MCID: BRR012
MIFTS: 37

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 23 24 27
Berardinelli-Seip Congenital Generalized Lipodystrophy 23 24
 
Familial Generalized Lipodystrophy 68

Classifications:



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, and has symptoms including renal insufficiency, nephropathy and amenorrhea. An important gene associated with Berardinelli-Seip Congenital Lipodystrophy is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated), and among its related pathways are Signaling events mediated by PTP1B and Adipogenesis. Affiliated tissues include bone, skin and skeletal muscle, and related mouse phenotypes are adipose tissue and digestive/alimentary.

GeneReviews 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 & Phenotypes for Berardinelli-Seip Congenital Lipodystrophy

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Human phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:

 64 (show all 38)
id Description HPO Frequency HPO Source Accession
1 renal insufficiency64 HP:0000083
2 nephropathy64 HP:0000112
3 amenorrhea64 HP:0000141
4 polycystic ovaries64 HP:0000147
5 abnormality of the oral cavity64 HP:0000163
6 mandibular prognathia64 HP:0000303
7 prominent supraorbital ridges64 HP:0000336
8 diabetes mellitus64 HP:0000819
9 precocious puberty64 HP:0000826
10 hyperinsulinemia64 HP:0000842
11 growth hormone excess64 HP:0000845
12 insulin resistance64 HP:0000855
13 oligomenorrhea64 HP:0000876
14 acanthosis nigricans64 HP:0000956
15 hyperhidrosis64 HP:0000975
16 abnormality of skin pigmentation64 HP:0001000
17 large hands64 HP:0001176
18 intellectual disability64 HP:0001249
19 cirrhosis64 HP:0001394
20 hepatic steatosis64 HP:0001397
21 hepatic failure64 HP:0001399
22 hypertrophic cardiomyopathy64 HP:0001639
23 myocardial infarction64 HP:0001658
24 pancreatitis64 HP:0001733
25 broad foot64 HP:0001769
26 pulmonary arterial hypertension64 HP:0002092
27 ventriculomegaly64 HP:0002119
28 hypertriglyceridemia64 HP:0002155
29 generalized hirsutism64 HP:0002230
30 hepatomegaly64 HP:0002240
31 immunodeficiency64 HP:0002721
32 recurrent fractures64 HP:0002757
33 skeletal muscle hypertrophy64 HP:0003712
34 accelerated skeletal maturation64 HP:0005616
35 peripheral neuropathy64 HP:0009830
36 bone cyst64 HP:0012062
37 lipoatrophy64 HP:0100578
38 glomerulopathy64 HP:0100820

MGI Mouse Phenotypes related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.3AGPAT2, BSCL2, CAV1, LEP
2MP:00053819.3AGPAT2, BSCL2, CAV1, LEP
3MP:00053799.2AGPAT2, BSCL2, CAV1, LEP
4MP:00107719.2AGPAT2, BSCL2, CAV1, LEP
5MP:00053709.2AGPAT2, BSCL2, CAV1, LEP
6MP:00053678.5AGPAT2, BSCL2, CAV1, LEP

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 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1insulinPhase 2, Phase 34646
2Insulin, Globin ZincPhase 2, Phase 34645
3
chenodeoxycholic acidapprovedPhase 234474-25-910133
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
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
4LaxativesPhase 2537
5CatharticsPhase 2537
6Gastrointestinal AgentsPhase 28402

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
5Phase 2 Study of Obeticholic Acid for Lipodystrophy PatientsRecruitingNCT02430077Phase 2
6Expanded Access Metreleptin StudyActive, not recruitingNCT02404896Phase 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 Lipodystrophy27 24 BSCL2

Anatomical Context for Berardinelli-Seip Congenital Lipodystrophy

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

36
Bone, Skin, Skeletal muscle, Ovary, Adipocyte

Publications for Berardinelli-Seip Congenital Lipodystrophy

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Articles related to Berardinelli-Seip Congenital Lipodystrophy:

(show all 30)
idTitleAuthorsYear
1
Conversations between insulin and bone: Potential mechanism of high bone density in patients with Berardinelli-Seip Congenital Lipodystrophy. (27876139)
2016
2
Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients. (27894728)
2016
3
Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2)/SEIPIN is not required for Brown Adipogenesis but Regulates Brown Adipose Tissue Development and Function. (27185876)
2016
4
Berardinelli-Seip congenital lipodystrophy 2 regulates adipocyte lipolysis, browning, and energy balance in adult animals. (26269358)
2015
5
Case report: Dental management of Berardinelli-Seip congenital lipodystrophy. (26573975)
2015
6
Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps. (24825083)
2014
7
A very rare cause of acute pancreatitis: Berardinelli-Seip congenital lipodystrophy. (25910311)
2014
8
Berardinelli-Seip congenital lipodystrophy in two siblings. (25506557)
2014
9
An incidental finding of striking muscular hypertrophy leading to a diagnosis of Berardinelli Seip Congenital Lipodystrophy. (24023365)
2013
10
AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome. (23337016)
2013
11
Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. (22269949)
2012
12
Early course of Berardinelli-Seip congenital lipodystrophy (BSCL). (20301053)
2010
13
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin. (20236991)
2010
14
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
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
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. (19041432)
2009
17
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. (19574402)
2009
18
Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL). (19167372)
2009
19
Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. (19278620)
2009
20
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. (18211975)
2008
21
Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil. (17535271)
2007
22
Berardinelli-Seip congenital lipodystrophy. (16735770)
2006
23
Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. (16435205)
2005
24
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. (15732094)
2005
25
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. (15181077)
2004
26
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
27
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. (12362029)
2002
28
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci. (11916958)
2002
29
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. (11479539)
2001
30
Berardinelli-Seip Congenital Lipodystrophy (20301391)
1993

Variations for Berardinelli-Seip Congenital Lipodystrophy

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Copy number variations for Berardinelli-Seip Congenital Lipodystrophy from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
157463116340000077100000Copy numberBSCL2Berardinelli-seip congenital generalized lipodystrophy
257473116340000077100000MissenseBSCL2Berardinelli-seip congenital generalized lipodystrophy

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
19.3CAV1, LEP
29.0AGPAT2, 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
1lipid storageGO:001991510.1BSCL2, CAV1
2positive regulation of cytokine productionGO:000181910.0AGPAT2, LEP
3regulation of nitric-oxide synthase activityGO:00509999.9CAV1, LEP
4lipid metabolic processGO:00066299.6AGPAT2, BSCL2, LEP
5response to hypoxiaGO:00016669.3CAV1, LEP

Sources for Berardinelli-Seip Congenital Lipodystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet