MCID: BRR012
MIFTS: 40

Berardinelli-Seip Congenital Lipodystrophy

Categories: Genetic diseases

Aliases & Classifications for Berardinelli-Seip Congenital Lipodystrophy

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 2. 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, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and skin, and related phenotypes are diabetes mellitus and precocious puberty

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 top 50) (show all 69)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 occasional (7.5%) HP:0000819
2 precocious puberty 32 frequent (33%) HP:0000826
3 osteopenia 32 occasional (7.5%) HP:0000938
4 hyperhidrosis 32 frequent (33%) HP:0000975
5 intellectual disability 32 frequent (33%) HP:0001249
6 failure to thrive 32 occasional (7.5%) HP:0001508
7 scoliosis 32 occasional (7.5%) HP:0002650
8 hyperlordosis 32 occasional (7.5%) HP:0003307
9 mandibular prognathia 32 hallmark (90%) HP:0000303
10 prominent supraorbital ridges 32 hallmark (90%) HP:0000336
11 splenomegaly 32 occasional (7.5%) HP:0001744
12 hepatomegaly 32 hallmark (90%) HP:0002240
13 delayed skeletal maturation 32 frequent (33%) HP:0002750
14 flexion contracture 32 frequent (33%) HP:0001371
15 renal insufficiency 32 occasional (7.5%) HP:0000083
16 nephropathy 32 occasional (7.5%) HP:0000112
17 myopathy 32 frequent (33%) HP:0003198
18 osteoporosis 32 occasional (7.5%) HP:0000939
19 lipoatrophy 32 hallmark (90%) HP:0100578
20 hypertrophic cardiomyopathy 32 frequent (33%) HP:0001639
21 hypertriglyceridemia 32 hallmark (90%) HP:0002155
22 immunodeficiency 32 occasional (7.5%) HP:0002721
23 myocardial infarction 32 occasional (7.5%) HP:0001658
24 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
25 acanthosis nigricans 32 occasional (7.5%) HP:0000956
26 peripheral neuropathy 32 occasional (7.5%) HP:0009830
27 congestive heart failure 32 occasional (7.5%) HP:0001635
28 generalized hirsutism 32 frequent (33%) HP:0002230
29 secondary amenorrhea 32 occasional (7.5%) HP:0000869
30 hepatic steatosis 32 occasional (7.5%) HP:0001397
31 hyperinsulinemia 32 hallmark (90%) HP:0000842
32 cirrhosis 32 occasional (7.5%) HP:0001394
33 spinal rigidity 32 occasional (7.5%) HP:0003306
34 pancreatitis 32 occasional (7.5%) HP:0001733
35 ventriculomegaly 32 occasional (7.5%) HP:0002119
36 glomerulopathy 32 occasional (7.5%) HP:0100820
37 muscle stiffness 32 frequent (33%) HP:0003552
38 polycystic ovaries 32 occasional (7.5%) HP:0000147
39 recurrent infections 32 occasional (7.5%) HP:0002719
40 recurrent fractures 32 occasional (7.5%) HP:0002757
41 growth hormone excess 32 frequent (33%) HP:0000845
42 arterial stenosis 32 occasional (7.5%) HP:0100545
43 hepatic failure 32 frequent (33%) HP:0001399
44 pyloric stenosis 32 occasional (7.5%) HP:0002021
45 abnormality of skin pigmentation 32 frequent (33%) HP:0001000
46 skeletal muscle hypertrophy 32 hallmark (90%) HP:0003712
47 bone cyst 32 frequent (33%) HP:0012062
48 large hands 32 hallmark (90%) HP:0001176
49 accelerated skeletal maturation 32 hallmark (90%) HP:0005616
50 iga deficiency 32 very rare (1%) HP:0002720

MGI Mouse Phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:

46
# 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, Globin Zinc Phase 2, Phase 3
2 insulin Phase 2, Phase 3
3
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
4 Cathartics Phase 2
5 Laxatives Phase 2
6 Gastrointestinal Agents 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 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL) Active, not recruiting NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
8 Registry for Patients With Lipodystrophy Recruiting NCT03553420
9 Lipodystrophy Connect Patient Registry Recruiting NCT02577952

Search NIH Clinical Center for Berardinelli-Seip Congenital Lipodystrophy

Genetic Tests for Berardinelli-Seip Congenital Lipodystrophy

Anatomical Context for Berardinelli-Seip Congenital Lipodystrophy

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

41
Skeletal Muscle, Bone, Skin, Heart, Ovary, Adipocyte

Publications for Berardinelli-Seip Congenital Lipodystrophy

Articles related to Berardinelli-Seip Congenital Lipodystrophy:

(show all 35)
# Title Authors Year
1
Nurses' knowledge about Berardinelli-Seip Congenital Lipodystrophy. ( 29864145 )
2018
2
Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy. ( 29883474 )
2018
3
Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects. ( 30208912 )
2018
4
High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil. ( 29046728 )
2017
5
Conversations between insulin and bone: Potential mechanism of high bone density in patients with Berardinelli-Seip Congenital Lipodystrophy. ( 27876139 )
2016
6
Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients. ( 27894728 )
2016
7
Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2)/SEIPIN is not required for Brown Adipogenesis but Regulates Brown Adipose Tissue Development and Function. ( 27185876 )
2016
8
Berardinelli-Seip congenital lipodystrophy 2 regulates adipocyte lipolysis, browning, and energy balance in adult animals. ( 26269358 )
2015
9
Case report: Dental management of Berardinelli-Seip congenital lipodystrophy. ( 26573975 )
2015
10
Berardinelli-Seip congenital lipodystrophy in two siblings. ( 25506557 )
2014
11
A very rare cause of acute pancreatitis: Berardinelli-Seip congenital lipodystrophy. ( 25910311 )
2014
12
Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps. ( 24825083 )
2014
13
AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome. ( 23337016 )
2013
14
An incidental finding of striking muscular hypertrophy leading to a diagnosis of Berardinelli Seip Congenital Lipodystrophy. ( 24023365 )
2013
15
Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. ( 22269949 )
2012
16
Early course of Berardinelli-Seip congenital lipodystrophy (BSCL). ( 20301053 )
2010
17
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
18
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin. ( 20236991 )
2010
19
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
20
Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL). ( 19167372 )
2009
21
Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. ( 19278620 )
2009
22
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. ( 19226263 )
2009
23
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. ( 19041432 )
2009
24
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. ( 19574402 )
2009
25
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. ( 18211975 )
2008
26
Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil. ( 17535271 )
2007
27
Berardinelli-Seip congenital lipodystrophy. ( 16735770 )
2006
28
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. ( 15732094 )
2005
29
Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. ( 16435205 )
2005
30
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. ( 15181077 )
2004
31
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
32
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci. ( 11916958 )
2002
33
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. ( 12362029 )
2002
34
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. ( 11479539 )
2001
35
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 9.5 AGPAT2 BSCL2 LEP
2 response to hypoxia GO:0001666 9.37 CAV1 LEP
3 positive regulation of cytokine production GO:0001819 9.26 AGPAT2 LEP
4 lipid storage GO:0019915 9.16 BSCL2 CAV1
5 regulation of nitric-oxide synthase activity GO:0050999 8.96 CAV1 LEP
6 positive regulation of cold-induced thermogenesis GO:0120162 8.8 BSCL2 CAV1 LEP

Sources for Berardinelli-Seip Congenital Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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