MCID: CNG012
MIFTS: 50

Congenital Generalized Lipodystrophy

Categories: Rare diseases, Genetic diseases, Muscle diseases, Skin diseases, Endocrine 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 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 Glucose / Energy Metabolism and Cytoskeletal Signaling. 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 : 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 69)
# Related Disease Score Top Affiliating Genes
1 berardinelli-seip congenital lipodystrophy 30.7 AGPAT2 BSCL2 CAV1 LEP
2 lipodystrophy, familial partial, type 2 28.7 INS LEP LMNA
3 acquired generalized lipodystrophy 12.5
4 lipodystrophy, congenital generalized, type 2 12.1
5 lipodystrophy, congenital generalized, type 1 12.1
6 lipodystrophy, congenital generalized, type 4 12.1
7 lipodystrophy, congenital generalized, type 3 12.0
8 krabbe disease 11.2
9 spastic paraplegia 17, autosomal dominant 10.5 AGPAT2 BSCL2
10 pigmentation disease 10.3 AGPAT2 INS
11 adiposis dolorosa 10.3 AGPAT2 ZMPSTE24
12 autosomal dominant limb-girdle muscular dystrophy 10.2 CAV1 LMNA
13 diabetes mellitus, noninsulin-dependent 10.1
14 endotheliitis 10.1
15 mandibuloacral dysplasia with type a lipodystrophy 10.0 LMNA ZMPSTE24
16 acroosteolysis 10.0 LMNA ZMPSTE24
17 restrictive dermopathy, lethal 10.0 LMNA ZMPSTE24
18 reynolds syndrome 10.0 LMNA ZMPSTE24
19 diabetes mellitus 10.0
20 hallermann-streiff syndrome 9.9 LMNA ZMPSTE24
21 depression 9.9
22 hutchinson-gilford progeria syndrome 9.8 LMNA ZMPSTE24
23 partial lipodystrophy 9.8 BSCL2 CAV1 LMNA
24 abdominal obesity-metabolic syndrome quantitative trait locus 2 9.8 INS LEP
25 nonalcoholic steatohepatitis 9.8 INS LEP
26 abdominal obesity-metabolic syndrome 1 9.8 INS LEP
27 cardiac arrhythmia 9.8
28 multiple sclerosis 9.8
29 pulmonary hypertension, primary, 1 9.8
30 myoclonic epilepsy of lafora 9.8
31 insulin-like growth factor i 9.8
32 myocardial infarction 9.8
33 fatty liver disease, nonalcoholic 1 9.8
34 dilated cardiomyopathy 9.8
35 gas gangrene 9.8
36 hepatitis 9.8
37 epilepsy 9.8
38 cervicitis 9.8
39 long qt syndrome 9.8
40 myopathy 9.8
41 progressive myoclonus epilepsy 9.8
42 amyloidosis 9.8
43 fatty liver disease 9.8
44 muscular dystrophy 9.8
45 type i 9.8
46 progressive myoclonus epilepsy, lafora type 9.8
47 myoclonus epilepsy 9.8
48 angiomatosis 9.8
49 myoclonus 9.8
50 fetal macrosomia 9.7 INS LEP

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 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 AGPAT2 BSCL2 CAV1 CAVIN1 INS 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 AGPAT2 BSCL2 CAV1 INS LEP LMNA
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 LMNA ZMPSTE24 AGPAT2 BSCL2 CAV1 INS
11 integument MP:0010771 9.98 AGPAT2 BSCL2 CAV1 INS LEP LMNA
12 mortality/aging MP:0010768 9.92 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
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 CAV1 INS LEP LMNA BSCL2
18 skeleton MP:0005390 9.1 LEP LMNA ZMPSTE24 AGPAT2 CAV1 INS

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 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With With Familial Partial Lipodystrophy (FPL) Recruiting NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
7 Expanded Access Metreleptin Study Active, not recruiting NCT02404896 Phase 2 Metreleptin
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 106)
# 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
Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area. ( 29264552 )
2017
5
Normal bone density and trabecular bone score, but high serum sclerostin in congenital generalized lipodystrophy. ( 28390904 )
2017
6
Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy. ( 28916377 )
2017
7
Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. ( 26985241 )
2016
8
Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy. ( 27717241 )
2016
9
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study from Turkey. ( 27144933 )
2016
10
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4. ( 27167729 )
2016
11
Cardiac Manifestations of Congenital Generalized Lipodystrophy. ( 27766009 )
2016
12
Successful cardiac transplantation in a patient with congenital generalized lipodystrophy. ( 26821845 )
2016
13
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy. ( 27189019 )
2016
14
Maladaptative autophagy impairs adipose function in Congenital Generalized Lipodystrophy due to cavin-1 deficiency. ( 27144934 )
2016
15
Clinical and mutational features of three Chinese children with congenital generalized lipodystrophy. ( 27612026 )
2016
16
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409 )
2016
17
Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family. ( 25721873 )
2015
18
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. ( 26072926 )
2015
19
Bone mineral content in patients with congenital generalized lipodystrophy is unaffected by metreleptin replacement therapy. ( 25070319 )
2014
20
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
21
Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome. ( 24980513 )
2014
22
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family. ( 23659685 )
2013
23
A mutation in the c-fos gene associated with congenital generalized lipodystrophy. ( 23919306 )
2013
24
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood. ( 23489663 )
2013
25
Serous transformation of marrow of distal femoral epiphysis in a patient with congenital general lipodystrophy and spondylarthritis. ( 23764404 )
2013
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
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. ( 22902344 )
2012
29
Pregnancy in a woman with congenital generalized lipodystrophy: leptin's vital role in reproduction. ( 22270436 )
2012
30
Serum retinol binding protein 4 is not decreased in congenital generalized lipodystrophy: a case series. ( 21779631 )
2011
31
Pathology of congenital generalized lipodystrophy in Agpat2-/- mice. ( 21051554 )
2011
32
Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case. ( 21508592 )
2011
33
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. ( 20684003 )
2010
34
A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene. ( 21126715 )
2010
35
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. ( 20638880 )
2010
36
Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy. ( 20854387 )
2010
37
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
38
Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. ( 19187773 )
2009
39
[Congenital generalized lipodystrophy: a case report with neurological involvement]. ( 19026526 )
2009
40
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. ( 19226263 )
2009
41
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations. ( 19438831 )
2009
42
Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). ( 19376819 )
2009
43
Lafora disease and congenital generalized lipodystrophy: a case report. ( 19951852 )
2009
44
Dilated cardiomyopathy and myocardial infarction secondary to congenital generalized lipodystrophy. ( 18612489 )
2008
45
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. ( 18698612 )
2008
46
Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene. ( 18690553 )
2008
47
Energy balance in congenital generalized lipodystrophy type I. ( 18640396 )
2008
48
Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. ( 18057387 )
2007
49
Computed tomography findings of congenital generalized lipodystrophy: multiple nodular fatty liver and diffuse sclerosis of bones. ( 18026908 )
2007
50
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

Variations for Congenital Generalized Lipodystrophy

ClinVar genetic disease variations for Congenital Generalized Lipodystrophy:

6
(show top 50) (show all 142)
# Gene Variation Type Significance SNP ID Assembly Location
1 BSCL2 NM_001130702.2(BSCL2): c.833C> T (p.Pro278Leu) single nucleotide variant Likely benign rs17850877 GRCh38 Chromosome 11, 62690679: 62690679
2 BSCL2 NM_001130702.2(BSCL2): c.833C> T (p.Pro278Leu) single nucleotide variant Likely benign rs17850877 GRCh37 Chromosome 11, 62458151: 62458151
3 BSCL2 NM_032667.6(BSCL2): c.908C> T (p.Pro303Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144245125 GRCh37 Chromosome 11, 62458312: 62458312
4 BSCL2 NM_032667.6(BSCL2): c.908C> T (p.Pro303Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144245125 GRCh38 Chromosome 11, 62690840: 62690840
5 BSCL2 NM_032667.6(BSCL2): c.396C> T (p.Cys132=) single nucleotide variant Conflicting interpretations of pathogenicity rs369806785 GRCh38 Chromosome 11, 62694610: 62694610
6 BSCL2 NM_032667.6(BSCL2): c.396C> T (p.Cys132=) single nucleotide variant Conflicting interpretations of pathogenicity rs369806785 GRCh37 Chromosome 11, 62462082: 62462082
7 BSCL2 NM_032667.6(BSCL2): c.553G> A (p.Ala185Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs10776 GRCh38 Chromosome 11, 62692683: 62692683
8 BSCL2 NM_032667.6(BSCL2): c.553G> A (p.Ala185Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs10776 GRCh37 Chromosome 11, 62460155: 62460155
9 BSCL2 NM_032667.6(BSCL2): c.256G> A (p.Val86Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149412531 GRCh38 Chromosome 11, 62702506: 62702506
10 BSCL2 NM_032667.6(BSCL2): c.256G> A (p.Val86Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149412531 GRCh37 Chromosome 11, 62469978: 62469978
11 AGPAT2 NM_006412.3(AGPAT2): c.345C> T (p.Cys115=) single nucleotide variant Likely benign rs73668354 GRCh38 Chromosome 9, 136677108: 136677108
12 AGPAT2 NM_006412.3(AGPAT2): c.345C> T (p.Cys115=) single nucleotide variant Likely benign rs73668354 GRCh37 Chromosome 9, 139571560: 139571560
13 AGPAT2 NM_006412.3(AGPAT2): c.49_51dupCTG (p.Leu17_Val18insLeu) duplication Likely benign rs768646064 GRCh37 Chromosome 9, 139581759: 139581761
14 AGPAT2 NM_006412.3(AGPAT2): c.49_51dupCTG (p.Leu17_Val18insLeu) duplication Likely benign rs768646064 GRCh38 Chromosome 9, 136687307: 136687309
15 BSCL2 NM_001122955.3(BSCL2): c.765+15C> T single nucleotide variant Benign rs79586077 GRCh38 Chromosome 11, 62692648: 62692648
16 BSCL2 NM_001122955.3(BSCL2): c.765+15C> T single nucleotide variant Benign rs79586077 GRCh37 Chromosome 11, 62460120: 62460120
17 BSCL2 NM_001122955.3(BSCL2): c.486+11G> T single nucleotide variant Benign rs72929434 GRCh38 Chromosome 11, 62702457: 62702457
18 BSCL2 NM_001122955.3(BSCL2): c.486+11G> T single nucleotide variant Benign rs72929434 GRCh37 Chromosome 11, 62469929: 62469929
19 AGPAT2 NM_006412.3(AGPAT2): c.*535C> T single nucleotide variant Likely benign rs138670030 GRCh37 Chromosome 9, 139567669: 139567669
20 AGPAT2 NM_006412.3(AGPAT2): c.*535C> T single nucleotide variant Likely benign rs138670030 GRCh38 Chromosome 9, 136673217: 136673217
21 AGPAT2 NM_006412.3(AGPAT2): c.*442C> G single nucleotide variant Benign rs6951 GRCh37 Chromosome 9, 139567762: 139567762
22 AGPAT2 NM_006412.3(AGPAT2): c.*442C> G single nucleotide variant Benign rs6951 GRCh38 Chromosome 9, 136673310: 136673310
23 AGPAT2 NM_006412.3(AGPAT2): c.*418G> A single nucleotide variant Uncertain significance rs886063718 GRCh37 Chromosome 9, 139567786: 139567786
24 AGPAT2 NM_006412.3(AGPAT2): c.*418G> A single nucleotide variant Uncertain significance rs886063718 GRCh38 Chromosome 9, 136673334: 136673334
25 AGPAT2 NM_006412.3(AGPAT2): c.*239G> A single nucleotide variant Likely benign rs56310643 GRCh37 Chromosome 9, 139567965: 139567965
26 AGPAT2 NM_006412.3(AGPAT2): c.*239G> A single nucleotide variant Likely benign rs56310643 GRCh38 Chromosome 9, 136673513: 136673513
27 AGPAT2 NM_006412.3(AGPAT2): c.*217G> A single nucleotide variant Uncertain significance rs886063720 GRCh37 Chromosome 9, 139567987: 139567987
28 AGPAT2 NM_006412.3(AGPAT2): c.*217G> A single nucleotide variant Uncertain significance rs886063720 GRCh38 Chromosome 9, 136673535: 136673535
29 AGPAT2 NM_006412.3(AGPAT2): c.*212_*217dupGGCTCG duplication Likely benign rs145169122 GRCh37 Chromosome 9, 139567987: 139567992
30 AGPAT2 NM_006412.3(AGPAT2): c.*212_*217dupGGCTCG duplication Likely benign rs145169122 GRCh38 Chromosome 9, 136673535: 136673540
31 AGPAT2 NM_006412.3(AGPAT2): c.820G> A (p.Val274Met) single nucleotide variant Uncertain significance rs368902934 GRCh37 Chromosome 9, 139568221: 139568221
32 AGPAT2 NM_006412.3(AGPAT2): c.820G> A (p.Val274Met) single nucleotide variant Uncertain significance rs368902934 GRCh38 Chromosome 9, 136673769: 136673769
33 AGPAT2 NM_006412.3(AGPAT2): c.662-5C> G single nucleotide variant Uncertain significance rs199964729 GRCh37 Chromosome 9, 139568384: 139568384
34 AGPAT2 NM_006412.3(AGPAT2): c.662-5C> G single nucleotide variant Uncertain significance rs199964729 GRCh38 Chromosome 9, 136673932: 136673932
35 AGPAT2 NM_006412.3(AGPAT2): c.189C> T (p.Ile63=) single nucleotide variant Likely benign rs150180733 GRCh37 Chromosome 9, 139572002: 139572002
36 AGPAT2 NM_006412.3(AGPAT2): c.189C> T (p.Ile63=) single nucleotide variant Likely benign rs150180733 GRCh38 Chromosome 9, 136677550: 136677550
37 AGPAT2 NM_006412.3(AGPAT2): c.-61G> C single nucleotide variant Uncertain significance rs886063725 GRCh38 Chromosome 9, 136687418: 136687418
38 AGPAT2 NM_006412.3(AGPAT2): c.-61G> C single nucleotide variant Uncertain significance rs886063725 GRCh37 Chromosome 9, 139581870: 139581870
39 AGPAT2 NM_006412.3(AGPAT2): c.-62G> A single nucleotide variant Uncertain significance rs566958496 GRCh37 Chromosome 9, 139581871: 139581871
40 AGPAT2 NM_006412.3(AGPAT2): c.-62G> A single nucleotide variant Uncertain significance rs566958496 GRCh38 Chromosome 9, 136687419: 136687419
41 AGPAT2 NM_006412.3(AGPAT2): c.-67G> C single nucleotide variant Likely benign rs146341067 GRCh38 Chromosome 9, 136687424: 136687424
42 AGPAT2 NM_006412.3(AGPAT2): c.-67G> C single nucleotide variant Likely benign rs146341067 GRCh37 Chromosome 9, 139581876: 139581876
43 AGPAT2 NM_006412.3(AGPAT2): c.*201G> C single nucleotide variant Uncertain significance rs567964604 GRCh37 Chromosome 9, 139568003: 139568003
44 AGPAT2 NM_006412.3(AGPAT2): c.*201G> C single nucleotide variant Uncertain significance rs567964604 GRCh38 Chromosome 9, 136673551: 136673551
45 AGPAT2 NM_006412.3(AGPAT2): c.*157C> T single nucleotide variant Benign rs4880119 GRCh37 Chromosome 9, 139568047: 139568047
46 AGPAT2 NM_006412.3(AGPAT2): c.*157C> T single nucleotide variant Benign rs4880119 GRCh38 Chromosome 9, 136673595: 136673595
47 AGPAT2 NM_006412.3(AGPAT2): c.*45C> A single nucleotide variant Uncertain significance rs769602973 GRCh37 Chromosome 9, 139568159: 139568159
48 AGPAT2 NM_006412.3(AGPAT2): c.*45C> A single nucleotide variant Uncertain significance rs769602973 GRCh38 Chromosome 9, 136673707: 136673707
49 AGPAT2 NM_006412.3(AGPAT2): c.604G> A (p.Val202Met) single nucleotide variant Uncertain significance rs372408400 GRCh37 Chromosome 9, 139569244: 139569244
50 AGPAT2 NM_006412.3(AGPAT2): c.604G> A (p.Val202Met) single nucleotide variant Uncertain significance rs372408400 GRCh38 Chromosome 9, 136674792: 136674792

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 AGPAT2 BSCL2 INS
2 11.92 CAV1 CAVIN1 LMNA
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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.65 CAV1 INS LMNA
2 response to insulin GO:0032868 9.51 INS LEP
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.49 INS LEP
4 glucose metabolic process GO:0006006 9.46 INS LEP
5 response to nutrient levels GO:0031667 9.43 INS LEP
6 positive regulation of cytokine production GO:0001819 9.4 AGPAT2 LEP
7 lipid storage GO:0019915 9.37 BSCL2 CAV1
8 nuclear envelope organization GO:0006998 9.32 LMNA ZMPSTE24
9 regulation of nitric-oxide synthase activity GO:0050999 9.26 CAV1 LEP
10 negative regulation of lipid catabolic process GO:0050995 9.16 BSCL2 INS
11 positive regulation of insulin receptor signaling pathway GO:0046628 8.96 INS LEP
12 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
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46 MGI
49 NCI
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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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