MCID: BRR012
MIFTS: 50

Berardinelli-Seip Congenital Lipodystrophy malady

Genetic diseases (common) category

Summaries for Berardinelli-Seip Congenital Lipodystrophy

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Genetics Home Reference:23 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 lipodystrophy and acquired generalized 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

Aliases & Classifications for Berardinelli-Seip Congenital Lipodystrophy

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Berardinelli-Seip Congenital Lipodystrophy, Aliases & Descriptions:

Name: Berardinelli-Seip Congenital Lipodystrophy 21 22 23 24 62
Lipodystrophy, Congenital Generalized 23 45 62
Congenital Generalized Lipodystrophy 21 23
Total Lipodystrophy 23 62
Brunzell Syndrome 23 62
Berardinelli-Seip Congenital Generalized Lipodystrophy 21
 
Familial Generalized Lipodystrophy 62
Berardinelli-Seip Syndrome 23
Generalized Lipodystrophy 23
Seip's Syndrome 62
Seip Syndrome 23
Bscl 23


Classifications:

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


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/GeneDecks gene sharing:

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy31.6AGPAT2, ADIPOQ, LMNA, LEP, INSR, INS
2acquired generalized lipodystrophy30.5ADIPOQ, LEP
3growth hormone deficiency30.0ADIPOQ, LEP, INS
4acanthosis nigricans30.0BSCL2, INS, INSR, LEP, LMNA, ADIPOQ
5congenital generalized lipodystrophy11.1
6lipodystrophy, congenital generalized, type 210.7
7lipodystrophy, congenital generalized, type 110.6
8lipodystrophy, congenital generalized, type 410.5
9osteoarthritis10.5
10acute pancreatitis10.5
11dystonia10.5
12pancreatitis10.5
13lipodystrophy, congenital generalized, type 310.3
14panniculitis10.2
15encephalopathy, progressive, with or without lipodystrophy10.1
16insulin-like growth factor i10.1
17myocardial infarction10.1
18dilated cardiomyopathy10.1
19gas gangrene10.1
20hepatitis10.1
21amyloidosis10.1
22cervicitis10.1
23long qt syndrome10.1
24muscular dystrophy10.1
25myopathy10.1
26mental retardation10.1
27angiomatosis10.1
28periodontitis10.1
29cockayne syndrome10.1
30mandibuloacral dysplasia10.1LMNA
31distal hereditary motor neuropathy10.1AGPAT2
32hyperinsulinemic hypoglycemia10.0INS
33mandibuloacral dysplasia with type b lipodystrophy10.0
34autoimmune hepatitis10.0
35pulmonary tuberculosis10.0
36tuberculosis10.0
37cerebellar degeneration10.0
38fetal macrosomia10.0LEP, INS
39liver disease10.0INS, LEP
40anovulation10.0INS, LEP
41eating disorder10.0LEP, INS
42amenorrhea10.0LEP, INS
43prediabetes syndrome10.0ADIPOQ, INS
44obstructive sleep apnea10.0ADIPOQ, LEP
45morbid obesity10.0INS, LEP
46idiopathic edema10.0INS, ADIPOQ
47hypopituitarism10.0LEP, INS
48hypothyroidism10.0LEP, ADIPOQ
49rabson-mendenhall syndrome10.0INSR, INS
50hyperlipidemia, familial combined10.0ADIPOQ, INS

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 Lipodystrophy22 24 BSCL2

Anatomical Context for Berardinelli-Seip Congenital Lipodystrophy

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

33
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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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/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

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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 1310.1INS, LEP, ADIPOQ
4acipimox45 3010.1INS, LEP, ADIPOQ
5nash459.1INS, LEP, ADIPOQ
6telmisartan45 30 1311.1INS, LEP, ADIPOQ
7orlistat45 61 1311.0ADIPOQ, LEP, INS
8thiazolidinedione459.0ADIPOQ, LEP, INS
98-isoprostane459.0INS, LEP, ADIPOQ
10dehydroepiandrosterone sulfate459.0INS, LEP, ADIPOQ
11gliclazide45 51 1310.9INS, INSR, ADIPOQ
12glimepiride45 51 1310.9INS, INSR, ADIPOQ
13prostacyclin458.9INSR, LEP, ADIPOQ, CAV1
14streptozotocin458.8ADIPOQ, INSR, INS
15olanzapine45 51 30 26 1312.8INS, LEP, ADIPOQ
162-deoxyglucose45 139.8ADIPOQ, INSR, INS
17dhea458.7ADIPOQ, LEP, INS
18triacylglycerol458.7INS, LEP, ADIPOQ, AGPAT2
19mecasermin45 139.7INS, INSR
20octreotide45 61 30 1311.7ADIPOQ, INSR, INS
21acetylcholine45 51 30 26 1312.7INSR, LEP, ADIPOQ, CAV1
22uric acid45 269.7ADIPOQ, LEP, INS
23palmitate458.6CAV1, ADIPOQ, INSR, INS
24androstenedione45 269.6ADIPOQ, LEP, INS
25aicar45 26 1310.5INS, INSR, LEP, ADIPOQ
26fenofibrate45 51 1310.5INS, INSR, LEP, ADIPOQ
27glibenclamide45 30 51 6111.5ADIPOQ, LEP, INSR, INS
28c-peptide458.5INS, INSR, LEP, ADIPOQ
29metformin45 51 1310.5INS, INSR, LEP, ADIPOQ
30pioglitazone30 45 51 1311.5ADIPOQ, LEP, INSR, INS
31troglitazone45 30 61 1311.5INS, INSR, LEP, ADIPOQ
32carbohydrates458.4ADIPOQ, LEP, INSR, INS
33thyroxine45 269.4INS, INSR, LEP, ADIPOQ
34glycerol45 26 1310.4INS, INSR, LEP, ADIPOQ
35cholesterol45 30 26 1311.3CAV1, ADIPOQ, LMNA, LEP, INS
36rapamycin458.2ADIPOQ, LEP, INSR, INS
37ly294002458.1CAV1, ADIPOQ, LEP, INSR, INS
38wortmannin458.1INS, INSR, LEP, ADIPOQ, CAV1
39testosterone45 61 26 1311.1CAV1, ADIPOQ, LEP, INSR, INS
40dexamethasone45 51 30 1311.0INS, 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
45rosiglitazone30 45 51 26 1311.8CAV1, 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

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Cellular components related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:00059019.5CAV1, INSR

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

(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/GeneDecks:

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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4CDC
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27ICD10
28ICD10 via Orphanet
29ICD9CM
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35MeSH
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48OMIM via Orphanet
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58SNOMED-CT via Orphanet
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