MCID: BRR012
MIFTS: 26

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 25 29
Berardinelli-Seip Congenital Generalized Lipodystrophy 25
Familial Generalized Lipodystrophy 70

Classifications:



External Ids:

UMLS 70 C0221032

Summaries for Berardinelli-Seip Congenital Lipodystrophy

MalaCards based summary : Berardinelli-Seip Congenital Lipodystrophy, also known as berardinelli-seip congenital generalized lipodystrophy, is related to lipodystrophy, congenital generalized, type 3 and lipodystrophy, congenital generalized, type 4. 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. Affiliated tissues include adipocyte, liver and skeletal muscle, and related phenotypes are adipose tissue and digestive/alimentary

GeneReviews: NBK1212

Related Diseases for Berardinelli-Seip Congenital Lipodystrophy

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, congenital generalized, type 3 32.0 CAVIN1 CAV1 BSCL2 AGPAT2
2 lipodystrophy, congenital generalized, type 4 32.0 CAVIN1 CAV1 BSCL2 AGPAT2
3 lipodystrophy, congenital generalized, type 1 31.8 LEP CAVIN1 BSCL2 AGPAT2
4 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 31.1 LEP BSCL2 AGPAT2
5 lipodystrophy, congenital generalized, type 2 30.9 LEP HNRNPUL2-BSCL2 CAVIN1 CAV1 BSCL2 AGPAT2
6 congenital generalized lipodystrophy 30.8 LEPQTL1 LEP HNRNPUL2-BSCL2 CAVIN1 CAV1 BSCL2
7 neuronopathy, distal hereditary motor, type vc 30.5 HNRNPUL2-BSCL2 BSCL2
8 spastic paraplegia 17 30.5 HNRNPUL2-BSCL2 BSCL2
9 spastic paraplegia 17, autosomal dominant 30.4 HNRNPUL2-BSCL2 BSCL2
10 hereditary spastic paraplegia 29.9 HNRNPUL2-BSCL2 CAV1 BSCL2
11 autosomal recessive disease 10.8
12 hypertriglyceridemia, familial 10.7
13 acanthosis nigricans 10.6
14 hypertrophic cardiomyopathy 10.6
15 fatty liver disease, nonalcoholic 1 10.5
16 non-alcoholic fatty liver disease 10.5
17 muscle hypertrophy 10.4
18 hyperandrogenism 10.4
19 hyperinsulinism 10.4
20 lipid metabolism disorder 10.4
21 pulmonary fibrosis 10.3
22 charcot-marie-tooth disease, axonal, type 2e 10.3
23 proteinuria, chronic benign 10.3
24 autosomal dominant distal hereditary motor neuronopathy 10.3
25 charcot-marie-tooth disease 10.3
26 tooth disease 10.3
27 acute pancreatitis 10.3
28 hyperglycemia 10.3
29 hypertrichosis 10.3
30 pancreatitis 10.3
31 dystonia 10.3
32 axonal neuropathy 10.3
33 bscl2-related neurologic disorders/seipinopathy 10.3
34 precocious puberty 10.3
35 spastic paraparesis 10.3
36 splenomegaly 10.3
37 spasticity 10.3
38 adiposis dolorosa 10.1 BSCL2 AGPAT2
39 encephalopathy, progressive, with or without lipodystrophy 10.1 HNRNPUL2-BSCL2 BSCL2
40 donohue syndrome 10.1 BSCL2 AGPAT2
41 umbilical hernia 10.1 BSCL2 AGPAT2
42 acquired lipodystrophy 10.1 CAV1 BSCL2
43 monogenic diabetes 10.0 HNRNPUL2-BSCL2 BSCL2
44 lipodystrophy, familial partial, type 3 9.9 HNRNPUL2-BSCL2 BSCL2 AGPAT2
45 neuronopathy, distal hereditary motor, type va 9.9 HNRNPUL2-BSCL2 BSCL2 AGPAT2
46 autism 6 9.8 LEPQTL1 LEP
47 genetic obesity 9.8 LEPQTL1 LEP
48 obesity-hypoventilation syndrome 9.8 LEPQTL1 LEP
49 lipodystrophy, familial partial, type 1 9.8 CAVIN1 BSCL2 AGPAT2
50 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 9.8 LEPQTL1 LEP

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

MGI Mouse Phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.56 AGPAT2 BSCL2 CAV1 LEP
2 digestive/alimentary MP:0005381 9.46 AGPAT2 BSCL2 CAV1 LEP
3 liver/biliary system MP:0005370 9.26 AGPAT2 BSCL2 CAV1 LEP
4 renal/urinary system MP:0005367 9.02 AGPAT2 BSCL2 CAV1 CAVIN1 LEP

Drugs & Therapeutics for Berardinelli-Seip Congenital Lipodystrophy

Search Clinical Trials , 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 29

Anatomical Context for Berardinelli-Seip Congenital Lipodystrophy

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

40
Adipocyte, Liver, Skeletal Muscle, Bone

Publications for Berardinelli-Seip Congenital Lipodystrophy

Articles related to Berardinelli-Seip Congenital Lipodystrophy:

(show top 50) (show all 142)
# Title Authors PMID Year
1
Towards a mechanistic understanding of lipodystrophy and seipin functions. 25 61
25195639 2014
2
Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy. 25 61
23647707 2013
3
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. 61 25
19041432 2009
4
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. 25 61
18698612 2008
5
The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. 61 25
18458148 2008
6
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. 25 61
18211975 2008
7
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. 25 61
15181077 2004
8
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 25 61
14981520 2004
9
Genetic basis of congenital generalized lipodystrophy. 61 25
14557833 2004
10
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. 61 25
14557463 2003
11
Prevalence of mutations in AGPAT2 among human lipodystrophies. 61 25
12765973 2003
12
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. 25 61
12362029 2002
13
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. 61 25
11479539 2001
14
Leptin in congenital and HIV-associated lipodystrophy. 25
25267014 2015
15
A new seipin-associated neurodegenerative syndrome. 25
23564749 2013
16
Seipin regulates excitatory synaptic transmission in cortical neurons. 25
23173741 2013
17
Seipin: from human disease to molecular mechanism. 25
22474068 2012
18
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. 25
23430896 2012
19
Clinical review#: Lipodystrophies: genetic and acquired body fat disorders. 25
21865368 2011
20
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. 25
20979188 2010
21
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. 25
20684003 2010
22
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. 25
20300641 2010
23
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. 25
19226263 2009
24
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. 25
19726876 2009
25
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 25
18790819 2009
26
Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy. 25
17671040 2007
27
Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy. 25
17118991 2007
28
Genetic disorders of adipose tissue development, differentiation, and death. 25
16722806 2006
29
Common autosomal recessive diseases in Oman derived from a hospital-based registry. 25
15767751 2005
30
Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. 25
15126564 2004
31
Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. 25
12640189 2003
32
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. 25
11967537 2002
33
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. 25
10487716 1999
34
Protein Arginine Methyltransferase PRMT5 Regulates Fatty Acid Metabolism and Lipid Droplet Biogenesis in White Adipose Tissues. 61
33304767 2020
35
SEIPIN: A Key Factor for Nuclear Lipid Droplet Generation and Lipid Homeostasis. 61
33147895 2020
36
Clinical features of inherited neuropathy with BSCL2 mutations in Japan. 61
32108980 2020
37
Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligationā€‘dependent probe amplification in an infant with congenital generalized lipodystrophy. 61
32236581 2020
38
Berardinelli-Seip congenital lipodystrophy 2/SEIPIN determines brown adipose tissue maintenance and thermogenic programing. 61
32246911 2020
39
Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction. 61
32349771 2020
40
GPAT3 deficiency alleviates insulin resistance and hepatic steatosis in a mouse model of severe congenital generalized lipodystrophy. 61
31873720 2020
41
Acromegaly with congenital generalized lipodystrophy - two rare insulin resistance conditions in one patient: a case report. 61
32079542 2020
42
Heterozygous deletion of Seipin in islet beta cells of male mice has an impact on insulin synthesis and secretion through reduced PPARĪ³ expression. 61
31776610 2020
43
A Child with Lipemic Sample: Berardinelli-Seip Congenital Lipodystrophy. 61
32036838 2020
44
Berardinelli Seip Congenital Lipodystrophy Syndrome: 10 Year Follow-up. 61
31724546 2019
45
The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy. 61
31416577 2019
46
Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy. 61
31185001 2019
47
Promethin Is a Conserved Seipin Partner Protein. 61
30901948 2019
48
Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases. 61
30296183 2019
49
Novel metabolic disorders in skeletal muscle of Lipodystrophic Bscl2/Seipin deficient mice. 61
30521848 2019
50
Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects. 61
30208912 2018

Variations for Berardinelli-Seip Congenital Lipodystrophy

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

7
# CNVD ID Chromosome 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 LEP BSCL2 AGPAT2
2 10.65 LEP CAV1

GO Terms for Berardinelli-Seip Congenital Lipodystrophy

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.46 CAVIN1 CAV1 BSCL2 AGPAT2
2 lipid droplet GO:0005811 8.96 CAV1 BSCL2
3 caveola GO:0005901 8.62 CAVIN1 CAV1

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 LEP BSCL2 AGPAT2
2 positive regulation of cytokine production GO:0001819 9.26 LEP AGPAT2
3 lipid storage GO:0019915 9.16 CAV1 BSCL2
4 regulation of nitric-oxide synthase activity GO:0050999 8.96 LEP CAV1
5 positive regulation of cold-induced thermogenesis GO:0120162 8.8 LEP CAV1 BSCL2

Sources for Berardinelli-Seip Congenital Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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