MCID: BRR012
MIFTS: 43

Berardinelli-Seip Congenital Lipodystrophy malady

Genetic diseases (common) category

Aliases & Classifications for Berardinelli-Seip Congenital Lipodystrophy

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Berardinelli-Seip Congenital Lipodystrophy, Aliases & Descriptions:

Name: Berardinelli-Seip Congenital Lipodystrophy 19 20 21 22
Lipodystrophy, Congenital Generalized 21 43
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


Classifications:

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


Summaries for Berardinelli-Seip Congenital Lipodystrophy

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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. This condition is part of a group of related disorders known as lipodystrophies, which are all characterized by problems with adipose tissue.

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

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 Suite gene sharing:

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1acquired generalized lipodystrophy30.6LEP, ADIPOQ
2lipodystrophy30.3BSCL2, AGPAT2, INS, INSR, LEP, LMNA
3growth hormone deficiency29.9ADIPOQ, INS, LEP
4acanthosis nigricans28.7INSR, LEP, BSCL2, LMNA, AGPAT2, INS
5lipodystrophy, congenital generalized, type 210.7
6lipodystrophy, congenital generalized, type 110.6
7congenital generalized lipodystrophy10.5
8lipodystrophy, congenital generalized, type 410.5
9osteoarthritis10.5
10acute pancreatitis10.5
11dystonia10.5
12pancreatitis10.5
13mandibuloacral dysplasia10.5LMNA
14distal hereditary motor neuropathy10.4AGPAT2
15hyperinsulinemic hypoglycemia10.4INS
16periodontitis10.4
17lipodystrophy, congenital generalized, type 310.3
18fetal macrosomia10.2LEP, INS
19liver disease10.2INS, LEP
20panniculitis10.2
21anovulation10.2INS, LEP
22eating disorder10.1INS, LEP
23amenorrhea10.1LEP, INS
24prediabetes syndrome10.1ADIPOQ, INS
25obstructive sleep apnea10.1ADIPOQ, LEP
26encephalopathy, progressive, with or without lipodystrophy10.1
27insulin-like growth factor i10.1
28myocardial infarction10.1
29dilated cardiomyopathy10.1
30gas gangrene10.1
31hepatitis10.1
32amyloidosis10.1
33cervicitis10.1
34long qt syndrome10.1
35muscular dystrophy10.1
36myopathy10.1
37mental retardation10.1
38angiomatosis10.1
39morbid obesity10.1LEP, INS
40idiopathic edema10.1INS, ADIPOQ
41hypopituitarism10.1LEP, INS
42hypothyroidism10.1LEP, ADIPOQ
43rabson-mendenhall syndrome10.1INSR, INS
44cockayne syndrome10.1
45hyperlipidemia, familial combined10.1INS, ADIPOQ
46leprechaunism10.0INSR, INS
47fatty liver disease10.0INS, LEP
48mandibuloacral dysplasia with type b lipodystrophy10.0
49lipodystrophy, familial partial, 210.0
50autoimmune hepatitis10.0

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

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Drugs & Therapeutics for Berardinelli-Seip Congenital Lipodystrophy

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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

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

31
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 25)
idTitleAuthorsYear
1
Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps. (24825083)
2014
2
Berardinelli-Seip congenital lipodystrophy in two siblings. (25506557)
2014
3
A very rare cause of acute pancreatitis: Berardinelli-Seip congenital lipodystrophy. (25910311)
2014
4
An incidental finding of striking muscular hypertrophy leading to a diagnosis of Berardinelli Seip Congenital Lipodystrophy. (24023365)
2013
5
AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome. (23337016)
2013
6
Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. (22269949)
2012
7
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin. (20236991)
2010
8
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
9
Early course of Berardinelli-Seip congenital lipodystrophy (BSCL). (20301053)
2010
10
Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL). (19167372)
2009
11
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
12
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. (19574402)
2009
13
Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. (19278620)
2009
14
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. (19041432)
2009
15
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. (18211975)
2008
16
Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil. (17535271)
2007
17
Berardinelli-Seip congenital lipodystrophy. (16735770)
2006
18
Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. (16435205)
2005
19
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. (15732094)
2005
20
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
21
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. (15181077)
2004
22
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. (12362029)
2002
23
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci. (11916958)
2002
24
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. (11479539)
2001
25
Berardinelli-Seip Congenital Lipodystrophy (20301391)
1993

Variations for Berardinelli-Seip Congenital Lipodystrophy

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Clinvar genetic disease variations for Berardinelli-Seip Congenital Lipodystrophy:

6
id Gene Variation 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

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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 Suite gene sharing:

(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 Pathway36
8.7INS, INSR, CAV1
11
Show member pathways
8.7INS, LEP, ADIPOQ
12
Show member pathways
8.6LEP, INSR, INS
138.5INS, INSR, ADIPOQ
14
Show member pathways
8.5ADIPOQ, INSR, INS
158.2INS, INSR, LEP, CAV1
16
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
8.1ADIPOQ, LEP, INSR, INS
17
Show member pathways
8.1INS, INSR, LEP, ADIPOQ
187.6AGPAT2, 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 Suite gene sharing:

(show top 50)    (show all 93)
idCompoundScoreTop Affiliating Genes
1poly(glu(80)tyr(20))439.4INS, INSR
2chromium picolinate439.3INSR, INS
3sibutramine43 1210.1INS, LEP, ADIPOQ
4acipimox43 2810.1LEP, INS, ADIPOQ
5nash439.1ADIPOQ, INS, LEP
6telmisartan43 28 1211.1INS, ADIPOQ, LEP
7orlistat43 59 1211.0ADIPOQ, LEP, INS
8thiazolidinedione439.0INS, LEP, ADIPOQ
98-isoprostane439.0ADIPOQ, LEP, INS
10dehydroepiandrosterone sulfate439.0LEP, ADIPOQ, INS
11gliclazide43 49 1210.9ADIPOQ, INSR, INS
12glimepiride43 49 1210.9INSR, ADIPOQ, INS
13prostacyclin438.9INSR, CAV1, ADIPOQ, LEP
14streptozotocin438.8ADIPOQ, INS, INSR
15olanzapine43 49 28 24 1212.8INS, LEP, ADIPOQ
162-deoxyglucose43 129.8INS, INSR, ADIPOQ
17dhea438.7INS, ADIPOQ, LEP
18triacylglycerol438.7AGPAT2, ADIPOQ, LEP, INS
19mecasermin43 129.7INSR, INS
20octreotide43 59 28 1211.7ADIPOQ, INS, INSR
21acetylcholine43 49 28 24 1212.7ADIPOQ, CAV1, LEP, INSR
22uric acid43 249.7INS, ADIPOQ, LEP
23palmitate438.6ADIPOQ, INS, CAV1, INSR
24androstenedione43 249.6LEP, ADIPOQ, INS
25aicar43 24 1210.5ADIPOQ, LEP, INS, INSR
26fenofibrate43 49 1210.5ADIPOQ, INS, INSR, LEP
27glibenclamide43 28 49 5911.5INSR, LEP, ADIPOQ, INS
28metformin43 49 1210.5INSR, INS, LEP, ADIPOQ
29c-peptide438.5LEP, INS, INSR, ADIPOQ
30pioglitazone28 43 49 1211.5LEP, INS, ADIPOQ, INSR
31troglitazone43 28 59 1211.5INS, LEP, ADIPOQ, INSR
32carbohydrates438.4ADIPOQ, LEP, INSR, INS
33thyroxine43 249.4LEP, INSR, ADIPOQ, INS
34glycerol43 24 1210.4ADIPOQ, LEP, INS, INSR
35cholesterol43 28 24 1211.3CAV1, ADIPOQ, LMNA, INS, LEP
36rapamycin438.2ADIPOQ, LEP, INS, INSR
37ly294002438.1INS, INSR, LEP, ADIPOQ, CAV1
38wortmannin438.1INS, INSR, LEP, ADIPOQ, CAV1
39testosterone43 59 24 1211.1INSR, INS, CAV1, ADIPOQ, LEP
40dexamethasone43 49 28 1211.0INS, CAV1, ADIPOQ, LEP, INSR
41creatinine438.0ADIPOQ, LMNA, LEP, INSR, INS
42alanine438.0INSR, ADIPOQ, INS, LMNA, CAV1
43phosphatidylinositol438.0INS, LEP, ADIPOQ, INSR, CAV1
44glutamate438.0INS, INSR, CAV1, LEP, ADIPOQ
45rosiglitazone28 43 49 24 1211.8INSR, INS, ADIPOQ, LEP, CAV1, LMNA
46arginine437.7CAV1, ADIPOQ, LMNA, LEP, INSR, INS
47estrogen437.7INS, LEP, ADIPOQ, INSR, CAV1
48glucose437.7CAV1, INSR, LEP, LMNA, ADIPOQ, INS
49serine437.6ADIPOQ, INS, INSR, LEP, CAV1, LMNA
50lipid437.4INS, INSR, LEP, ADIPOQ, CAV1, AGPAT2

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:00059019.5CAV1, INSR

Biological processes related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards Suite gene sharing:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1lipid storageGO:001991510.1CAV1, BSCL2
2positive regulation of cytokine productionGO:00018199.9AGPAT2, LEP
3membrane depolarizationGO:00518999.8ADIPOQ, CAV1
4positive regulation of developmental growthGO:00486399.8LEP, INSR
5negative regulation of lipid catabolic processGO:00509959.6INS, BSCL2
6circadian rhythmGO:00076239.6ADIPOQ, LEP
7positive regulation of insulin receptor signaling pathwayGO:00466289.5INS, LEP
8negative regulation of gluconeogenesisGO:00457219.5INS, ADIPOQ
9positive regulation of cellular protein metabolic processGO:00322709.4INS, ADIPOQ
10response to hypoxiaGO:00016669.4LEP, ADIPOQ, CAV1
11positive regulation of respiratory burstGO:00602679.4INSR, INS
12positive regulation of glycolytic processGO:00458219.3INSR, INS
13cellular response to insulin stimulusGO:00328699.3ADIPOQ, INSR
14positive regulation of glycogen biosynthetic processGO:00457259.3INSR, INS
15activation of protein kinase B activityGO:00321489.3INSR, INS
16positive regulation of mitosisGO:00458409.2INSR, INS
17positive regulation of nitric oxide biosynthetic processGO:00454299.2INSR, INS
18positive regulation of DNA replicationGO:00457409.1INS, INSR
19positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.1ADIPOQ, INS
20MAPK cascadeGO:00001659.0CAV1, INS
21glucose metabolic processGO:00060069.0ADIPOQ, LEP, INS
22positive regulation of MAPK cascadeGO:00434108.9INS, INSR, LEP
23positive regulation of glucose importGO:00463268.9ADIPOQ, INSR, INS
24glucose homeostasisGO:00425938.9ADIPOQ, INSR, INS
25positive regulation of cell proliferationGO:00082848.5INS, INSR, LEP

Molecular functions related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor bindingGO:00051599.0INSR, INS
2hormone activityGO:00051798.4ADIPOQ, 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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25ICD10
26ICD10 via Orphanet
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