MCID: BRR012
MIFTS: 43

Berardinelli-Seip Congenital Lipodystrophy malady

Genetic diseases (common) category

Aliases & Classifications for Berardinelli-Seip Congenital Lipodystrophy

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Aliases & Descriptions for Berardinelli-Seip Congenital Lipodystrophy:

Name: Berardinelli-Seip Congenital Lipodystrophy 19 20 21 22
Lipodystrophy, Congenital Generalized 21 44
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


Classifications:



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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MGI Mouse Phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:

35 (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

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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:

5
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 processes59
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway59
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))449.4INS, INSR
2chromium picolinate449.3INSR, INS
3sibutramine44 1110.1INS, LEP, ADIPOQ
4acipimox44 2810.1LEP, INS, ADIPOQ
5nash449.1ADIPOQ, INS, LEP
6telmisartan44 28 1111.1INS, ADIPOQ, LEP
7orlistat44 60 1111.0ADIPOQ, LEP, INS
8thiazolidinedione449.0INS, LEP, ADIPOQ
98-isoprostane449.0ADIPOQ, LEP, INS
10dehydroepiandrosterone sulfate449.0LEP, ADIPOQ, INS
11gliclazide44 50 1110.9ADIPOQ, INSR, INS
12glimepiride44 50 1110.9INSR, ADIPOQ, INS
13prostacyclin448.9INSR, CAV1, ADIPOQ, LEP
14streptozotocin448.8ADIPOQ, INS, INSR
15olanzapine44 50 28 24 1112.8INS, LEP, ADIPOQ
162-deoxyglucose44 119.8INS, INSR, ADIPOQ
17dhea448.7INS, ADIPOQ, LEP
18triacylglycerol448.7AGPAT2, ADIPOQ, LEP, INS
19mecasermin44 119.7INSR, INS
20octreotide44 60 28 1111.7ADIPOQ, INS, INSR
21acetylcholine44 50 28 24 1112.7ADIPOQ, CAV1, LEP, INSR
22uric acid44 249.7INS, ADIPOQ, LEP
23palmitate448.6ADIPOQ, INS, CAV1, INSR
24androstenedione44 249.6LEP, ADIPOQ, INS
25aicar44 24 1110.5ADIPOQ, LEP, INS, INSR
26fenofibrate44 50 1110.5ADIPOQ, INS, INSR, LEP
27glibenclamide44 28 50 6011.5INSR, LEP, ADIPOQ, INS
28metformin44 50 1110.5INSR, INS, LEP, ADIPOQ
29c-peptide448.5LEP, INS, INSR, ADIPOQ
30pioglitazone28 44 50 1111.5LEP, INS, ADIPOQ, INSR
31troglitazone44 28 60 1111.5INS, LEP, ADIPOQ, INSR
32carbohydrates448.4ADIPOQ, LEP, INSR, INS
33thyroxine44 249.4LEP, INSR, ADIPOQ, INS
34glycerol44 24 1110.4ADIPOQ, LEP, INS, INSR
35cholesterol44 28 24 1111.3CAV1, ADIPOQ, LMNA, INS, LEP
36rapamycin448.2ADIPOQ, LEP, INS, INSR
37ly294002448.1INS, INSR, LEP, ADIPOQ, CAV1
38wortmannin448.1INS, INSR, LEP, ADIPOQ, CAV1
39testosterone44 60 24 1111.1INSR, INS, CAV1, ADIPOQ, LEP
40dexamethasone44 50 28 1111.0INS, CAV1, ADIPOQ, LEP, INSR
41creatinine448.0ADIPOQ, LMNA, LEP, INSR, INS
42alanine448.0INSR, ADIPOQ, INS, LMNA, CAV1
43phosphatidylinositol448.0INS, LEP, ADIPOQ, INSR, CAV1
44glutamate448.0INS, INSR, CAV1, LEP, ADIPOQ
45rosiglitazone28 44 50 24 1111.8INSR, INS, ADIPOQ, LEP, CAV1, LMNA
46arginine447.7CAV1, ADIPOQ, LMNA, LEP, INSR, INS
47estrogen447.7INS, LEP, ADIPOQ, INSR, CAV1
48glucose447.7CAV1, INSR, LEP, LMNA, ADIPOQ, INS
49serine447.6ADIPOQ, INS, INSR, LEP, CAV1, LMNA
50lipid447.4INS, 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

Sources for Berardinelli-Seip Congenital Lipodystrophy

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet