MCID: BRR012
MIFTS: 37

Berardinelli-Seip Congenital Lipodystrophy malady

Categories: Genetic diseases

Aliases & Classifications for Berardinelli-Seip Congenital Lipodystrophy

Aliases & Descriptions for Berardinelli-Seip Congenital Lipodystrophy:

Name: Berardinelli-Seip Congenital Lipodystrophy 23 24 29
Berardinelli-Seip Congenital Generalized Lipodystrophy 23 24
Familial Generalized Lipodystrophy 69

Classifications:



Summaries for Berardinelli-Seip Congenital Lipodystrophy

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 diabetes mellitus, precocious puberty and hyperhidrosis. An important gene associated with Berardinelli-Seip Congenital Lipodystrophy is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated), and among its related pathways/superpathways are Adipogenesis and Signaling events mediated by PTP1B. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and skeletal muscle, and related phenotypes are adipose tissue and digestive/alimentary

GeneReviews: NBK1212

Related Diseases for Berardinelli-Seip Congenital Lipodystrophy

Graphical network of the top 20 diseases related to Berardinelli-Seip Congenital Lipodystrophy:



Diseases related to Berardinelli-Seip Congenital Lipodystrophy

Symptoms & Phenotypes for Berardinelli-Seip Congenital Lipodystrophy

Human phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:

32 (show all 38)
id Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 precocious puberty 32 HP:0000826
3 hyperhidrosis 32 HP:0000975
4 intellectual disability 32 HP:0001249
5 mandibular prognathia 32 HP:0000303
6 prominent supraorbital ridges 32 HP:0000336
7 hepatomegaly 32 HP:0002240
8 renal insufficiency 32 HP:0000083
9 nephropathy 32 HP:0000112
10 lipoatrophy 32 HP:0100578
11 hypertrophic cardiomyopathy 32 HP:0001639
12 hypertriglyceridemia 32 HP:0002155
13 immunodeficiency 32 HP:0002721
14 myocardial infarction 32 HP:0001658
15 acanthosis nigricans 32 HP:0000956
16 peripheral neuropathy 32 HP:0009830
17 generalized hirsutism 32 HP:0002230
18 hepatic steatosis 32 HP:0001397
19 hyperinsulinemia 32 HP:0000842
20 cirrhosis 32 HP:0001394
21 pancreatitis 32 HP:0001733
22 ventriculomegaly 32 HP:0002119
23 glomerulopathy 32 HP:0100820
24 polycystic ovaries 32 HP:0000147
25 recurrent fractures 32 HP:0002757
26 growth hormone excess 32 HP:0000845
27 hepatic failure 32 HP:0001399
28 abnormality of skin pigmentation 32 HP:0001000
29 skeletal muscle hypertrophy 32 HP:0003712
30 bone cyst 32 HP:0012062
31 large hands 32 HP:0001176
32 accelerated skeletal maturation 32 HP:0005616
33 broad foot 32 HP:0001769
34 abnormality of the oral cavity 32 HP:0000163
35 insulin resistance 32 HP:0000855
36 amenorrhea 32 HP:0000141
37 oligomenorrhea 32 HP:0000876
38 pulmonary arterial hypertension 32 HP:0002092

MGI Mouse Phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.67 AGPAT2 BSCL2 CAV1 LEP
2 digestive/alimentary MP:0005381 9.62 AGPAT2 BSCL2 CAV1 LEP
3 endocrine/exocrine gland MP:0005379 9.56 AGPAT2 BSCL2 CAV1 LEP
4 integument MP:0010771 9.46 AGPAT2 BSCL2 CAV1 LEP
5 liver/biliary system MP:0005370 9.26 AGPAT2 BSCL2 CAV1 LEP
6 renal/urinary system MP:0005367 8.92 LEP AGPAT2 BSCL2 CAV1

Drugs & Therapeutics for Berardinelli-Seip Congenital Lipodystrophy

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

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 insulin Phase 2, Phase 3
2 Insulin, Globin Zinc Phase 2, Phase 3
3
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
4 Gastrointestinal Agents Phase 2
5 Laxatives Phase 2
6 Cathartics Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3
2 Compassionate Use of Metreleptin in Previously Treated People With Generalized Lipodystrophy Enrolling by invitation NCT02262832 Phase 3
3 Compassionate Use of Metreleptin in Previously Treated People With Partial Lipodystrophy Enrolling by invitation NCT02262806 Phase 3
4 Leptin to Treat Lipodystrophy Completed NCT00025883 Phase 2
5 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2
6 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2
7 Lipodystrophy Connect Patient Registry Recruiting NCT02577952
8 Post Authorisation Safety Registry for US Patients With Generalised Lipodystrophy Treated With Metreleptin Not yet recruiting NCT02325674

Search NIH Clinical Center for Berardinelli-Seip Congenital Lipodystrophy

Genetic Tests for Berardinelli-Seip Congenital Lipodystrophy

Genetic tests related to Berardinelli-Seip Congenital Lipodystrophy:

id Genetic test Affiliating Genes
1 Berardinelli-Seip Congenital Lipodystrophy 29 24 BSCL2

Anatomical Context for Berardinelli-Seip Congenital Lipodystrophy

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

39
Bone, Skin, Skeletal Muscle, Ovary, Adipocyte

Publications for Berardinelli-Seip Congenital Lipodystrophy

Articles related to Berardinelli-Seip Congenital Lipodystrophy:

(show all 30)
id Title Authors Year
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

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

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 57463 11 63400000 77100000 Copy number BSCL2 Berardinelli-seip congenital generalized lipodystrophy
2 57473 11 63400000 77100000 Missense BSCL2 Berardinelli-seip congenital generalized lipodystrophy

Expression for Berardinelli-Seip Congenital Lipodystrophy

Search GEO for disease gene expression data for Berardinelli-Seip Congenital Lipodystrophy.

Pathways for Berardinelli-Seip Congenital Lipodystrophy

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

id Super pathways Score Top Affiliating Genes
1 10.92 AGPAT2 BSCL2 LEP
2 10.65 CAV1 LEP

GO Terms for Berardinelli-Seip Congenital Lipodystrophy

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

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.43 AGPAT2 BSCL2 LEP
2 response to hypoxia GO:0001666 9.32 CAV1 LEP
3 positive regulation of cytokine production GO:0001819 9.16 AGPAT2 LEP
4 regulation of nitric-oxide synthase activity GO:0050999 8.96 CAV1 LEP
5 lipid storage GO:0019915 8.62 BSCL2 CAV1

Sources for Berardinelli-Seip Congenital Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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