GCL
MCID: BRR012
MIFTS: 49

Berardinelli-Seip Congenital Lipodystrophy (GCL)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Berardinelli-Seip Congenital Lipodystrophy

MalaCards integrated aliases for Berardinelli-Seip Congenital Lipodystrophy:

Name: Berardinelli-Seip Congenital Lipodystrophy 24 58 29
Berardinelli-Seip Congenital Generalized Lipodystrophy 24
Generalized Congenital Lipodystrophy 58
Familial Generalized Lipodystrophy 71
Berardinelli-Seip Syndrome 58
Lipoatrophic Diabetes 58
Bscl 58
Gcl 58

Characteristics:

Orphanet epidemiological data:

58
berardinelli-seip congenital lipodystrophy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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 1 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 Glucose / Energy Metabolism and Signaling events mediated by PTP1B. The drugs Propoxycaine and Proxymetacaine have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and skin, and related phenotypes are hepatomegaly and prominent supraorbital ridges

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 146)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, congenital generalized, type 1 33.0 PPARG LEP BSCL2 AGPAT2
2 lipodystrophy, congenital generalized, type 3 32.9 CAVIN1 CAV1 BSCL2 AGPAT2
3 lipodystrophy, congenital generalized, type 4 32.9 CAVIN1 CAV1 BSCL2 AGPAT2
4 lipodystrophy, familial partial, type 2 32.3 PPARG LEP CAVIN1 BSCL2 AGPAT2
5 acquired generalized lipodystrophy 32.0 LEP CAVIN1 BSCL2 AGPAT2
6 lipodystrophy, congenital generalized, type 2 31.8 PPARG LEP CAVIN1 CAV1 BSCL2 AGPAT2
7 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 31.7 LEP BSCL2 AGPAT2
8 spastic paraplegia 17, autosomal dominant 30.9 BSCL2 AGPAT2
9 congenital generalized lipodystrophy 30.9 PPARG LEP HNRNPUL2-BSCL2 FOS CAVIN1 CAV1
10 autosomal dominant distal hereditary motor neuronopathy 30.8 BSCL2 AGPAT2
11 acanthosis nigricans 30.8 PPARG LEP
12 neuronopathy, distal hereditary motor, type va 30.5 BSCL2 AGPAT2
13 acquired lipodystrophy 30.4 CAV1 BSCL2
14 hyperinsulinism 30.3 PPARG LEPQTL1 LEP
15 diabetes mellitus, noninsulin-dependent 27.8 PPARG LEPQTL1 LEP FOS BSCL2 AGPAT2
16 aredyld 12.3
17 krabbe disease 11.5
18 glutamate-cysteine ligase deficiency 11.3
19 autosomal recessive disease 10.9
20 diabetes mellitus 10.8
21 hypertriglyceridemia, familial 10.8
22 hypertrophic cardiomyopathy 10.7
23 fatty liver disease, nonalcoholic 1 10.7
24 muscle hypertrophy 10.6
25 hyperandrogenism 10.6
26 lipid metabolism disorder 10.6
27 polycystic ovary syndrome 10.5
28 epilepsy 10.5
29 acromegaly 10.5
30 pulmonary fibrosis 10.4
31 body mass index quantitative trait locus 1 10.4
32 charcot-marie-tooth disease 10.4
33 tooth disease 10.4
34 hereditary spastic paraplegia 10.4
35 acute pancreatitis 10.4
36 hyperglycemia 10.4
37 hypertrichosis 10.4
38 pancreatitis 10.4
39 dystonia 10.4
40 axonal neuropathy 10.4
41 bscl2-related neurologic disorders/seipinopathy 10.4
42 heritable pulmonary arterial hypertension 10.4
43 trpv4-associated disorders 10.4
44 precocious puberty 10.4
45 spastic paraparesis 10.4
46 splenomegaly 10.4
47 spasticity 10.4
48 hypoglycemia 10.3
49 sotos syndrome 1 10.3
50 myoclonic epilepsy of unverricht and lundborg 10.3

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:

58 31 (show top 50) (show all 87)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
2 prominent supraorbital ridges 58 31 hallmark (90%) Occasional (29-5%) HP:0000336
3 mandibular prognathia 58 31 hallmark (90%) Occasional (29-5%) HP:0000303
4 hypertriglyceridemia 58 31 hallmark (90%) Frequent (79-30%) HP:0002155
5 hyperinsulinemia 58 31 hallmark (90%) Occasional (29-5%) HP:0000842
6 skeletal muscle hypertrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003712
7 large hands 58 31 hallmark (90%) Occasional (29-5%) HP:0001176
8 accelerated skeletal maturation 58 31 hallmark (90%) Occasional (29-5%) HP:0005616
9 insulin resistance 58 31 hallmark (90%) Very frequent (99-80%) HP:0000855
10 lipoatrophy 31 hallmark (90%) HP:0100578
11 broad foot 31 hallmark (90%) HP:0001769
12 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
13 hypertrophic cardiomyopathy 58 31 frequent (33%) Occasional (29-5%) HP:0001639
14 bone cyst 58 31 frequent (33%) Occasional (29-5%) HP:0012062
15 delayed skeletal maturation 31 frequent (33%) HP:0002750
16 flexion contracture 31 frequent (33%) HP:0001371
17 myopathy 31 frequent (33%) HP:0003198
18 hyperhidrosis 31 frequent (33%) HP:0000975
19 abnormality of skin pigmentation 31 frequent (33%) HP:0001000
20 elevated hepatic transaminase 31 frequent (33%) HP:0002910
21 muscle stiffness 31 frequent (33%) HP:0003552
22 generalized hirsutism 31 frequent (33%) HP:0002230
23 precocious puberty 31 frequent (33%) HP:0000826
24 hepatic failure 31 frequent (33%) HP:0001399
25 progressive proximal muscle weakness 31 frequent (33%) HP:0009073
26 atherosclerosis 31 frequent (33%) HP:0002621
27 growth hormone excess 31 frequent (33%) HP:0000845
28 loss of subcutaneous adipose tissue in limbs 31 frequent (33%) HP:0003635
29 exercise-induced myalgia 31 frequent (33%) HP:0003738
30 palpitations 31 frequent (33%) HP:0001962
31 prolonged qtc interval 31 frequent (33%) HP:0005184
32 abnormal circulating creatine kinase concentration 31 frequent (33%) HP:0040081
33 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
34 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
35 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
36 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
37 polycystic ovaries 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000147
38 diabetes mellitus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000819
39 acanthosis nigricans 58 31 occasional (7.5%) Occasional (29-5%) HP:0000956
40 oligomenorrhea 58 31 occasional (7.5%) Very rare (<4-1%) HP:0000876
41 splenomegaly 31 occasional (7.5%) HP:0001744
42 scoliosis 31 occasional (7.5%) HP:0002650
43 nephropathy 31 occasional (7.5%) HP:0000112
44 renal insufficiency 31 occasional (7.5%) HP:0000083
45 immunodeficiency 31 occasional (7.5%) HP:0002721
46 peripheral neuropathy 31 occasional (7.5%) HP:0009830
47 hyperlordosis 31 occasional (7.5%) HP:0003307
48 myocardial infarction 31 occasional (7.5%) HP:0001658
49 pulmonary arterial hypertension 31 occasional (7.5%) HP:0002092
50 osteopenia 31 occasional (7.5%) HP:0000938

MGI Mouse Phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.95 AGPAT2 BSCL2 CAV1 CAVIN1 FOS LEP
2 adipose tissue MP:0005375 9.91 AGPAT2 BSCL2 CAV1 FOS LEP PPARG
3 growth/size/body region MP:0005378 9.87 AGPAT2 BSCL2 CAV1 CAVIN1 FOS LEP
4 endocrine/exocrine gland MP:0005379 9.85 AGPAT2 BSCL2 CAV1 FOS LEP PPARG
5 integument MP:0010771 9.73 AGPAT2 BSCL2 CAV1 FOS LEP PPARG
6 liver/biliary system MP:0005370 9.55 AGPAT2 BSCL2 CAV1 LEP PPARG
7 renal/urinary system MP:0005367 9.43 AGPAT2 BSCL2 CAV1 CAVIN1 LEP PPARG
8 skeleton MP:0005390 9.1 AGPAT2 BSCL2 CAV1 FOS LEP PPARG

Drugs & Therapeutics for Berardinelli-Seip Congenital Lipodystrophy

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Propoxycaine Approved Phase 4 86-43-1
2 Proxymetacaine Phase 4
3 Anesthetics Phase 4
4 Pharmaceutical Solutions Phase 4
5 Anesthetics, Local Phase 4
6
Empagliflozin Approved Phase 3 864070-44-0
7 Insulin, Globin Zinc Phase 3
8 Hypoglycemic Agents Phase 3
9 Sodium-Glucose Transporter 2 Inhibitors Phase 3
10 insulin Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Anesthetic Impregnated Bandage Soft Contact Lens (BSCL) in Pain Management After Photorefractive Keratectomy (PRK). Not yet recruiting NCT04283331 Phase 4 Proparacaine Ophthalmic
2 A Multicenter, Open-label, Single-arm, Extension Study With Regard to the Safety and Efficacy of Empagliflozin in Patients With Refractory Diabetes Mellitus With Insulin Resistance (EMPIRE-02) Recruiting NCT04221152 Phase 3 Empagliflozin Tablets
3 A Multicenter, Open-label, Single-arm Study With Regard to the Efficacy and Safety of Empagliflozin in Patients With Refractory Diabetes Mellitus With Insulin Resistance Recruiting NCT04018365 Phase 3 Empagliflozin Tablets
4 An Open-label Phase 2 Study of ISIS 703802 (AKCEA-ANGPTL3-LRx) Administered Subcutaneously to Subjects With Familial Partial Lipodystrophy Completed NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
5 Efficacy of Leptin Replacement in Treatment of Lipodystrophy Completed NCT00005905 Phase 2 hu Leptin (A-100)
6 Long-Term Efficacy of Leptin Replacement in Treatment of Lipodystrophy Completed NCT00025883 Phase 2 Metreleptin
7 Lipodystrophy Connect Patient Registry Completed NCT02577952
8 The Expression Levels of Diadenosine Polyphosphates and Mucin in Mechanical Stress-related Ocular Surface Disorders Recruiting NCT03731624
9 Interdisciplinary, Web-based Trans Health Care / i2TransHealth / Randomized Control Trial Not yet recruiting NCT04290286

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 29

Anatomical Context for Berardinelli-Seip Congenital Lipodystrophy

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

40
Bone, Skeletal Muscle, Skin, Adipocyte, Heart, Ovary, Liver

Publications for Berardinelli-Seip Congenital Lipodystrophy

Articles related to Berardinelli-Seip Congenital Lipodystrophy:

(show top 50) (show all 298)
# Title Authors PMID Year
1
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. 61 6 24
19041432 2009
2
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. 6 61 24
18211975 2008
3
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. 61 24 6
15181077 2004
4
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. 6 61 24
11479539 2001
5
Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. 6 24
15126564 2004
6
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. 24 6
11967537 2002
7
Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. 6 61
18057387 2007
8
The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. 6 61
18093937 2007
9
Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. 6 61
14715872 2004
10
Berardinelli-Seip Congenital Lipodystrophy 61 6
20301391 2003
11
Towards a mechanistic understanding of lipodystrophy and seipin functions. 24 61
25195639 2014
12
Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy. 61 24
23647707 2013
13
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. 24 61
18698612 2008
14
The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. 61 24
18458148 2008
15
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 24 61
14981520 2004
16
Genetic basis of congenital generalized lipodystrophy. 61 24
14557833 2004
17
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. 61 24
14557463 2003
18
Prevalence of mutations in AGPAT2 among human lipodystrophies. 24 61
12765973 2003
19
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. 61 24
12362029 2002
20
Cardiomyopathy in congenital complete lipodystrophy. 6
12030893 2002
21
Leptin in congenital and HIV-associated lipodystrophy. 24
25267014 2015
22
A new seipin-associated neurodegenerative syndrome. 24
23564749 2013
23
Seipin regulates excitatory synaptic transmission in cortical neurons. 24
23173741 2013
24
Seipin: from human disease to molecular mechanism. 24
22474068 2012
25
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. 24
23430896 2012
26
Clinical review#: Lipodystrophies: genetic and acquired body fat disorders. 24
21865368 2011
27
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. 24
20979188 2010
28
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. 24
20684003 2010
29
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. 24
20300641 2010
30
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. 24
19226263 2009
31
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. 24
19726876 2009
32
Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 24
18790819 2009
33
Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy. 24
17671040 2007
34
Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy. 24
17118991 2007
35
Genetic disorders of adipose tissue development, differentiation, and death. 24
16722806 2006
36
Common autosomal recessive diseases in Oman derived from a hospital-based registry. 24
15767751 2005
37
Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. 24
12640189 2003
38
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. 24
10487716 1999
39
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
40
Clinical features of inherited neuropathy with BSCL2 mutations in Japan. 61
32108980 2020
41
Berardinelli-Seip congenital lipodystrophy 2/SEIPIN determines brown adipose tissue maintenance and thermogenic programing. 61
32246911 2020
42
Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction. 61
32349771 2020
43
A Child with Lipemic Sample: Berardinelli-Seip Congenital Lipodystrophy. 61
32036838 2020
44
Acromegaly with congenital generalized lipodystrophy - two rare insulin resistance conditions in one patient: a case report. 61
32079542 2020
45
GPAT3 deficiency alleviates insulin resistance and hepatic steatosis in a mouse model of severe congenital generalized lipodystrophy. 61
31873720 2020
46
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
47
Berardinelli Seip Congenital Lipodystrophy Syndrome: 10 Year Follow-up. 61
31724546 2019
48
The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy. 61
31416577 2019
49
Targeting ATGL to rescue BSCL2 lipodystrophy and its associated cardiomyopathy. 61
31185001 2019
50
Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases. 61
30296183 2019

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 12.03 PPARG BSCL2 AGPAT2
2 11.1 LEP CAV1
3 11.04 PPARG LEP BSCL2 AGPAT2
4
Show member pathways
10.8 LEP FOS
5 10.65 PPARG LEP
6 10.5 PPARG LEP
7 10.3 FOS 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 9.02 FOS CAVIN1 CAV1 BSCL2 AGPAT2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.7 PPARG FOS AGPAT2
2 lipid metabolic process GO:0006629 9.62 PPARG LEP BSCL2 AGPAT2
3 placenta development GO:0001890 9.51 PPARG LEP
4 response to progesterone GO:0032570 9.49 FOS CAV1
5 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.48 PPARG FOS
6 response to cold GO:0009409 9.46 PPARG FOS
7 positive regulation of cytokine production GO:0001819 9.43 LEP AGPAT2
8 lipid storage GO:0019915 9.4 CAV1 BSCL2
9 response to immobilization stress GO:0035902 9.37 PPARG FOS
10 regulation of nitric-oxide synthase activity GO:0050999 9.26 LEP CAV1
11 regulation of fat cell differentiation GO:0045598 9.16 PPARG LEP
12 positive regulation of cold-induced thermogenesis GO:0120162 9.13 LEP CAV1 BSCL2
13 cellular response to hyperoxia GO:0071455 8.62 PPARG CAV1

Sources for Berardinelli-Seip Congenital Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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