GCL
MCID: CNG012
MIFTS: 48

Congenital Generalized Lipodystrophy (GCL)

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

Aliases & Classifications for Congenital Generalized Lipodystrophy

MalaCards integrated aliases for Congenital Generalized Lipodystrophy:

Name: Congenital Generalized Lipodystrophy 12 53 25 37 29 6 15
Berardinelli-Seip Congenital Lipodystrophy 53 25
Lipodystrophy, Congenital Generalized 25 55
Generalized Lipodystrophy 25 29
Brunzell Syndrome 53 25
Bscl 53 25
Congenital Generalized Lipodystrophy Type 2 73
Familial Partial Lipodystrophy, Type 2 73
Generalized Congenital Lipodystrophy 53
Familial Generalized Lipodystrophy 73
Lipoatrophic Diabetes Mellitus 73
Berardinelli-Seip Syndrome 25
Beradinelli-Seip Syndrome 53
Lipoatrophic Diabetes 53
Total Lipodystrophy 25
Seip Syndrome 25
Gcl 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0050585
KEGG 37 H00419

Summaries for Congenital Generalized Lipodystrophy

NIH Rare Diseases : 53 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. 

MalaCards based summary : Congenital Generalized Lipodystrophy, also known as berardinelli-seip congenital lipodystrophy, is related to lipodystrophy, congenital generalized, type 2 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 HIF-1-alpha transcription factor network. The drugs Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skin, and related phenotypes are behavior/neurological and cellular

Disease Ontology : 12 A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance and has material basis in mutation in the AGPAT2, BSCL2, CAV1 or PTRF genes.

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.

Wikipedia : 76 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 85)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, congenital generalized, type 2 33.2 AGPAT2 BSCL2 CAVIN1 LMNA
2 lipodystrophy, familial partial, type 2 33.2 AGPAT2 LEP LMNA
3 lipodystrophy, congenital generalized, type 4 33.0 AGPAT2 BSCL2 CAV1 CAVIN1 LMNA
4 lipodystrophy, congenital generalized, type 3 32.8 AGPAT2 BSCL2 CAV1 CAVIN1 FOS
5 lipodystrophy, congenital generalized, type 1 32.7 AGPAT2 BSCL2 LEP LMNA ZMPSTE24
6 complete generalized lipodystrophy 32.1 AGPAT2 BSCL2 CAV1 CAVIN1 LEP LMNA
7 berardinelli-seip congenital lipodystrophy 31.9 AGPAT2 BSCL2 CAV1 LEP
8 acquired generalized lipodystrophy 30.9 AGPAT2 BSCL2 CAV1 CAVIN1 LEP LMNA
9 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.4 AGPAT2 BSCL2 LMNA
10 acanthosis nigricans 29.6 LEP LMNA
11 generalized lipodystrophy-associated progeroid syndrome 12.3
12 aredyld 12.2
13 keppen-lubinsky syndrome 11.7
14 krabbe disease 11.4
15 mandibuloacral dysplasia with type b lipodystrophy 11.0
16 acute pancreatitis 10.5
17 pancreatitis 10.5
18 dystonia 10.5
19 depression 10.1
20 hyperglycemia 10.1
21 diabetes mellitus 10.1
22 spastic paraplegia 17, autosomal dominant 10.1 AGPAT2 BSCL2
23 adiposis dolorosa 10.1 AGPAT2 ZMPSTE24
24 mandibuloacral dysplasia with type a lipodystrophy 10.0 LMNA ZMPSTE24
25 restrictive dermopathy, lethal 10.0 LMNA ZMPSTE24
26 acroosteolysis 10.0 LMNA ZMPSTE24
27 autosomal dominant limb-girdle muscular dystrophy 10.0 CAV1 LMNA
28 ovarian cystadenoma 10.0 LMNA ZMPSTE24
29 reynolds syndrome 10.0 LMNA ZMPSTE24
30 lipodystrophy, familial partial, type 3 10.0 AGPAT2 BSCL2 LMNA
31 achalasia 10.0
32 childhood type dermatomyositis 10.0
33 ectodermal dysplasia 10.0
34 liver disease 10.0
35 dermatomyositis 10.0
36 rickets 10.0
37 ovarian disease 10.0
38 hypothalamic disease 10.0
39 retinal degeneration 10.0
40 neuropathy 10.0
41 nonalcoholic steatohepatitis 10.0
42 hereditary hypophosphatemic rickets 10.0
43 peripheral pulmonary stenosis 10.0
44 lymphoma 9.9
45 panniculitis 9.9
46 hallermann-streiff syndrome 9.9 LMNA ZMPSTE24
47 lipodystrophy, familial partial, type 1 9.9 LEP LMNA
48 cardiac arrhythmia 9.9
49 multiple sclerosis 9.9
50 pulmonary hypertension, primary, 1 9.9

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:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 AGPAT2 BSCL2 CAV1 CAVIN1 FOS LEP
2 cellular MP:0005384 10.14 BSCL2 CAV1 CAVIN1 FOS LEP LMNA
3 homeostasis/metabolism MP:0005376 10.11 AGPAT2 BSCL2 CAV1 CAVIN1 FOS LEP
4 growth/size/body region MP:0005378 10.1 AGPAT2 BSCL2 CAV1 CAVIN1 FOS LEP
5 endocrine/exocrine gland MP:0005379 10.05 AGPAT2 BSCL2 CAV1 FOS LEP LMNA
6 adipose tissue MP:0005375 10.04 AGPAT2 BSCL2 CAV1 LEP LMNA ZMPSTE24
7 cardiovascular system MP:0005385 10.02 BSCL2 CAV1 CAVIN1 LEP LMNA ZMPSTE24
8 hematopoietic system MP:0005397 10.02 AGPAT2 BSCL2 CAV1 FOS LEP LMNA
9 digestive/alimentary MP:0005381 10 AGPAT2 BSCL2 CAV1 LEP LMNA ZMPSTE24
10 immune system MP:0005387 9.98 AGPAT2 BSCL2 CAV1 FOS LEP LMNA
11 integument MP:0010771 9.95 AGPAT2 BSCL2 CAV1 FOS LEP LMNA
12 liver/biliary system MP:0005370 9.87 AGPAT2 BSCL2 CAV1 LEP LMNA NHLRC1
13 mortality/aging MP:0010768 9.86 AGPAT2 BSCL2 CAV1 CAVIN1 FOS LEP
14 limbs/digits/tail MP:0005371 9.77 AGPAT2 FOS LEP LMNA ZMPSTE24
15 muscle MP:0005369 9.63 CAV1 CAVIN1 LEP LMNA NHLRC1 ZMPSTE24
16 renal/urinary system MP:0005367 9.5 AGPAT2 BSCL2 CAV1 CAVIN1 LEP LMNA
17 skeleton MP:0005390 9.17 AGPAT2 BSCL2 CAV1 FOS LEP LMNA

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, Globin Zinc Phase 2, Phase 3
2 insulin Phase 2, Phase 3
3
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
4 Cathartics Phase 2
5 Laxatives Phase 2
6 Gastrointestinal Agents 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 Registry for Patients With Lipodystrophy Recruiting NCT03553420
9 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 29
2 Generalized Lipodystrophy 29

Anatomical Context for Congenital Generalized Lipodystrophy

MalaCards organs/tissues related to Congenital Generalized Lipodystrophy:

41
Liver, Heart, Skin, Bone, Skeletal Muscle, Adipocyte

Publications for Congenital Generalized Lipodystrophy

Articles related to Congenital Generalized Lipodystrophy:

(show top 50) (show all 110)
# Title Authors Year
1
Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy. ( 29883474 )
2018
2
Congenital generalized lipodystrophy in Taiwan. ( 29478747 )
2018
3
Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy. ( 29329523 )
2018
4
Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects. ( 30208912 )
2018
5
Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants. ( 30266686 )
2018
6
Post Mortem Findings in a Young Male with Congenital Generalized Lipodystrophy, Type 4 due to CAVIN1 mutations. ( 30476128 )
2018
7
Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area. ( 29264552 )
2017
8
Normal bone density and trabecular bone score, but high serum sclerostin in congenital generalized lipodystrophy. ( 28390904 )
2017
9
Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy. ( 28916377 )
2017
10
Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. ( 26985241 )
2016
11
Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy. ( 27717241 )
2016
12
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study from Turkey. ( 27144933 )
2016
13
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4. ( 27167729 )
2016
14
Cardiac Manifestations of Congenital Generalized Lipodystrophy. ( 27766009 )
2016
15
Successful cardiac transplantation in a patient with congenital generalized lipodystrophy. ( 26821845 )
2016
16
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy. ( 27189019 )
2016
17
Maladaptative autophagy impairs adipose function in Congenital Generalized Lipodystrophy due to cavin-1 deficiency. ( 27144934 )
2016
18
Clinical and mutational features of three Chinese children with congenital generalized lipodystrophy. ( 27612026 )
2016
19
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016
20
Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family. ( 25721873 )
2015
21
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. ( 26072926 )
2015
22
Bone mineral content in patients with congenital generalized lipodystrophy is unaffected by metreleptin replacement therapy. ( 25070319 )
2014
23
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
24
Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome. ( 24980513 )
2014
25
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family. ( 23659685 )
2013
26
A mutation in the c-fos gene associated with congenital generalized lipodystrophy. ( 23919306 )
2013
27
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood. ( 23489663 )
2013
28
Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). ( 22272673 )
2012
29
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. ( 23430896 )
2012
30
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. ( 22902344 )
2012
31
Pregnancy in a woman with congenital generalized lipodystrophy: leptin's vital role in reproduction. ( 22270436 )
2012
32
Serum retinol binding protein 4 is not decreased in congenital generalized lipodystrophy: a case series. ( 21779631 )
2011
33
Pathology of congenital generalized lipodystrophy in Agpat2-/- mice. ( 21051554 )
2011
34
Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case. ( 21508592 )
2011
35
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. ( 20684003 )
2010
36
A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene. ( 21126715 )
2010
37
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. ( 20638880 )
2010
38
Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy. ( 20854387 )
2010
39
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
40
Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. ( 19187773 )
2009
41
[Congenital generalized lipodystrophy: a case report with neurological involvement]. ( 19026526 )
2009
42
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. ( 19226263 )
2009
43
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations. ( 19438831 )
2009
44
Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). ( 19376819 )
2009
45
Lafora disease and congenital generalized lipodystrophy: a case report. ( 19951852 )
2009
46
Dilated cardiomyopathy and myocardial infarction secondary to congenital generalized lipodystrophy. ( 18612489 )
2008
47
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. ( 18698612 )
2008
48
Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene. ( 18690553 )
2008
49
Energy balance in congenital generalized lipodystrophy type I. ( 18640396 )
2008
50
Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. ( 18057387 )
2007

Variations for Congenital Generalized Lipodystrophy

ClinVar genetic disease variations for Congenital Generalized Lipodystrophy:

6 (show top 50) (show all 148)
# Gene Variation Type Significance SNP ID Assembly Location
1 AGPAT2 NM_006412.3(AGPAT2): c.317-7C> T single nucleotide variant Benign/Likely benign rs74584184 GRCh37 Chromosome 9, 139571595: 139571595
2 AGPAT2 NM_006412.3(AGPAT2): c.317-7C> T single nucleotide variant Benign/Likely benign rs74584184 GRCh38 Chromosome 9, 136677143: 136677143
3 BSCL2 NM_032667.6(BSCL2): c.1088T> C (p.Leu363Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs145649423 GRCh38 Chromosome 11, 62690476: 62690476
4 BSCL2 NM_032667.6(BSCL2): c.1088T> C (p.Leu363Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs145649423 GRCh37 Chromosome 11, 62457948: 62457948
5 BSCL2 NM_032667.6(BSCL2): c.945A> G (p.Glu315=) single nucleotide variant Benign rs6856 GRCh37 Chromosome 11, 62458275: 62458275
6 BSCL2 NM_032667.6(BSCL2): c.945A> G (p.Glu315=) single nucleotide variant Benign rs6856 GRCh38 Chromosome 11, 62690803: 62690803
7 BSCL2 NM_001130702.2(BSCL2): c.833C> T (p.Pro278Leu) single nucleotide variant Likely benign rs17850877 GRCh38 Chromosome 11, 62690679: 62690679
8 BSCL2 NM_001130702.2(BSCL2): c.833C> T (p.Pro278Leu) single nucleotide variant Likely benign rs17850877 GRCh37 Chromosome 11, 62458151: 62458151
9 BSCL2 NM_032667.6(BSCL2): c.908C> T (p.Pro303Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144245125 GRCh37 Chromosome 11, 62458312: 62458312
10 BSCL2 NM_032667.6(BSCL2): c.908C> T (p.Pro303Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144245125 GRCh38 Chromosome 11, 62690840: 62690840
11 BSCL2 NM_032667.6(BSCL2): c.396C> T (p.Cys132=) single nucleotide variant Conflicting interpretations of pathogenicity rs369806785 GRCh38 Chromosome 11, 62694610: 62694610
12 BSCL2 NM_032667.6(BSCL2): c.396C> T (p.Cys132=) single nucleotide variant Conflicting interpretations of pathogenicity rs369806785 GRCh37 Chromosome 11, 62462082: 62462082
13 BSCL2 NM_032667.6(BSCL2): c.553G> A (p.Ala185Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs10776 GRCh38 Chromosome 11, 62692683: 62692683
14 BSCL2 NM_032667.6(BSCL2): c.553G> A (p.Ala185Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs10776 GRCh37 Chromosome 11, 62460155: 62460155
15 BSCL2 NM_032667.6(BSCL2): c.256G> A (p.Val86Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149412531 GRCh38 Chromosome 11, 62702506: 62702506
16 BSCL2 NM_032667.6(BSCL2): c.256G> A (p.Val86Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149412531 GRCh37 Chromosome 11, 62469978: 62469978
17 AGPAT2 NM_006412.3(AGPAT2): c.345C> T (p.Cys115=) single nucleotide variant Benign/Likely benign rs73668354 GRCh38 Chromosome 9, 136677108: 136677108
18 AGPAT2 NM_006412.3(AGPAT2): c.345C> T (p.Cys115=) single nucleotide variant Benign/Likely benign rs73668354 GRCh37 Chromosome 9, 139571560: 139571560
19 AGPAT2 NM_006412.3(AGPAT2): c.49_51dupCTG (p.Leu17_Val18insLeu) duplication Benign/Likely benign rs768646064 GRCh37 Chromosome 9, 139581759: 139581761
20 AGPAT2 NM_006412.3(AGPAT2): c.49_51dupCTG (p.Leu17_Val18insLeu) duplication Benign/Likely benign rs768646064 GRCh38 Chromosome 9, 136687307: 136687309
21 BSCL2 NM_001122955.3(BSCL2): c.765+15C> T single nucleotide variant Benign rs79586077 GRCh38 Chromosome 11, 62692648: 62692648
22 BSCL2 NM_001122955.3(BSCL2): c.765+15C> T single nucleotide variant Benign rs79586077 GRCh37 Chromosome 11, 62460120: 62460120
23 BSCL2 NM_001122955.3(BSCL2): c.486+11G> T single nucleotide variant Benign rs72929434 GRCh38 Chromosome 11, 62702457: 62702457
24 BSCL2 NM_001122955.3(BSCL2): c.486+11G> T single nucleotide variant Benign rs72929434 GRCh37 Chromosome 11, 62469929: 62469929
25 AGPAT2 NM_006412.3(AGPAT2): c.*535C> T single nucleotide variant Likely benign rs138670030 GRCh37 Chromosome 9, 139567669: 139567669
26 AGPAT2 NM_006412.3(AGPAT2): c.*535C> T single nucleotide variant Likely benign rs138670030 GRCh38 Chromosome 9, 136673217: 136673217
27 AGPAT2 NM_006412.3(AGPAT2): c.*442C> G single nucleotide variant Benign rs6951 GRCh37 Chromosome 9, 139567762: 139567762
28 AGPAT2 NM_006412.3(AGPAT2): c.*442C> G single nucleotide variant Benign rs6951 GRCh38 Chromosome 9, 136673310: 136673310
29 AGPAT2 NM_006412.3(AGPAT2): c.*418G> A single nucleotide variant Uncertain significance rs886063718 GRCh37 Chromosome 9, 139567786: 139567786
30 AGPAT2 NM_006412.3(AGPAT2): c.*418G> A single nucleotide variant Uncertain significance rs886063718 GRCh38 Chromosome 9, 136673334: 136673334
31 AGPAT2 NM_006412.3(AGPAT2): c.*239G> A single nucleotide variant Likely benign rs56310643 GRCh37 Chromosome 9, 139567965: 139567965
32 AGPAT2 NM_006412.3(AGPAT2): c.*239G> A single nucleotide variant Likely benign rs56310643 GRCh38 Chromosome 9, 136673513: 136673513
33 AGPAT2 NM_006412.3(AGPAT2): c.*217G> A single nucleotide variant Uncertain significance rs886063720 GRCh37 Chromosome 9, 139567987: 139567987
34 AGPAT2 NM_006412.3(AGPAT2): c.*217G> A single nucleotide variant Uncertain significance rs886063720 GRCh38 Chromosome 9, 136673535: 136673535
35 AGPAT2 NM_006412.3(AGPAT2): c.*212_*217dupGGCTCG duplication Likely benign rs145169122 GRCh37 Chromosome 9, 139567987: 139567992
36 AGPAT2 NM_006412.3(AGPAT2): c.*212_*217dupGGCTCG duplication Likely benign rs145169122 GRCh38 Chromosome 9, 136673535: 136673540
37 AGPAT2 NM_006412.3(AGPAT2): c.820G> A (p.Val274Met) single nucleotide variant Uncertain significance rs368902934 GRCh37 Chromosome 9, 139568221: 139568221
38 AGPAT2 NM_006412.3(AGPAT2): c.820G> A (p.Val274Met) single nucleotide variant Uncertain significance rs368902934 GRCh38 Chromosome 9, 136673769: 136673769
39 AGPAT2 NM_006412.3(AGPAT2): c.662-5C> G single nucleotide variant Uncertain significance rs199964729 GRCh37 Chromosome 9, 139568384: 139568384
40 AGPAT2 NM_006412.3(AGPAT2): c.662-5C> G single nucleotide variant Uncertain significance rs199964729 GRCh38 Chromosome 9, 136673932: 136673932
41 AGPAT2 NM_006412.3(AGPAT2): c.189C> T (p.Ile63=) single nucleotide variant Likely benign rs150180733 GRCh37 Chromosome 9, 139572002: 139572002
42 AGPAT2 NM_006412.3(AGPAT2): c.189C> T (p.Ile63=) single nucleotide variant Likely benign rs150180733 GRCh38 Chromosome 9, 136677550: 136677550
43 AGPAT2 NM_006412.3(AGPAT2): c.-61G> C single nucleotide variant Uncertain significance rs886063725 GRCh38 Chromosome 9, 136687418: 136687418
44 AGPAT2 NM_006412.3(AGPAT2): c.-61G> C single nucleotide variant Uncertain significance rs886063725 GRCh37 Chromosome 9, 139581870: 139581870
45 AGPAT2 NM_006412.3(AGPAT2): c.-62G> A single nucleotide variant Uncertain significance rs566958496 GRCh38 Chromosome 9, 136687419: 136687419
46 AGPAT2 NM_006412.3(AGPAT2): c.-62G> A single nucleotide variant Uncertain significance rs566958496 GRCh37 Chromosome 9, 139581871: 139581871
47 AGPAT2 NM_006412.3(AGPAT2): c.-67G> C single nucleotide variant Likely benign rs146341067 GRCh38 Chromosome 9, 136687424: 136687424
48 AGPAT2 NM_006412.3(AGPAT2): c.-67G> C single nucleotide variant Likely benign rs146341067 GRCh37 Chromosome 9, 139581876: 139581876
49 AGPAT2 NM_006412.3(AGPAT2): c.*201G> C single nucleotide variant Uncertain significance rs567964604 GRCh37 Chromosome 9, 139568003: 139568003
50 AGPAT2 NM_006412.3(AGPAT2): c.*201G> C single nucleotide variant Uncertain significance rs567964604 GRCh38 Chromosome 9, 136673551: 136673551

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 11.18 FOS LEP
3 11.14 AGPAT2 BSCL2 LEP LMNA ZMPSTE24
4 10.96 CAV1 LEP
5
Show member pathways
10.63 FOS LEP
6 10.3 CAV1 FOS

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 endoplasmic reticulum GO:0005783 9.17 AGPAT2 BSCL2 CAV1 CAVIN1 FOS NHLRC1
3 caveola GO:0005901 9.16 CAV1 CAVIN1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein ubiquitination GO:0031398 9.46 CAV1 NHLRC1
2 response to progesterone GO:0032570 9.43 CAV1 FOS
3 nucleus organization GO:0006997 9.4 LMNA ZMPSTE24
4 positive regulation of cytokine production GO:0001819 9.37 AGPAT2 LEP
5 lipid storage GO:0019915 9.32 BSCL2 CAV1
6 regulation of nitric-oxide synthase activity GO:0050999 9.26 CAV1 LEP
7 nuclear envelope organization GO:0006998 9.16 LMNA ZMPSTE24
8 positive regulation of cold-induced thermogenesis GO:0120162 9.13 BSCL2 CAV1 LEP
9 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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