BSCL
MCID: BRR012
MIFTS: 45

Berardinelli-Seip Congenital Lipodystrophy (BSCL) malady

Genetic category

Summaries for Berardinelli-Seip Congenital Lipodystrophy

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21Genetics Home Reference, 19GeneReviews, 33MalaCards
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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 congenital generalized lipodystrophy type 2 and insulin resistance. 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 adipocyte and liver, and related mouse phenotypes are endocrine/exocrine gland and adipose tissue.

GeneReviews summary for bscl

Aliases & Classifications for Berardinelli-Seip Congenital Lipodystrophy

Sources:
19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 45Novoseek, 61UMLS
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Classifications:

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


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 61
familial generalized lipodystrophy 61
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 111)
idRelated DiseaseScoreTop Affiliating Genes
1congenital generalized lipodystrophy type 231.0LEP, ADIPOQ, INSR, INS, AGPAT2, LMNA
2insulin resistance30.5BSCL2, AGPAT2, INSR, INS, LMNA, ADIPOQ
3acquired generalized lipodystrophy30.1LEP, ADIPOQ
4acanthosis nigricans30.0LEP, BSCL2, AGPAT2, ADIPOQ, LMNA, INSR
5growth hormone deficiency29.9LEP, ADIPOQ, INS
6congenital generalized lipodystrophy type 110.6
7congenital generalized lipodystrophy10.5
8congenital generalized lipodystrophy type 410.5
9adiponectin deficiency10.5
10congenital generalized lipodystrophy type 310.5
11lipoatrophic diabetes10.3
12n syndrome10.3
13lip disease10.3
14lafora disease10.1
15amyloidosis10.1
16short syndrome10.1
17myopathy congenital10.1
18mental retardation10.1
19angiomatosis10.1
20short stature10.1
21cockayne syndrome10.0
22cytophagic histiocytic panniculitis10.0
23unicameral bone cyst10.0
24marfan syndrome10.0
25pulmonary tuberculosis10.0
26autoimmune hepatitis10.0
27hepatitis a10.0
28tuberculosis10.0
29cerebellar degeneration10.0
30neonatal progeroid syndrome10.0
31neonatal marfan syndrome10.0
32hepatitis10.0CAV1
33leukemia10.0CAV1
34pancreatitis10.0INS
35cushing's syndrome10.0INS
36bulimia nervosa10.0LEP
37psoriasis10.0CAV1
38choriocarcinoma10.0LEP
39colon cancer10.0CAV1
40mandibuloacral dysplasia10.0LMNA
41progeria10.0LMNA
42hyperinsulinemic hypoglycemia10.0INS
43myotonic dystrophy10.0INSR
44pancreatic cancer10.0CAV1, INS
45fetal macrosomia10.0LEP, INS
46amenorrhea10.0INS, LEP
47stomach cancer10.0CAV1, ADIPOQ
48fatty liver disease10.0LEP, INS
49cystic fibrosis10.0CAV1, INS
50myocardial infarction10.0ADIPOQ

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

Drugs & Therapeutics for Berardinelli-Seip Congenital Lipodystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Berardinelli-Seip Congenital Lipodystrophy:

33
Adipocyte, Liver

Animal Models for Berardinelli-Seip Congenital Lipodystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Berardinelli-Seip Congenital Lipodystrophy

Sources:
51PubMed
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Articles related to Berardinelli-Seip Congenital Lipodystrophy:

(show all 28)
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
28
Studies in congenital generalized lipodystrophy (Seip-Berardinelli syndrome). I. Development of diabetes. (4739356)
1973

Genetic Variations for Berardinelli-Seip Congenital Lipodystrophy

Expression for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

Sources:
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

Sources:
54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 30KEGG, 53R&D Systems, 52QIAGEN, 50PharmGKB, 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
Hide members
9.6LEP, INS
2
Transcription Transcription factor Tubby signaling pathways
Hide members
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

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB, 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
1glucose459.9CAV1, INSR
2glutamate459.8ADIPOQ
3poly(glu(80)tyr(20))459.8INS, INSR
4chromium picolinate459.8INS, INSR
5mecasermin45 1110.6INSR, INS
6exenatide45 1110.6LEP, INS
7palmitate459.3ADIPOQ, INS, CAV1
8sibutramine45 1110.2INS, LEP, ADIPOQ
9acipimox45 2910.2ADIPOQ, LEP, INS
10nash459.2INS, LEP, ADIPOQ
11telmisartan45 29 1111.2ADIPOQ, LEP, INS
12orlistat45 60 1111.2INS, LEP, ADIPOQ
13thiazolidinedione459.1INS, LEP, ADIPOQ
14vanadyl sulfate459.1INSR, INS
158-isoprostane459.1ADIPOQ, LEP, INS
16olanzapine50 45 29 11 2413.1ADIPOQ, LEP, INS
17glimepiride45 50 1111.0ADIPOQ, INSR, INS
18gliclazide45 50 1111.0INS, INSR, ADIPOQ
19dhea459.0ADIPOQ, LEP, INS
20streptozotocin459.0ADIPOQ, INSR, INS
212-deoxyglucose45 119.9INS, INSR, ADIPOQ
22octreotide45 60 29 1111.9ADIPOQ, INSR, INS
23triacylglycerol458.9ADIPOQ, LEP, INS, AGPAT2
24androstenedione45 249.7INS, LEP, ADIPOQ
25aicar45 11 2410.6INS, INSR, LEP, ADIPOQ
26fenofibrate45 50 1110.6INS, INSR, LEP, ADIPOQ
27glibenclamide45 29 50 6011.6ADIPOQ, LEP, INSR, INS
28metformin45 50 1110.6INS, INSR, LEP, ADIPOQ
29c-peptide458.6INS, INSR, LEP, ADIPOQ
30pioglitazone45 50 29 1111.6INS, INSR, LEP, ADIPOQ
31prostacyclin458.6ADIPOQ, LEP, INSR, CAV1
32troglitazone45 29 60 1111.6ADIPOQ, LEP, INSR, INS
33carbohydrates458.6ADIPOQ, LEP, INSR, INS
34thyroxine45 249.5INS, INSR, LEP, ADIPOQ
35glycerol45 11 2410.5INS, INSR, LEP, ADIPOQ
36acetylcholine45 50 29 11 2412.5CAV1, INSR, LEP, ADIPOQ
37rapamycin458.4INS, INSR, LEP, ADIPOQ
38ly294002458.2CAV1, INS, INSR, LEP, ADIPOQ
39cholesterol45 29 11 2411.2CAV1, INS, LEP, LMNA, ADIPOQ
40wortmannin458.2CAV1, INS, INSR, LEP, ADIPOQ
41testosterone45 60 11 2411.2CAV1, INS, INSR, LEP, ADIPOQ
42dexamethasone45 50 29 1111.1CAV1, INS, INSR, LEP, ADIPOQ
43phosphatidylinositol458.1CAV1, INS, INSR, LEP, ADIPOQ
44creatinine458.0INS, INSR, LEP, LMNA, ADIPOQ
45alanine457.9CAV1, INS, INSR, LMNA, ADIPOQ
46estrogen457.8ADIPOQ, LEP, INSR, INS, CAV1
47rosiglitazone45 50 29 11 2411.8ADIPOQ, LMNA, LEP, INSR, INS, CAV1
48arginine457.7CAV1, INS, INSR, LEP, LMNA, ADIPOQ
49serine457.4CAV1, INS, INSR, LEP, LMNA, ADIPOQ
50lipid457.4CAV1, AGPAT2, INS, INSR, LEP, LMNA

GO Terms for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

Sources:
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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet