MCID: BRR012
MIFTS: 34

Berardinelli-Seip Congenital Lipodystrophy malady

Category: Genetic diseases (common)

Aliases & Classifications for Berardinelli-Seip Congenital Lipodystrophy

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Aliases & Descriptions for Berardinelli-Seip Congenital Lipodystrophy:

Name: Berardinelli-Seip Congenital Lipodystrophy 21 22 24
Berardinelli-Seip Congenital Generalized Lipodystrophy 21 22
 
Congenital Generalized Lipodystrophy 21
Familial Generalized Lipodystrophy 65

Classifications:



External Ids:

UMLS65 C0221032

Summaries for Berardinelli-Seip Congenital Lipodystrophy

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MalaCards based summary: Berardinelli-Seip Congenital Lipodystrophy, also known as berardinelli-seip congenital generalized lipodystrophy, is related to congenital generalized lipodystrophy and lipodystrophy, congenital generalized, type 1. An important gene associated with Berardinelli-Seip Congenital Lipodystrophy is BSCL2 (Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)), and among its related pathways are Signaling events mediated by PTP1B and Adipogenesis. Affiliated tissues include eye, heart and kidney, and related mouse phenotypes are endocrine/exocrine gland and liver/biliary system.

GeneReviews summary for NBK1212

Related Diseases for Berardinelli-Seip Congenital Lipodystrophy

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Graphical network of 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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Drugs for Berardinelli-Seip Congenital Lipodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Contraceptives, OralPhase 2, Phase 33734
2Insulin, Globin ZincPhase 2, Phase 34278
3insulinPhase 2, Phase 34278
4
chenodeoxycholic acidapprovedPhase 225474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodal
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
5LaxativesPhase 2344
6CatharticsPhase 2344
7Gastrointestinal AgentsPhase 26401

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Leptin Replacement Therapy in Patients With LipodystrophyCompletedNCT00896298Phase 2, Phase 3
2Compassionate Use of Metreleptin in Previously Treated People With Generalized LipodystrophyEnrolling by invitationNCT02262832Phase 3
3Compassionate Use of Metreleptin in Previously Treated People With Partial LipodystrophyEnrolling by invitationNCT02262806Phase 3
4Leptin to Treat LipodystrophyCompletedNCT00025883Phase 2
5Expanded Access Metreleptin StudyEnrolling by invitationNCT02404896Phase 2
6Phase 2 Study of Obeticholic Acid for Lipodystrophy PatientsNot yet recruitingNCT02430077Phase 2
7Lipodystrophy Connect Patient RegistryRecruitingNCT02577952
8Post Authorisation Safety Registry for US Patients With Generalised Lipodystrophy Treated With MetreleptinNot yet recruitingNCT02325674

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 BSCL2

Anatomical Context for Berardinelli-Seip Congenital Lipodystrophy

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

33
Eye, Heart, Kidney, Lung, Myeloid, Prostate, Breast

Animal Models for Berardinelli-Seip Congenital Lipodystrophy or affiliated genes

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MGI Mouse Phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.3AGPAT2, BSCL2, CAV1, LEP
2MP:00053708.3AGPAT2, BSCL2, CAV1, LEP
3MP:00107718.2AGPAT2, BSCL2, CAV1, LEP
4MP:00053818.2AGPAT2, BSCL2, CAV1, LEP
5MP:00053678.1AGPAT2, BSCL2, CAV1, LEP
6MP:00053758.1AGPAT2, BSCL2, CAV1, LEP
7MP:00053978.1AGPAT2, BSCL2, CAV1, LEP

Publications for Berardinelli-Seip Congenital Lipodystrophy

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Articles related to Berardinelli-Seip Congenital Lipodystrophy:

(show all 29)
idTitleAuthorsYear
1
Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2)/SEIPIN is not required for Brown Adipogenesis but Regulates Brown Adipose Tissue Development and Function. (27185876)
2016
2
Case report: Dental management of Berardinelli-Seip congenital lipodystrophy. (26573975)
2015
3
Berardinelli-Seip congenital lipodystrophy 2 regulates adipocyte lipolysis, browning, and energy balance in adult animals. (26269358)
2015
4
Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps. (24825083)
2014
5
Berardinelli-Seip congenital lipodystrophy in two siblings. (25506557)
2014
6
A very rare cause of acute pancreatitis: Berardinelli-Seip congenital lipodystrophy. (25910311)
2014
7
An incidental finding of striking muscular hypertrophy leading to a diagnosis of Berardinelli Seip Congenital Lipodystrophy. (24023365)
2013
8
AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome. (23337016)
2013
9
Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. (22269949)
2012
102012
11
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin. (20236991)
2010
12
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
13
Early course of Berardinelli-Seip congenital lipodystrophy (BSCL). (20301053)
2010
14
Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL). (19167372)
2009
15
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
16
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. (19574402)
2009
17
Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. (19278620)
2009
18
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. (19041432)
2009
19
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. (18211975)
2008
20
Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil. (17535271)
2007
21
Berardinelli-Seip congenital lipodystrophy. (16735770)
2006
22
Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. (16435205)
2005
23
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. (15732094)
2005
24
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
25
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. (15181077)
2004
26
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. (12362029)
2002
27
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci. (11916958)
2002
28
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. (11479539)
2001
29
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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.0CAV1, LEP
28.7AGPAT2, BSCL2, LEP

GO Terms for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of cytokine productionGO:00018199.3AGPAT2, LEP
2response to nutrientGO:00075849.0CAV1, LEP
3response to hypoxiaGO:00016669.0CAV1, LEP

Sources for Berardinelli-Seip Congenital Lipodystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet