MCID: CNG012
MIFTS: 44

Congenital Generalized Lipodystrophy malady

Summaries for Congenital Generalized Lipodystrophy

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46OMIM, 32MalaCards
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MalaCards: Congenital Generalized Lipodystrophy, also known as congenital generalized lipodystrophy type 2, is related to lipodystrophy and berardinelli-seip congenital lipodystrophy. An important gene associated with Congenital Generalized Lipodystrophy is AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2), and among its related pathways are SREBF and miR33 in cholesterol and lipid homeostasis and cholesterol biosynthesis III (via desmosterol). The compounds n-acetylleucylleucylnorleucinal and exenatide have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and adipocyte, and related mouse phenotypes are integument and adipose tissue.

Description from OMIM:46 269700,612526,608594,613327

Aliases & Classifications for Congenital Generalized Lipodystrophy

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8Disease Ontology, 60UMLS, 46OMIM
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Aliases & Descriptions:

congenital generalized lipodystrophy 8
congenital generalized lipodystrophy type 2 60
beradinelli-seip syndrome 8


External Ids:

Disease Ontology8 DOID:0050585

Related Diseases for Congenital Generalized Lipodystrophy

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17GeneCards, 18GeneDecks
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Diseases in the Congenital Generalized Lipodystrophy Type 2 family:

congenital generalized lipodystrophy Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 4 Congenital Generalized Lipodystrophy Type 3
Acquired Generalized Lipodystrophy

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

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy31.5PTRF, SREBF1, LMNA, LEP, INS, AGPAT2
2berardinelli-seip congenital lipodystrophy30.8AGPAT2, BSCL2
3congenital generalized lipodystrophy type 230.7LMNA, LEP, INS, AGPAT2, BSCL2, LSL
4diabetes mellitus30.4LSL, BSCL2, INS, LEP, LMNA, SREBF1
5multiple sclerosis30.3LSL
6hepatitis30.1CAV1
7myopathy30.1INS, LMNA
8congenital generalized lipodystrophy type 110.6
9congenital generalized lipodystrophy type 410.5
10congenital generalized lipodystrophy type 310.4
11lipoatrophic diabetes10.2
12gas gangrene10.1
13lafora disease10.1
14amyloidosis10.1
15cervicitis10.1
16congenital muscular dystrophy10.1
17dilated cardiomyopathy10.1
18long qt syndrome10.1
19muscular dystrophy10.1
20myocardial infarction10.1
21mandibuloacral dysplasia10.0LMNA
22hyperuricemia10.0INS
23pancreatitis10.0INS
24rabson-mendenhall syndrome10.0INS
25dementia10.0NHLRC1
26cushing's syndrome10.0INS
27distal hereditary motor neuropathy10.0AGPAT2, GZMH
28ischemia10.0CAV1
29hypoglycemia10.0INS, LSL
30proteinuria10.0INS, LSL
31acquired generalized lipodystrophy10.0LEP
32neuropathy10.0LMNA, INS
33colon cancer10.0LSL, CAV1
34ovarian cancer10.0AGPAT2, CAV1
35familial combined hyperlipidemia10.0LSL, INS
36uremia10.0LEP, LSL
37blindness10.0INS
38bulimia nervosa10.0LSL, LEP
39diabetic ketoacidosis10.0INS, LSL
40hypercholesterolemia10.0SREBF1, SREBF2, INS
41galactosemia10.0INS, LEP
42morbid obesity10.0INS, LEP
43hypothyroidism10.0LSL, LEP
44amenorrhea10.0LEP, INS
45fetal macrosomia10.0LEP, INS
46precocious puberty10.0LEP, LSL
47eating disorder10.0LEP, LSL
48prostate cancer10.0SREBF1, SREBF2, CAV1
49anovulation10.0LEP, INS
50hepatocellular carcinoma10.0CAV1, INS

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



Diseases related to congenital generalized lipodystrophy

Clinical Features for Congenital Generalized Lipodystrophy

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46OMIM
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Clinical features from OMIM:

269700,612526,608594,613327

Drugs & Therapeutics for Congenital Generalized Lipodystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Congenital Generalized Lipodystrophy

Drug clinical trials:

Search ClinicalTrials for Congenital Generalized Lipodystrophy

Search NIH Clinical Center for Congenital Generalized Lipodystrophy

Search CenterWatch for Congenital Generalized Lipodystrophy

Genetic Tests for Congenital Generalized Lipodystrophy

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Anatomical Context for Congenital Generalized Lipodystrophy

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32MalaCards
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MalaCards organs/tissues related to Congenital Generalized Lipodystrophy:

32
Bone, Skeletal muscle, Adipocyte, Liver

Animal Models for Congenital Generalized Lipodystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Congenital Generalized Lipodystrophy:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.9CAV1, BSCL2, AGPAT2, INS, SREBF2
2MP:00053758.4CAV1, BSCL2, AGPAT2, INS, LEP, LMNA
3MP:00053678.3CAV1, BSCL2, AGPAT2, INS, LEP, LMNA
4MP:00053818.2CAV1, BSCL2, AGPAT2, INS, LEP, LMNA
5MP:00053698.1NHLRC1, LMNA, LEP, INS, CAV1
6MP:00053787.6CAV1, BSCL2, AGPAT2, INS, LEP, LMNA
7MP:00107687.5CAV1, BSCL2, AGPAT2, INS, LEP, LMNA
8MP:00053847.4CAV1, BSCL2, INS, LEP, LMNA, PTRF
9MP:00053867.4CAV1, BSCL2, AGPAT2, INS, LEP, LMNA
10MP:00053707.1NHLRC1, CAV1, BSCL2, AGPAT2, INS, LEP
11MP:00053766.8CAV1, BSCL2, AGPAT2, INS, LEP, LMNA

Publications for Congenital Generalized Lipodystrophy

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50PubMed
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Articles related to Congenital Generalized Lipodystrophy:

(show top 50)    (show all 90)
idTitleAuthorsYear
1
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family. (23659685)
2013
2
A mutation in the c-fos gene associated with congenital generalized lipodystrophy. (23919306)
2013
3
Serous transformation of marrow of distal femoral epiphysis in a patient with congenital general lipodystrophy and spondylarthritis. (23764404)
2013
4
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. (22902344)
2012
5
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. (23430896)
2012
6
Pathology of congenital generalized lipodystrophy in Agpat2-/- mice. (21051554)
2011
7
Serum retinol binding protein 4 is not decreased in congenital generalized lipodystrophy: a case series. (21779631)
2011
8
Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy. (20854387)
2010
9
A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene. (21126715)
2010
10
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. (20638880)
2010
11
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. (20684003)
2010
12
Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. (20616664)
2010
13
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations. (19438831)
2009
14
Congenital generalized lipodystrophy: a case report with neurological involvement]. (19026526)
2009
15
Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). (19376819)
2009
16
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. (18698612)
2008
17
Dilated cardiomyopathy and myocardial infarction secondary to congenital generalized lipodystrophy. (18612489)
2008
18
Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene. (18690553)
2008
19
Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings. (15617555)
2005
20
Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. (15629135)
2005
21
Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. (15126564)
2004
22
Genetic basis of congenital generalized lipodystrophy. (14557833)
2004
23
Successful renal transplantation in a patient with congenital generalized lipodystrophy: a case report. (14962001)
2004
24
Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy. (15240593)
2004
25
A case of congenital generalized lipodystrophy with lipoatrophic diabetes developing anti-insulin antibodies. (12207821)
2002
26
Induction of adipocyte differentiation by a thiazolidinedione in cultured, subepidermal, fibroblast-like cells of an infant with congenital generalized lipodystrophy. (11994391)
2002
27
Congenital generalized lipodystrophy in a 4-month-old infant. (11695279)
2001
28
A case of congenital generalized lipodystrophy: metabolic effects of four dietary regimens. Lack of association of CGL with polymorphism in the lamin A/C Gene. (11298098)
2001
29
Skeletal muscle morphology and exercise response in congenital generalized lipodystrophy. (11023150)
2000
30
Uncommon allele in apo AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy. (9640797)
1997
31
Severe islet amyloidosis in congenital generalized lipodystrophy. (8720529)
1996
32
Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping. Berardinelli-Seip Study Group. (8783773)
1996
33
Studies of insulin resistance in congenital generalized lipodystrophy. (8783770)
1996
34
Generalized lipodystrophy, congenital and acquired (lipoatrophy). (8783769)
1996
35
Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings. (7502362)
1995
36
Postmortem findings in congenital generalized lipodystrophy. (7559900)
1995
37
The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy. (1523434)
1992
38
Congenital generalized lipodystrophy. (1630004)
1992
39
Computed tomography and ultrasonography of the abdomen in congenital generalized lipodystrophy. (7063685)
1982
40
Congenital generalized lipodystrophy with insulin-resistant diabetes. (203464)
1978
41
Fat cell size and lipid content of subcutaneous tissue in congenital generalized lipodystrophy. (580534)
1978
42
Congenital generalized lipodystrophy. Report on one case, with special reference to postmortem findings. (1251733)
1976
43
The myopahtology of congenital generalized lipodystrophy light and electron microscopic observations. (1011408)
1976
44
Studies in congenital generalized lipodystrophy. VI. Suppressible and non-suppressible insulin-like activities of plasma. (1174276)
1975
45
Studies in congenital generalized lipodystrophy. 3. Growth hormone levels. (4740840)
1973
46
Studies in congenital generalized lipodystrophy. V. Circulating insulin and pro-insulin. (4800354)
1973
47
Studies in congenital generalized lipodystrophy (Seip-Berardinelli syndrome). I. Development of diabetes. (4739356)
1973
48
Congenital generalized lipodystrophy. (4318181)
1970
49
Congenital generalized lipodystrophy accompanied by cystic angiomatosis. (5673170)
1968
50
Lipoatrophic diabetes mellitus (generalized lipodystrophy): roentgen findings in two brothers with congenital disease. (4864233)
1967

Genetic Variations for Congenital Generalized Lipodystrophy

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Expression for genes affiliated with Congenital Generalized Lipodystrophy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Generalized Lipodystrophy

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

Pathways for genes affiliated with Congenital Generalized Lipodystrophy

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37NCBI BioSystems Database, 53Reactome, 51QIAGEN
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Compounds for genes affiliated with Congenital Generalized Lipodystrophy

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Congenital Generalized Lipodystrophy according to GeneCards/GeneDecks:

(show all 49)
idCompoundScoreTop Affiliating Genes
1n-acetylleucylleucylnorleucinal4410.1SREBF1, SREBF2
2exenatide44 1111.0LEP, INS
3fatty acid449.9CAV1, LSL
4pramlintide44 1110.9INS, LEP
525-hydroxycholesterol44 28 2411.8SREBF1, SREBF2
6telmisartan44 28 1111.8LEP, INS
7mevalonate449.8CAV1, SREBF2, SREBF1
8cortisone44 2410.7LEP, INS
9lovastatin44 49 59 28 1113.7LMNA, SREBF2, SREBF1
10oleic acid44 28 11 2412.7CAV1, SREBF2, SREBF1
11squalene44 2410.7SREBF2, SREBF1
12fenofibrate44 49 1111.6SREBF2, LEP, INS
13tibolone449.6LEP, LSL
14sterol449.6SREBF1, SREBF2, CAV1
15ceramide449.6CAV1, SREBF2, SREBF1
16acetyl-coa44 2410.5SREBF1, SREBF2, AGPAT2
17sibutramine44 1110.5LEP, INS, LSL
18beta-hydroxybutyrate449.5LSL, INS, LEP
19acipimox44 2810.5LEP, INS, LSL
20intralipid449.5LSL, INS, LEP
21nash449.5LSL, INS, LEP
22orlistat44 59 1111.5LEP, INS, LSL
23dehydroepiandrosterone sulfate449.5LSL, INS, LEP
24pravastatin44 49 28 11 2413.5LSL, LEP, SREBF2
25olanzapine49 44 28 11 2413.5LSL, INS, LEP
26metformin44 49 1111.5LEP, INS, LSL
27nelfinavir44 49 1111.4LMNA, SREBF1
28c-peptide449.4LSL, INS, LEP
29dhea449.4LEP, INS, LSL
30androstenedione44 2410.4LSL, INS, LEP
31uric acid44 2410.4LSL, INS, LEP
32troglitazone44 28 59 1112.4LSL, INS, LEP
33carbohydrates449.3LSL, INS, LEP
34thyroxine44 2410.3LEP, INS, LSL
35glycerol44 11 2411.2LEP, INS, LSL
36ly294002449.2CAV1, INS, LEP, SREBF1
37acth449.1LSL, INS, LEP
38creatinine448.9LSL, INS, LEP, LMNA
39wortmannin448.9CAV1, INS, LEP, SREBF2, SREBF1
40alanine448.7SREBF2, LMNA, INS, LSL, CAV1
41testosterone44 59 11 2411.7CAV1, LSL, INS, LEP, SREBF1
42rosiglitazone44 49 28 11 2412.6CAV1, LSL, INS, LEP, LMNA
43phosphatidylinositol448.6CAV1, LSL, INS, LEP, SREBF1
44triacylglycerol448.6SREBF1, SREBF2, LEP, INS, AGPAT2, LSL
45cholesterol44 28 11 2411.0CAV1, LSL, INS, LEP, LMNA, SREBF2
46arginine448.0CAV1, LSL, INS, LEP, LMNA, SREBF2
47glucose448.0CAV1, LSL, INS, LEP, LMNA, SREBF2
48serine447.9CAV1, GZMH, INS, LEP, LMNA, SREBF1
49lipid447.7CAV1, LSL, AGPAT2, INS, LEP, LMNA

GO Terms for genes affiliated with Congenital Generalized Lipodystrophy

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16Gene Ontology
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Cellular components related to Congenital Generalized Lipodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ER to Golgi transport vesicle membraneGO:0125079.8SREBF1, SREBF2
2endoplasmic reticulumGO:0057837.9NHLRC1, PTRF, SREBF1, SREBF2, AGPAT2, CAV1

Biological processes related to Congenital Generalized Lipodystrophy according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of lipid catabolic processGO:05099510.0INS, BSCL2
2regulation of fatty acid metabolic processGO:0192179.9SREBF1, CAV1
3lipid storageGO:0199159.9BSCL2, CAV1
4positive regulation of insulin receptor signaling pathwayGO:0466289.8INS, LEP
5positive regulation of cytokine productionGO:0018199.8AGPAT2, LEP
6cellular response to starvationGO:0092679.7SREBF1, CAV1
7cellular lipid metabolic processGO:0442559.5SREBF1, SREBF2, AGPAT2
8cholesterol metabolic processGO:0082039.5SREBF1, SREBF2, LEP
9response to progesterone stimulusGO:0325709.4SREBF1, CAV1
10negative regulation of transcription from RNA polymerase II promoterGO:0001228.7CAV1, LEP, SREBF2, SREBF1

Products for genes affiliated with Congenital Generalized Lipodystrophy

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Sources for Congenital Generalized Lipodystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet