00053786.8INSR, INS, BSCL2, LMNA, LEP, ADIPOQ
17MP:00053766.8BSCL2, CAV1, ADIPOQ, LMNA, LEP, INSR
18MP:00107686.7INS, INSR, LMNA, ADIPOQ, CAV1, AGPAT2

Publications for Berardinelli-Seip Congenital Lipodystrophy

About this section
Sources:
52PubMed
See all sources

Articles related to Berardinelli-Seip Congenital Lipodystrophy:

(show all 21)
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
Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. (22269949)
2012
4
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin. (20236991)
2010
5
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
6
Early course of Berardinelli-Seip congenital lipodystrophy (BSCL). (20301053)
2010
7
Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL). (19167372)
2009
8
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. (19574402)
2009
9
Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. (19278620)
2009
10
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. (19041432)
2009
11
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. (18211975)
2008
12
Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil. (17535271)
2007
13
Berardinelli-Seip congenital lipodystrophy. (16735770)
2006
14
Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. (16435205)
2005
15
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. (15732094)
2005
16
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
17
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. (15181077)
2004
18
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. (12362029)
2002
19
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci. (11916958)
2002
20
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. (11479539)
2001
21
Berardinelli-Seip Congenital Lipodystrophy (20301391)
1993

Variations for Berardinelli-Seip Congenital Lipodystrophy

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Berardinelli-Seip Congenital Lipodystrophy:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_001122955.3(BSCL2): c.604C> T (p.Arg202Ter)single nucleotide variantPathogenicrs137852970GRCh37Chr 11, 62462066: 62462066
2NM_001122955.3(BSCL2): c.826G> C (p.Ala276Pro)single nucleotide variantPathogenicrs137852971GRCh37Chr 11, 62459885: 62459885
3NM_001122955.3(BSCL2): c.1015C> T (p.Arg339Ter)single nucleotide variantPathogenicrs137852974GRCh37Chr 11, 62458604: 62458604
4NM_001122955.3(BSCL2): c.757G> T (p.Glu253Ter)single nucleotide variantPathogenicrs137852975GRCh37Chr 11, 62460143: 62460143

Expression for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 30KEGG, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 61Tocris Bioscience, 12EMD Millipore, 53QIAGEN, 5Cell Signaling Technology, 51PharmGKB, 54R&D Systems
See all sources

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 Pathway38
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 Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
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

About this section
Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 61Tocris Bioscience, 51PharmGKB, 24HMDB
See all sources

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))459.4INS, INSR
2chromium picolinate459.3INS, INSR
3sibutramine45 1110.1INS, LEP, ADIPOQ
4acipimox45 2910.1INS, LEP, ADIPOQ
5nash459.1INS, LEP, ADIPOQ
6telmisartan45 29 1111.1INS, LEP, ADIPOQ
7orlistat45 61 1111.0ADIPOQ, LEP, INS
8thiazolidinedione459.0ADIPOQ, LEP, INS
98-isoprostane459.0INS, LEP, ADIPOQ
10dehydroepiandrosterone sulfate459.0INS, LEP, ADIPOQ
11gliclazide45 51 1110.9INS, INSR, ADIPOQ
12glimepiride45 51 1110.9INS, INSR, ADIPOQ
13prostacyclin458.9INSR, LEP, ADIPOQ, CAV1
14streptozotocin458.8ADIPOQ, INSR, INS
15olanzapine45 51 29 24 1112.8INS, LEP, ADIPOQ
162-deoxyglucose45 119.8ADIPOQ, INSR, INS
17dhea458.7ADIPOQ, LEP, INS
18triacylglycerol458.7INS, LEP, ADIPOQ, AGPAT2
19mecasermin45 119.7INS, INSR
20octreotide45 61 29 1111.7ADIPOQ, INSR, INS
21acetylcholine45 51 29 24 1112.7INSR, LEP, ADIPOQ, CAV1
22uric acid45 249.7ADIPOQ, LEP, INS
23palmitate458.6CAV1, ADIPOQ, INSR, INS
24androstenedione45 249.6ADIPOQ, LEP, INS
25aicar45 24 1110.5INS, INSR, LEP, ADIPOQ
26fenofibrate45 51 1110.5INS, INSR, LEP, ADIPOQ
27glibenclamide45 29 51 6111.5ADIPOQ, LEP, INSR, INS
28c-peptide458.5INS, INSR, LEP, ADIPOQ
29metformin45 51 1110.5INS, INSR, LEP, ADIPOQ
30pioglitazone29 45 51 1111.5ADIPOQ, LEP, INSR, INS
31troglitazone45 29 61 1111.5INS, INSR, LEP, ADIPOQ
32carbohydrates458.4ADIPOQ, LEP, INSR, INS
33thyroxine45 249.4INS, INSR, LEP, ADIPOQ
34glycerol45 24 1110.4INS, INSR, LEP, ADIPOQ
35cholesterol45 29 24 1111.3CAV1, ADIPOQ, LMNA, LEP, INS
36rapamycin458.2ADIPOQ, LEP, INSR, INS
37ly294002458.1CAV1, ADIPOQ, LEP, INSR, INS
38wortmannin458.1INS, INSR, LEP, ADIPOQ, CAV1
39testosterone45 61 24 1111.1CAV1, ADIPOQ, LEP, INSR, INS
40dexamethasone45 51 29 1111.0INS, INSR, LEP, ADIPOQ, CAV1
41creatinine458.0INS, INSR, LEP, LMNA, ADIPOQ
42alanine458.0INS, INSR, LMNA, ADIPOQ, CAV1
43phosphatidylinositol458.0INS, INSR, LEP, ADIPOQ, CAV1
44glutamate458.0INS, INSR, LEP, ADIPOQ, CAV1
45rosiglitazone29 45 51 24 1111.8CAV1, ADIPOQ, LMNA, LEP, INSR, INS
46arginine457.7INS, INSR, LEP, LMNA, ADIPOQ, CAV1
47estrogen457.7INS, INSR, LEP, ADIPOQ, CAV1
48glucose457.7INS, INSR, LEP, LMNA, ADIPOQ, CAV1
49serine457.6INS, INSR, LEP, LMNA, ADIPOQ, CAV1
50lipid457.4INS, INSR, LEP, LMNA, ADIPOQ, CAV1

GO Terms for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

About this section
Sources:
16Gene Ontology
See all sources

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

Products for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Berardinelli-Seip Congenital Lipodystrophy

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet