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MCID: BRR012
MIFTS: 36

Berardinelli-Seip Congenital Lipodystrophy

Categories: Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Berardinelli-Seip Congenital Lipodystrophy

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MalaCards integrated aliases for Berardinelli-Seip Congenital Lipodystrophy:

Name: Berardinelli-Seip Congenital Lipodystrophy 25
Berardinelli-Seip Congenital Generalized Lipodystrophy 25
Familial Generalized Lipodystrophy 74

Classifications:

MalaCards categories:
Global: Genetic diseases
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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 lipodystrophy, congenital generalized, type 2 and lipodystrophy, congenital generalized, type 3. An important gene associated with Berardinelli-Seip Congenital Lipodystrophy is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin), 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 skeletal muscle, bone and skin, and related phenotypes are mandibular prognathia and prominent supraorbital ridges

GeneReviews: NBK1212
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Related Diseases for Berardinelli-Seip Congenital Lipodystrophy

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Diseases related to Berardinelli-Seip Congenital Lipodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, congenital generalized, type 2 33.5 AGPAT2 BSCL2
2 lipodystrophy, congenital generalized, type 3 33.2 AGPAT2 BSCL2 CAV1
3 congenital generalized lipodystrophy 32.9 AGPAT2 BSCL2 CAV1 LEP
4 lipodystrophy, congenital generalized, type 1 32.9 AGPAT2 BSCL2 LEP
5 lipodystrophy, congenital generalized, type 4 32.7 AGPAT2 BSCL2 CAV1
6 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 31.9 AGPAT2 BSCL2
7 spastic paraplegia 17, autosomal dominant 30.7 AGPAT2 BSCL2
8 autosomal recessive disease 10.4
9 acute pancreatitis 10.4
10 pancreatitis 10.4
11 dystonia 10.4
12 distal hereditary motor neuropathy, type v 10.4
13 lipodystrophy, familial partial, type 3 10.0 AGPAT2 BSCL2
14 spastic paraplegia 17 10.0 BSCL2 HNRNPUL2-BSCL2
15 encephalopathy, progressive, with or without lipodystrophy 10.0 BSCL2 HNRNPUL2-BSCL2
16 pigmentation disease 10.0 AGPAT2 BSCL2
17 autism 6 9.8 LEP LEPQTL1
18 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 9.8 LEP LEPQTL1
19 obesity-hypoventilation syndrome 9.8 LEP LEPQTL1
20 lipodystrophy, familial partial, type 2 9.8 AGPAT2 LEP
21 fetal macrosomia 9.7 LEP LEPQTL1
22 familial partial lipodystrophy 9.6 AGPAT2 BSCL2 LEP
23 glucose intolerance 9.6 LEP LEPQTL1
24 anorexia nervosa 9.5 LEP LEPQTL1
25 complete generalized lipodystrophy 9.4 AGPAT2 BSCL2 CAV1 LEP
26 acquired generalized lipodystrophy 9.4 AGPAT2 BSCL2 CAV1 LEP

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



Diseases related to Berardinelli-Seip Congenital Lipodystrophy
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Symptoms & Phenotypes for Berardinelli-Seip Congenital Lipodystrophy

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Human phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:

33 (show top 50) (show all 69)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 33 hallmark (90%) HP:0000303
2 prominent supraorbital ridges 33 hallmark (90%) HP:0000336
3 hepatomegaly 33 hallmark (90%) HP:0002240
4 lipoatrophy 33 hallmark (90%) HP:0100578
5 hypertriglyceridemia 33 hallmark (90%) HP:0002155
6 hyperinsulinemia 33 hallmark (90%) HP:0000842
7 skeletal muscle hypertrophy 33 hallmark (90%) HP:0003712
8 large hands 33 hallmark (90%) HP:0001176
9 accelerated skeletal maturation 33 hallmark (90%) HP:0005616
10 broad foot 33 hallmark (90%) HP:0001769
11 insulin resistance 33 hallmark (90%) HP:0000855
12 precocious puberty 33 frequent (33%) HP:0000826
13 hyperhidrosis 33 frequent (33%) HP:0000975
14 intellectual disability 33 frequent (33%) HP:0001249
15 delayed skeletal maturation 33 frequent (33%) HP:0002750
16 flexion contracture 33 frequent (33%) HP:0001371
17 myopathy 33 frequent (33%) HP:0003198
18 hypertrophic cardiomyopathy 33 frequent (33%) HP:0001639
19 generalized hirsutism 33 frequent (33%) HP:0002230
20 elevated hepatic transaminase 33 frequent (33%) HP:0002910
21 muscle stiffness 33 frequent (33%) HP:0003552
22 hepatic failure 33 frequent (33%) HP:0001399
23 growth hormone excess 33 frequent (33%) HP:0000845
24 abnormality of skin pigmentation 33 frequent (33%) HP:0001000
25 bone cyst 33 frequent (33%) HP:0012062
26 progressive proximal muscle weakness 33 frequent (33%) HP:0009073
27 exercise-induced myalgia 33 frequent (33%) HP:0003738
28 atherosclerosis 33 frequent (33%) HP:0002621
29 palpitations 33 frequent (33%) HP:0001962
30 loss of subcutaneous adipose tissue in limbs 33 frequent (33%) HP:0003635
31 prolonged qtc interval 33 frequent (33%) HP:0005184
32 abnormal circulating creatine kinase concentration 33 frequent (33%) HP:0040081
33 diabetes mellitus 33 occasional (7.5%) HP:0000819
34 osteopenia 33 occasional (7.5%) HP:0000938
35 failure to thrive 33 occasional (7.5%) HP:0001508
36 scoliosis 33 occasional (7.5%) HP:0002650
37 hyperlordosis 33 occasional (7.5%) HP:0003307
38 splenomegaly 33 occasional (7.5%) HP:0001744
39 renal insufficiency 33 occasional (7.5%) HP:0000083
40 nephropathy 33 occasional (7.5%) HP:0000112
41 osteoporosis 33 occasional (7.5%) HP:0000939
42 immunodeficiency 33 occasional (7.5%) HP:0002721
43 myocardial infarction 33 occasional (7.5%) HP:0001658
44 pulmonary arterial hypertension 33 occasional (7.5%) HP:0002092
45 acanthosis nigricans 33 occasional (7.5%) HP:0000956
46 peripheral neuropathy 33 occasional (7.5%) HP:0009830
47 congestive heart failure 33 occasional (7.5%) HP:0001635
48 secondary amenorrhea 33 occasional (7.5%) HP:0000869
49 hepatic steatosis 33 occasional (7.5%) HP:0001397
50 cirrhosis 33 occasional (7.5%) HP:0001394

MGI Mouse Phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:

47
# 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
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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 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 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 Lipodystrophy Connect Patient Registry Completed NCT02577952
9 Registry for Patients With Lipodystrophy Recruiting NCT03553420

Search NIH Clinical Center for Berardinelli-Seip Congenital Lipodystrophy

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Genetic Tests for Berardinelli-Seip Congenital Lipodystrophy

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Anatomical Context for Berardinelli-Seip Congenital Lipodystrophy

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

42
Skeletal Muscle, Bone, Skin, Heart, Ovary, Adipocyte
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Publications for Berardinelli-Seip Congenital Lipodystrophy

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Articles related to Berardinelli-Seip Congenital Lipodystrophy:

(show all 34)
# Title Authors Year
1
Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients. ( 27894728 )
2018
2
Nurses' knowledge about Berardinelli-Seip Congenital Lipodystrophy. ( 29864145 )
2018
3
Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects. ( 30208912 )
2018
4
Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy. ( 29883474 )
2018
5
High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil. ( 29046728 )
2017
6
Case report: Dental management of Berardinelli-Seip congenital lipodystrophy. ( 26573975 )
2016
7
Berardinelli-Seip Congenital Lipodystrophy 2/Seipin Is Not Required for Brown Adipogenesis but Regulates Brown Adipose Tissue Development and Function. ( 27185876 )
2016
8
Conversations between insulin and bone: Potential mechanism of high bone density in patients with Berardinelli-Seip Congenital Lipodystrophy. ( 27876139 )
2016
9
Berardinelli-Seip congenital lipodystrophy 2 regulates adipocyte lipolysis, browning, and energy balance in adult animals. ( 26269358 )
2015
10
A very rare cause of acute pancreatitis: Berardinelli-Seip congenital lipodystrophy. ( 25910311 )
2014
11
Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps. ( 24825083 )
2014
12
Berardinelli-Seip congenital lipodystrophy in two siblings. ( 25506557 )
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
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
17
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin. ( 20236991 )
2010
18
Early course of Berardinelli-Seip congenital lipodystrophy (BSCL). ( 20301053 )
2010
19
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. ( 19041432 )
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
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. ( 19574402 )
2009
23
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
24
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. ( 19226263 )
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 the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. ( 14715872 )
2004
31
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. ( 15181077 )
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
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Variations for Berardinelli-Seip Congenital Lipodystrophy

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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
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Expression for Berardinelli-Seip Congenital Lipodystrophy

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

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

# Super pathways Score Top Affiliating Genes
1
Adipogenesis 1
10.92 AGPAT2 BSCL2 LEP
2
Signaling events mediated by PTP1B 1
10.65 CAV1 LEP
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GO Terms for Berardinelli-Seip Congenital Lipodystrophy

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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
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Sources for Berardinelli-Seip Congenital Lipodystrophy

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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