BSCL
MCID: CNG012
MIFTS: 44

Congenital Generalized Lipodystrophy (BSCL) malady

Categories: Skin diseases, Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Muscle diseases

Aliases & Classifications for Congenital Generalized Lipodystrophy

Aliases & Descriptions for Congenital Generalized Lipodystrophy:

Name: Congenital Generalized Lipodystrophy 12 25 14
Lipodystrophy, Congenital Generalized 25 29 52
Generalized Lipodystrophy 25 29
Congenital Generalized Lipodystrophy Type 2 69
Berardinelli-Seip Congenital Lipodystrophy 25
Familial Generalized Lipodystrophy 69
Berardinelli-Seip Syndrome 25
Beradinelli-Seip Syndrome 12
Total Lipodystrophy 25
Brunzell Syndrome 25
Seip Syndrome 25
Bscl 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050585

Summaries for Congenital Generalized Lipodystrophy

Genetics Home Reference : 25 Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems.

MalaCards based summary : Congenital Generalized Lipodystrophy, also known as lipodystrophy, congenital generalized, is related to acquired generalized lipodystrophy and lipodystrophy, congenital generalized, type 1. An important gene associated with Congenital Generalized Lipodystrophy is AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2), and among its related pathways/superpathways are Cytoskeletal Signaling and Adipogenesis. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and bone, and related phenotypes are behavior/neurological and adipose tissue

Wikipedia : 71 Congenital generalized lipodystrophy (also known as Berardinelli–Seip syndrome) is an extremely rare... more...

Related Diseases for Congenital Generalized Lipodystrophy

Diseases in the Acquired Generalized Lipodystrophy family:

Lipodystrophy, Congenital Generalized, Type 3 Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Congenital Generalized, Type 2 Lipodystrophy, Congenital Generalized, Type 4
Congenital Generalized Lipodystrophy

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

(show all 46)
id Related Disease Score Top Affiliating Genes
1 acquired generalized lipodystrophy 12.3
2 lipodystrophy, congenital generalized, type 1 11.9
3 lipodystrophy, congenital generalized, type 4 11.9
4 lipodystrophy, congenital generalized, type 2 11.8
5 lipodystrophy, congenital generalized, type 3 11.8
6 berardinelli-seip congenital lipodystrophy 11.1
7 lipodystrophy 10.7
8 ceroid lipofuscinosis, neuronal, 13, kufs type 10.2 AGPAT2 BSCL2
9 maturity-onset diabetes of the young, type viii 10.1 AGPAT2 LMNA
10 multiple myeloma 10.1 BSCL2 LMNA
11 charcot-marie-tooth disease, type 2j 10.1 AGPAT2 BSCL2
12 pituitary adenoma, prolactin-secreting 10.0 BSCL2 LMNA
13 emery-dreifuss muscular dystrophy 3, ar 10.0 LEP LMNA
14 elejalde disease 10.0 AGPAT2 ZMPSTE24
15 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 CAV1 LMNA
16 leg dermatosis 10.0 LEP LMNA
17 ovarian stromal hyperthecosis 9.9 BSCL2 LMNA
18 muscular dystrophy-dystroglycanopathy , type a, 3 9.9 LMNA ZMPSTE24
19 thymus cancer 9.9 LMNA ZMPSTE24
20 heart-hand syndrome, slovenian type 9.9 LMNA ZMPSTE24
21 ventricular tachycardia, catecholaminergic polymorphic, 1 9.9 LMNA ZMPSTE24
22 harrod syndrome 9.8 LMNA ZMPSTE24
23 conotruncal heart malformations 9.8 BSCL2 LMNA
24 phosphoglycerate dehydrogenase deficiency 9.8 LMNA ZMPSTE24
25 diffuse lipomatosis 9.8 LMNA ZMPSTE24
26 chchd10-related disorders 9.8 AGPAT2 BSCL2 CAV1 LEP
27 hyperphosphatemia 9.7 AGPAT2 BSCL2 LEP LMNA
28 myopathy 9.7
29 progressive myoclonus epilepsy 9.7
30 amyloidosis 9.7
31 myocardial infarction 9.7
32 muscular dystrophy 9.7
33 myoclonus epilepsy 9.7
34 insulin-like growth factor i 9.7
35 cardiomyopathy 9.7
36 angiomatosis 9.7
37 dilated cardiomyopathy 9.7
38 myoclonus 9.7
39 gas gangrene 9.7
40 hepatitis 9.7
41 epilepsy 9.7
42 cervicitis 9.7
43 long qt syndrome 9.7
44 hutchinson-gilford progeria 9.6 AGPAT2 BSCL2 LMNA ZMPSTE24
45 tooth agenesis 9.0 AGPAT2 BSCL2 CAV1 CAVIN1 LEP LMNA
46 thymus clear cell carcinoma 9.0 AGPAT2 BSCL2 CAV1 CAVIN1 LEP LMNA

Graphical network of the top 20 diseases related to Congenital Generalized Lipodystrophy:



Diseases related to Congenital Generalized Lipodystrophy

Symptoms & Phenotypes for Congenital Generalized Lipodystrophy

MGI Mouse Phenotypes related to Congenital Generalized Lipodystrophy:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 AGPAT2 BSCL2 CAV1 CAVIN1 LEP LMNA
2 adipose tissue MP:0005375 10.05 BSCL2 CAV1 LEP LMNA ZMPSTE24 AGPAT2
3 growth/size/body region MP:0005378 10.05 AGPAT2 BSCL2 CAV1 CAVIN1 LEP LMNA
4 cardiovascular system MP:0005385 10.03 BSCL2 CAV1 CAVIN1 LEP LMNA ZMPSTE24
5 cellular MP:0005384 10.02 ZMPSTE24 BSCL2 CAV1 CAVIN1 LEP LMNA
6 homeostasis/metabolism MP:0005376 10.02 AGPAT2 BSCL2 CAV1 CAVIN1 LEP LMNA
7 digestive/alimentary MP:0005381 10.01 AGPAT2 BSCL2 CAV1 LEP LMNA ZMPSTE24
8 endocrine/exocrine gland MP:0005379 10 AGPAT2 BSCL2 CAV1 LEP LMNA ZMPSTE24
9 hematopoietic system MP:0005397 9.97 AGPAT2 BSCL2 CAV1 LEP LMNA ZMPSTE24
10 immune system MP:0005387 9.93 AGPAT2 BSCL2 CAV1 LEP LMNA ZMPSTE24
11 integument MP:0010771 9.91 ZMPSTE24 AGPAT2 BSCL2 CAV1 LEP LMNA
12 mortality/aging MP:0010768 9.87 AGPAT2 BSCL2 CAV1 CAVIN1 LEP LMNA
13 liver/biliary system MP:0005370 9.85 AGPAT2 BSCL2 CAV1 LEP LMNA ZMPSTE24
14 limbs/digits/tail MP:0005371 9.71 AGPAT2 LEP LMNA ZMPSTE24
15 renal/urinary system MP:0005367 9.7 AGPAT2 BSCL2 CAV1 CAVIN1 LEP LMNA
16 muscle MP:0005369 9.65 CAVIN1 LEP LMNA ZMPSTE24 CAV1
17 respiratory system MP:0005388 9.26 CAV1 CAVIN1 LEP LMNA
18 skeleton MP:0005390 9.02 AGPAT2 CAV1 LEP LMNA ZMPSTE24

Drugs & Therapeutics for Congenital Generalized Lipodystrophy

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

(show all 7)
id 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 Gastrointestinal Agents Phase 2
5 Laxatives Phase 2
6 Cathartics Phase 2
7
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


id Name Status NCT ID Phase
1 Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3
2 Compassionate Use of Metreleptin in Previously Treated People With Generalized Lipodystrophy Enrolling by invitation NCT02262832 Phase 3
3 Compassionate Use of Metreleptin in Previously Treated People With Partial Lipodystrophy Enrolling by invitation NCT02262806 Phase 3
4 Leptin to Treat Lipodystrophy Completed NCT00025883 Phase 2
5 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients Recruiting NCT02430077 Phase 2
6 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2
7 Identification of a New Gene Involved in Hereditary Lipodystrophy Completed NCT02056912
8 Lipodystrophy Connect Patient Registry Recruiting NCT02577952
9 Post Authorisation Safety Registry for US Patients With Generalised Lipodystrophy Treated With Metreleptin Not yet recruiting NCT02325674

Search NIH Clinical Center for Congenital Generalized Lipodystrophy

Genetic Tests for Congenital Generalized Lipodystrophy

Genetic tests related to Congenital Generalized Lipodystrophy:

id Genetic test Affiliating Genes
1 Congenital Generalized Lipodystrophy 29
2 Generalized Lipodystrophy 29

Anatomical Context for Congenital Generalized Lipodystrophy

MalaCards organs/tissues related to Congenital Generalized Lipodystrophy:

39
Skin, Liver, Bone, Adipocyte, Skeletal Muscle

Publications for Congenital Generalized Lipodystrophy

Articles related to Congenital Generalized Lipodystrophy:

(show top 50) (show all 100)
id Title Authors Year
1
Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. ( 26985241 )
2016
2
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4. ( 27167729 )
2016
3
Cardiac Manifestations of Congenital Generalized Lipodystrophy. ( 27766009 )
2016
4
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016
5
Successful cardiac transplantation in a patient with congenital generalized lipodystrophy. ( 26821845 )
2016
6
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study from Turkey. ( 27144933 )
2016
7
Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy. ( 27717241 )
2016
8
Clinical and mutational features of three Chinese children with congenital generalized lipodystrophy. ( 27612026 )
2016
9
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy. ( 27189019 )
2016
10
Maladaptative autophagy impairs adipose function in Congenital Generalized Lipodystrophy due to cavin-1 deficiency. ( 27144934 )
2016
11
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. ( 26072926 )
2015
12
Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family. ( 25721873 )
2015
13
Divergent metabolic phenotype between two sisters with congenital generalized lipodystrophy due to double AGPAT2 homozygous mutations. a clinical, genetic and in silico study. ( 24498038 )
2014
14
Bone mineral content in patients with congenital generalized lipodystrophy is unaffected by metreleptin replacement therapy. ( 25070319 )
2014
15
Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome. ( 24980513 )
2014
16
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family. ( 23659685 )
2013
17
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood. ( 23489663 )
2013
18
A mutation in the c-fos gene associated with congenital generalized lipodystrophy. ( 23919306 )
2013
19
Serous transformation of marrow of distal femoral epiphysis in a patient with congenital general lipodystrophy and spondylarthritis. ( 23764404 )
2013
20
Pregnancy in a woman with congenital generalized lipodystrophy: leptin's vital role in reproduction. ( 22270436 )
2012
21
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. ( 23430896 )
2012
22
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. ( 22902344 )
2012
23
Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). ( 22272673 )
2012
24
Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case. ( 21508592 )
2011
25
Serum retinol binding protein 4 is not decreased in congenital generalized lipodystrophy: a case series. ( 21779631 )
2011
26
Pathology of congenital generalized lipodystrophy in Agpat2-/- mice. ( 21051554 )
2011
27
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. ( 20300641 )
2010
28
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. ( 20684003 )
2010
29
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. ( 20638880 )
2010
30
A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene. ( 21126715 )
2010
31
Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy. ( 20854387 )
2010
32
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. ( 19226263 )
2009
33
Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). ( 19376819 )
2009
34
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations. ( 19438831 )
2009
35
[Congenital generalized lipodystrophy: a case report with neurological involvement]. ( 19026526 )
2009
36
Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. ( 19187773 )
2009
37
Lafora disease and congenital generalized lipodystrophy: a case report. ( 19951852 )
2009
38
Dilated cardiomyopathy and myocardial infarction secondary to congenital generalized lipodystrophy. ( 18612489 )
2008
39
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. ( 18698612 )
2008
40
Energy balance in congenital generalized lipodystrophy type I. ( 18640396 )
2008
41
Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene. ( 18690553 )
2008
42
Computed tomography findings of congenital generalized lipodystrophy: multiple nodular fatty liver and diffuse sclerosis of bones. ( 18026908 )
2007
43
Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. ( 18057387 )
2007
44
Long-term effects of recombinant human insulin-like growth factor I treatment on glucose and lipid metabolism and the growth of a patient with congenital generalized lipodystrophy. ( 16902264 )
2006
45
Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings. ( 15617555 )
2005
46
Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. ( 15629135 )
2005
47
Case 88: Congenital generalized lipodystrophy. ( 16244256 )
2005
48
Congenital generalized lipodystrophy in a 4 year old Chinese girl. ( 16269843 )
2005
49
Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. ( 15126564 )
2004
50
Genetic basis of congenital generalized lipodystrophy. ( 14557833 )
2004

Variations for Congenital Generalized Lipodystrophy

Expression for Congenital Generalized Lipodystrophy

Search GEO for disease gene expression data for Congenital Generalized Lipodystrophy.

Pathways for Congenital Generalized Lipodystrophy

Pathways related to Congenital Generalized Lipodystrophy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.61 CAV1 CAVIN1 LMNA
2 11.14 AGPAT2 BSCL2 LEP LMNA ZMPSTE24
3 10.85 CAV1 LEP

GO Terms for Congenital Generalized Lipodystrophy

Cellular components related to Congenital Generalized Lipodystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 integral component of endoplasmic reticulum membrane GO:0030176 9.26 BSCL2 ZMPSTE24
2 endoplasmic reticulum membrane GO:0005789 9.26 AGPAT2 BSCL2 CAV1 ZMPSTE24
3 caveola GO:0005901 9.16 CAV1 CAVIN1
4 endoplasmic reticulum GO:0005783 9.02 AGPAT2 BSCL2 CAV1 CAVIN1 ZMPSTE24

Biological processes related to Congenital Generalized Lipodystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.54 AGPAT2 BSCL2 LEP
2 positive regulation of cytokine production GO:0001819 9.32 AGPAT2 LEP
3 regulation of nitric-oxide synthase activity GO:0050999 9.26 CAV1 LEP
4 lipid storage GO:0019915 9.16 BSCL2 CAV1
5 nuclear envelope organization GO:0006998 8.96 LMNA ZMPSTE24
6 regulation of protein localization to nucleus GO:1900180 8.62 LEP LMNA

Sources for Congenital Generalized Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....