MCID: CNG012
MIFTS: 51

Congenital Generalized Lipodystrophy

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

Aliases & Classifications for Congenital Generalized Lipodystrophy

MalaCards integrated aliases for Congenital Generalized Lipodystrophy:

Name: Congenital Generalized Lipodystrophy 12 49 24 36 28 14
Berardinelli-Seip Congenital Lipodystrophy 49 24
Lipodystrophy, Congenital Generalized 24 51
Beradinelli-Seip Syndrome 12 49
Generalized Lipodystrophy 24 28
Brunzell Syndrome 49 24
Bscl 49 24
Congenital Generalized Lipodystrophy Type 2 69
Familial Partial Lipodystrophy, Type 2 69
Generalized Congenital Lipodystrophy 49
Familial Generalized Lipodystrophy 69
Lipoatrophic Diabetes Mellitus 69
Berardinelli-Seip Syndrome 24
Lipoatrophic Diabetes 49
Total Lipodystrophy 24
Seip Syndrome 24
Gcl 49

Classifications:



External Ids:

Disease Ontology 12 DOID:0050585
KEGG 36 H00419

Summaries for Congenital Generalized Lipodystrophy

NIH Rare Diseases : 49 Congenital generalized lipodystrophy is a rare disease characterized by a generalized lack of fat (adipose tissue) in the body. It is part of a group of diseases known as lipodystrophies. Signs and symptoms are noticed from birth (congenital) or early childhood and include high levels of fats (triglycerides) in the blood (hypertriglyceridemia) and insulin resistance (in which the body tissues are unable to respond to the hormone insulin that helps to regulate blood sugar levels) resulting in diabetes mellitus, abnormal accumulation of fat in the liver (liver steatosis) and the accumulation of fat in the heart causing a thickening of the heart muscle (hypertrophic cardiomyopathy), which can lead to a heart that does not work well (heart failure) and sudden death. Due to the almost total absence of fatty tissue and excessive growth of muscle tissue, the patients appear very muscular and have visible and prominent veins. They also have dark and thick skin in the body folds (acanthosis nigricans).  There are 4 types of the disease that are distinguished by the altered (mutated) genes and by some additional characteristic symptoms. People with type 1, caused by mutations in the AGPAT2 gene, may have cysts in the long bones of the arms and the legs after puberty. In type 2, which is caused by mutations in the BSCL2  gene, there may be intellectual disability. In type 3, caused by mutations in the CAV1 gene, affected people may have short stature and growth delay. Type 4, caused by mutations in the CAVIN1 gene, is associated with muscle weakness, developmental delay, joint anomalies, narrowing of the lower part of the stomach (pyloric stenosis), and severe heart arrhythmia that can lead to sudden death.  The inheritance of Berardinelli-Seip congenital lipodystrophy is autosomal recessive. Treatment consists on a fat restricted diet and diabetes control, and may also include leptin administration.  Last updated: 10/16/2017

MalaCards based summary : Congenital Generalized Lipodystrophy, also known as berardinelli-seip congenital lipodystrophy, is related to berardinelli-seip congenital lipodystrophy and lipodystrophy, familial partial, type 2, and has symptoms including myalgia 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 Glucose / Energy Metabolism. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skin, and related phenotypes are behavior/neurological and adipose tissue

Genetics Home Reference : 24 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.

Wikipedia : 72 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 2 Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Congenital Generalized, Type 3 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 top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 berardinelli-seip congenital lipodystrophy 30.7 AGPAT2 BSCL2 CAV1 LEP
2 lipodystrophy, familial partial, type 2 29.1 INS LEP LMNA
3 lipodystrophy 27.9 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
4 acquired generalized lipodystrophy 12.5
5 lipodystrophy, congenital generalized, type 2 12.1
6 lipodystrophy, congenital generalized, type 4 12.1
7 lipodystrophy, congenital generalized, type 1 12.1
8 lipodystrophy, congenital generalized, type 3 12.1
9 krabbe disease 11.2
10 spastic paraplegia 17, autosomal dominant 10.3 AGPAT2 BSCL2
11 pigmentation disease 10.2 AGPAT2 INS
12 adiposis dolorosa 10.2 AGPAT2 ZMPSTE24
13 endotheliitis 10.1
14 autosomal dominant limb-girdle muscular dystrophy 10.1 CAV1 LMNA
15 mandibuloacral dysplasia with type a lipodystrophy 10.0 LMNA ZMPSTE24
16 restrictive dermopathy, lethal 10.0 LMNA ZMPSTE24
17 acroosteolysis 10.0 LMNA ZMPSTE24
18 ovarian cystadenoma 10.0 LMNA ZMPSTE24
19 reynolds syndrome 10.0 LMNA ZMPSTE24
20 diabetes mellitus 10.0
21 hallermann-streiff syndrome 10.0 LMNA ZMPSTE24
22 hutchinson-gilford progeria syndrome 9.9 LMNA ZMPSTE24
23 abdominal obesity-metabolic syndrome quantitative trait locus 2 9.9 INS LEP
24 abdominal obesity-metabolic syndrome 1 9.9 INS LEP
25 lutheran suppressor, x-linked 9.8 INS LEP
26 fetal macrosomia 9.8 INS LEP
27 nonalcoholic steatohepatitis 9.8 INS LEP
28 prediabetes syndrome 9.8 INS LEP
29 apnea, obstructive sleep 9.8 INS LEP
30 alstrom syndrome 9.8 INS LEP
31 endocrine pancreas disease 9.8 INS LEP
32 anovulation 9.8 INS LEP
33 pancreas disease 9.8 INS LEP
34 blood group, i system 9.8
35 cardiac arrhythmia 9.8
36 multiple sclerosis 9.8
37 pulmonary hypertension, primary, 1 9.8
38 myoclonic epilepsy of lafora 9.8
39 insulin-like growth factor i 9.8
40 branchiootic syndrome 1 9.8
41 myocardial infarction 9.8
42 fatty liver disease, nonalcoholic 1 9.8
43 dilated cardiomyopathy 9.8
44 gas gangrene 9.8
45 hepatitis 9.8
46 epilepsy 9.8
47 cervicitis 9.8
48 long qt syndrome 9.8
49 myopathy 9.8
50 progressive myoclonus epilepsy 9.8

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



Diseases related to Congenital Generalized Lipodystrophy

Symptoms & Phenotypes for Congenital Generalized Lipodystrophy

UMLS symptoms related to Congenital Generalized Lipodystrophy:


myalgia

MGI Mouse Phenotypes related to Congenital Generalized Lipodystrophy:

43 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.17 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
2 adipose tissue MP:0005375 10.12 AGPAT2 BSCL2 CAV1 INS LEP LMNA
3 growth/size/body region MP:0005378 10.11 CAV1 CAVIN1 INS AGPAT2 BSCL2 LEP
4 cardiovascular system MP:0005385 10.1 BSCL2 CAV1 CAVIN1 INS LEP LMNA
5 cellular MP:0005384 10.09 BSCL2 CAV1 CAVIN1 INS LEP LMNA
6 digestive/alimentary MP:0005381 10.08 CAV1 INS LEP LMNA ZMPSTE24 AGPAT2
7 homeostasis/metabolism MP:0005376 10.08 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
8 endocrine/exocrine gland MP:0005379 10.07 AGPAT2 BSCL2 CAV1 INS LEP LMNA
9 hematopoietic system MP:0005397 10.04 AGPAT2 BSCL2 CAV1 INS LEP LMNA
10 immune system MP:0005387 10 AGPAT2 BSCL2 CAV1 INS LEP LMNA
11 integument MP:0010771 9.98 AGPAT2 BSCL2 CAV1 INS LEP LMNA
12 mortality/aging MP:0010768 9.92 INS LEP LMNA ZMPSTE24 AGPAT2 BSCL2
13 liver/biliary system MP:0005370 9.91 AGPAT2 BSCL2 CAV1 INS LEP LMNA
14 renal/urinary system MP:0005367 9.76 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
15 muscle MP:0005369 9.73 CAV1 CAVIN1 INS LEP LMNA ZMPSTE24
16 limbs/digits/tail MP:0005371 9.71 AGPAT2 LEP LMNA ZMPSTE24
17 reproductive system MP:0005389 9.35 BSCL2 CAV1 INS LEP LMNA
18 skeleton MP:0005390 9.1 AGPAT2 CAV1 INS LMNA ZMPSTE24 LEP

Drugs & Therapeutics for Congenital Generalized Lipodystrophy

Drugs for Congenital Generalized 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 Lipodystrophy Connect Patient Registry Recruiting NCT02577952

Search NIH Clinical Center for Congenital Generalized Lipodystrophy

Genetic Tests for Congenital Generalized Lipodystrophy

Genetic tests related to Congenital Generalized Lipodystrophy:

# Genetic test Affiliating Genes
1 Congenital Generalized Lipodystrophy 28
2 Generalized Lipodystrophy 28

Anatomical Context for Congenital Generalized Lipodystrophy

MalaCards organs/tissues related to Congenital Generalized Lipodystrophy:

38
Liver, Heart, Skin, Bone, Skeletal Muscle, Adipocyte

Publications for Congenital Generalized Lipodystrophy

Articles related to Congenital Generalized Lipodystrophy:

(show top 50) (show all 104)
# Title Authors Year
1
Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy. ( 29329523 )
2018
2
Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy. ( 28916377 )
2017
3
Normal bone density and trabecular bone score, but high serum sclerostin in congenital generalized lipodystrophy. ( 28390904 )
2017
4
Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area. ( 29264552 )
2017
5
Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. ( 26985241 )
2016
6
Maladaptative autophagy impairs adipose function in Congenital Generalized Lipodystrophy due to cavin-1 deficiency. ( 27144934 )
2016
7
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study from Turkey. ( 27144933 )
2016
8
Successful cardiac transplantation in a patient with congenital generalized lipodystrophy. ( 26821845 )
2016
9
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016
10
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4. ( 27167729 )
2016
11
Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy. ( 27717241 )
2016
12
Cardiac Manifestations of Congenital Generalized Lipodystrophy. ( 27766009 )
2016
13
Clinical and mutational features of three Chinese children with congenital generalized lipodystrophy. ( 27612026 )
2016
14
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy. ( 27189019 )
2016
15
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. ( 26072926 )
2015
16
Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family. ( 25721873 )
2015
17
Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome. ( 24980513 )
2014
18
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
19
Bone mineral content in patients with congenital generalized lipodystrophy is unaffected by metreleptin replacement therapy. ( 25070319 )
2014
20
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family. ( 23659685 )
2013
21
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood. ( 23489663 )
2013
22
A mutation in the c-fos gene associated with congenital generalized lipodystrophy. ( 23919306 )
2013
23
Serous transformation of marrow of distal femoral epiphysis in a patient with congenital general lipodystrophy and spondylarthritis. ( 23764404 )
2013
24
Pregnancy in a woman with congenital generalized lipodystrophy: leptin's vital role in reproduction. ( 22270436 )
2012
25
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. ( 22902344 )
2012
26
Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). ( 22272673 )
2012
27
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. ( 23430896 )
2012
28
Pathology of congenital generalized lipodystrophy in Agpat2-/- mice. ( 21051554 )
2011
29
Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case. ( 21508592 )
2011
30
Serum retinol binding protein 4 is not decreased in congenital generalized lipodystrophy: a case series. ( 21779631 )
2011
31
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. ( 20684003 )
2010
32
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
33
A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene. ( 21126715 )
2010
34
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. ( 20638880 )
2010
35
Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy. ( 20854387 )
2010
36
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations. ( 19438831 )
2009
37
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. ( 19226263 )
2009
38
Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. ( 19187773 )
2009
39
Lafora disease and congenital generalized lipodystrophy: a case report. ( 19951852 )
2009
40
[Congenital generalized lipodystrophy: a case report with neurological involvement]. ( 19026526 )
2009
41
Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). ( 19376819 )
2009
42
Energy balance in congenital generalized lipodystrophy type I. ( 18640396 )
2008
43
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. ( 18698612 )
2008
44
Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene. ( 18690553 )
2008
45
Dilated cardiomyopathy and myocardial infarction secondary to congenital generalized lipodystrophy. ( 18612489 )
2008
46
Computed tomography findings of congenital generalized lipodystrophy: multiple nodular fatty liver and diffuse sclerosis of bones. ( 18026908 )
2007
47
Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. ( 18057387 )
2007
48
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
49
Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings. ( 15617555 )
2005
50
Case 88: Congenital generalized lipodystrophy. ( 16244256 )
2005

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:

# Super pathways Score Top Affiliating Genes
1 11.99 CAV1 CAVIN1 LMNA
2 11.92 AGPAT2 BSCL2 INS
3 11.22 AGPAT2 BSCL2 INS LEP LMNA ZMPSTE24
4 10.83 CAV1 INS LEP
5 10.79 CAV1 INS

GO Terms for Congenital Generalized Lipodystrophy

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.26 AGPAT2 BSCL2 CAV1 ZMPSTE24
2 caveola GO:0005901 9.16 CAV1 CAVIN1
3 endoplasmic reticulum GO:0005783 9.02 AGPAT2 BSCL2 CAV1 CAVIN1 ZMPSTE24

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.65 CAV1 INS LMNA
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.46 INS LEP
3 glucose metabolic process GO:0006006 9.43 INS LEP
4 positive regulation of cytokine production GO:0001819 9.4 AGPAT2 LEP
5 regulation of nitric-oxide synthase activity GO:0050999 9.37 CAV1 LEP
6 lipid storage GO:0019915 9.32 BSCL2 CAV1
7 nuclear envelope organization GO:0006998 9.26 LMNA ZMPSTE24
8 negative regulation of lipid catabolic process GO:0050995 9.16 BSCL2 INS
9 positive regulation of insulin receptor signaling pathway GO:0046628 8.96 INS LEP
10 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....