MCID: BRR012
MIFTS: 42

Berardinelli-Seip Congenital Lipodystrophy

Categories: Genetic diseases

Aliases & Classifications for Berardinelli-Seip Congenital Lipodystrophy

MalaCards integrated aliases for Berardinelli-Seip Congenital Lipodystrophy:

Name: Berardinelli-Seip Congenital Lipodystrophy 23 28
Berardinelli-Seip Congenital Generalized Lipodystrophy 23
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, 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/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:

31 (show all 39)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 31 occasional (7.5%) HP:0000083
2 nephropathy 31 occasional (7.5%) HP:0000112
3 amenorrhea 31 occasional (7.5%) HP:0000141
4 polycystic ovaries 31 occasional (7.5%) HP:0000147
5 abnormality of the oral cavity 31 occasional (7.5%) HP:0000163
6 mandibular prognathia 31 hallmark (90%) HP:0000303
7 prominent supraorbital ridges 31 hallmark (90%) HP:0000336
8 diabetes mellitus 31 hallmark (90%) HP:0000819
9 precocious puberty 31 frequent (33%) HP:0000826
10 hyperinsulinemia 31 hallmark (90%) HP:0000842
11 growth hormone excess 31 frequent (33%) HP:0000845
12 insulin resistance 31 hallmark (90%) HP:0000855
13 oligomenorrhea 31 occasional (7.5%) HP:0000876
14 acanthosis nigricans 31 hallmark (90%) HP:0000956
15 hyperhidrosis 31 frequent (33%) HP:0000975
16 abnormality of skin pigmentation 31 frequent (33%) HP:0001000
17 large hands 31 hallmark (90%) HP:0001176
18 intellectual disability 31 frequent (33%) HP:0001249
19 cirrhosis 31 occasional (7.5%) HP:0001394
20 hepatic steatosis 31 occasional (7.5%) HP:0001397
21 hepatic failure 31 frequent (33%) HP:0001399
22 hypertrophic cardiomyopathy 31 frequent (33%) HP:0001639
23 myocardial infarction 31 occasional (7.5%) HP:0001658
24 pancreatitis 31 occasional (7.5%) HP:0001733
25 broad foot 31 hallmark (90%) HP:0001769
26 pulmonary arterial hypertension 31 occasional (7.5%) HP:0002092
27 ventriculomegaly 31 occasional (7.5%) HP:0002119
28 hypertriglyceridemia 31 hallmark (90%) HP:0002155
29 generalized hirsutism 31 frequent (33%) HP:0002230
30 hepatomegaly 31 hallmark (90%) HP:0002240
31 immunodeficiency 31 occasional (7.5%) HP:0002721
32 recurrent fractures 31 occasional (7.5%) HP:0002757
33 skeletal muscle hypertrophy 31 hallmark (90%) HP:0003712
34 accelerated skeletal maturation 31 hallmark (90%) HP:0005616
35 peripheral neuropathy 31 occasional (7.5%) HP:0009830
36 bone cyst 31 frequent (33%) HP:0012062
37 arterial stenosis 31 occasional (7.5%) HP:0100545
38 lipoatrophy 31 hallmark (90%) HP:0100578
39 glomerulopathy 31 occasional (7.5%) HP:0100820

MGI Mouse Phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.62 AGPAT2 BSCL2 CAV1 LEP
2 digestive/alimentary MP:0005381 9.56 AGPAT2 BSCL2 CAV1 LEP
3 integument MP:0010771 9.46 AGPAT2 BSCL2 CAV1 LEP
4 liver/biliary system MP:0005370 9.26 AGPAT2 BSCL2 CAV1 LEP
5 renal/urinary system MP:0005367 8.92 AGPAT2 BSCL2 CAV1 LEP

Drugs & Therapeutics for Berardinelli-Seip Congenital Lipodystrophy

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

(show all 6)
# 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 Cathartics Phase 2
5 Gastrointestinal Agents Phase 2
6 Laxatives Phase 2

Interventional clinical trials:


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

Search NIH Clinical Center for Berardinelli-Seip Congenital Lipodystrophy

Genetic Tests for Berardinelli-Seip Congenital Lipodystrophy

Genetic tests related to Berardinelli-Seip Congenital Lipodystrophy:

# Genetic test Affiliating Genes
1 Berardinelli-Seip Congenital Lipodystrophy 28

Anatomical Context for Berardinelli-Seip Congenital Lipodystrophy

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

38
Bone, Skin, Skeletal Muscle, Ovary, Adipocyte

Publications for Berardinelli-Seip Congenital Lipodystrophy

Articles related to Berardinelli-Seip Congenital Lipodystrophy:

(show all 31)
# Title Authors Year
1
High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil. ( 29046728 )
2017
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
Conversations between insulin and bone: Potential mechanism of high bone density in patients with Berardinelli-Seip Congenital Lipodystrophy. ( 27876139 )
2016
5
Case report: Dental management of Berardinelli-Seip congenital lipodystrophy. ( 26573975 )
2015
6
Berardinelli-Seip congenital lipodystrophy 2 regulates adipocyte lipolysis, browning, and energy balance in adult animals. ( 26269358 )
2015
7
Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps. ( 24825083 )
2014
8
Berardinelli-Seip congenital lipodystrophy in two siblings. ( 25506557 )
2014
9
A very rare cause of acute pancreatitis: Berardinelli-Seip congenital lipodystrophy. ( 25910311 )
2014
10
AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome. ( 23337016 )
2013
11
An incidental finding of striking muscular hypertrophy leading to a diagnosis of Berardinelli Seip Congenital Lipodystrophy. ( 24023365 )
2013
12
Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. ( 22269949 )
2012
13
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin. ( 20236991 )
2010
14
Early course of Berardinelli-Seip congenital lipodystrophy (BSCL). ( 20301053 )
2010
15
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
16
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
17
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. ( 19041432 )
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
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. ( 19574402 )
2009
21
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. ( 18211975 )
2008
22
Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil. ( 17535271 )
2007
23
Berardinelli-Seip congenital lipodystrophy. ( 16735770 )
2006
24
Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. ( 16435205 )
2005
25
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. ( 15732094 )
2005
26
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. ( 15181077 )
2004
27
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
28
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci. ( 11916958 )
2002
29
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. ( 12362029 )
2002
30
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. ( 11479539 )
2001
31
Berardinelli-Seip Congenital Lipodystrophy ( 20301391 )
1993

Variations for Berardinelli-Seip Congenital Lipodystrophy

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

7
# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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