MCID: CNG012
MIFTS: 42

Congenital Generalized Lipodystrophy malady

Summaries for Congenital Generalized Lipodystrophy

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47OMIM, 33MalaCards
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MalaCards: Congenital Generalized Lipodystrophy, also known as congenital generalized lipodystrophy type 2, is related to berardinelli-seip congenital lipodystrophy and congenital generalized lipodystrophy type 2. 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 liver, skeletal muscle and adipocyte, and related mouse phenotypes are integument and adipose tissue.

Description from OMIM:47 269700,612526,608594,613327

Aliases & Classifications for Congenital Generalized Lipodystrophy

Sources:
8Disease Ontology, 61UMLS, 47OMIM
See all sources

Aliases & Descriptions:

congenital generalized lipodystrophy 8
congenital generalized lipodystrophy type 2 61
beradinelli-seip syndrome 8


External Ids:

Disease Ontology8 DOID:0050585

Related Diseases for Congenital Generalized Lipodystrophy

Sources:
17GeneCards, 18GeneDecks
See all sources

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
1berardinelli-seip congenital lipodystrophy30.9AGPAT2, BSCL2
2congenital generalized lipodystrophy type 230.7LMNA, LEP, INS, AGPAT2, BSCL2, LSL
3insulin resistance30.5LSL, BSCL2, AGPAT2, INS, LEP, LMNA
4acquired generalized lipodystrophy30.1LEP
5congenital generalized lipodystrophy type 110.6
6congenital generalized lipodystrophy type 410.5
7congenital generalized lipodystrophy type 310.5
8lipoatrophic diabetes10.3
9n syndrome10.3
10lip disease10.3
11lafora disease10.1
12amyloidosis10.1
13short syndrome10.1
14myopathy congenital10.1
15mental retardation10.1
16angiomatosis10.1
17short stature10.1
18mandibuloacral dysplasia10.0LMNA
19hyperuricemia10.0INS
20pancreatitis10.0INS
21rabson-mendenhall syndrome10.0INS
22multiple sclerosis10.0LSL
23dementia10.0NHLRC1
24cushing's syndrome10.0INS
25hepatitis10.0CAV1
26distal hereditary motor neuropathy10.0AGPAT2, GZMH
27ischemia10.0CAV1
28hypoglycemia10.0INS, LSL
29proteinuria10.0INS, LSL
30neuropathy10.0LMNA, INS
31colon cancer10.0LSL, CAV1
32myopathy10.0INS, LMNA
33ovarian cancer10.0AGPAT2, CAV1
34familial combined hyperlipidemia10.0LSL, INS
35uremia10.0LEP, LSL
36blindness10.0INS
37bulimia nervosa10.0LSL, LEP
38diabetic ketoacidosis10.0INS, LSL
39hypercholesterolemia10.0SREBF1, SREBF2, INS
40galactosemia10.0INS, LEP
41morbid obesity10.0INS, LEP
42hypothyroidism10.0LSL, LEP
43amenorrhea10.0LEP, INS
44fetal macrosomia10.0LEP, INS
45precocious puberty10.0LEP, LSL
46eating disorder10.0LEP, LSL
47prostate cancer10.0SREBF1, SREBF2, CAV1
48anovulation10.0LEP, INS
49hepatocellular carcinoma10.0CAV1, INS
50polycystic ovary syndrome10.0INS, LEP

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



Diseases related to congenital generalized lipodystrophy

Clinical Features for Congenital Generalized Lipodystrophy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

269700,612526,608594,613327

Drugs & Therapeutics for Congenital Generalized Lipodystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Anatomical Context for Congenital Generalized Lipodystrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Congenital Generalized Lipodystrophy:

33
Liver, Skeletal muscle, Adipocyte

Animal Models for Congenital Generalized Lipodystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Congenital Generalized Lipodystrophy

Sources:
51PubMed
See all sources

Articles related to Congenital Generalized Lipodystrophy:

(show top 50)    (show all 89)
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
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. (22902344)
2012
4
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. (23430896)
2012
5
Pathology of congenital generalized lipodystrophy in Agpat2-/- mice. (21051554)
2011
6
Serum retinol binding protein 4 is not decreased in congenital generalized lipodystrophy: a case series. (21779631)
2011
7
Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy. (20854387)
2010
8
A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene. (21126715)
2010
9
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. (20638880)
2010
10
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. (20684003)
2010
11
Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. (20616664)
2010
12
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations. (19438831)
2009
13
Congenital generalized lipodystrophy: a case report with neurological involvement]. (19026526)
2009
14
Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. (19187773)
2009
15
Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). (19376819)
2009
16
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. (19226263)
2009
17
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. (18698612)
2008
18
Dilated cardiomyopathy and myocardial infarction secondary to congenital generalized lipodystrophy. (18612489)
2008
19
Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene. (18690553)
2008
20
Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings. (15617555)
2005
21
Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. (15629135)
2005
22
Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. (15126564)
2004
23
Genetic basis of congenital generalized lipodystrophy. (14557833)
2004
24
Successful renal transplantation in a patient with congenital generalized lipodystrophy: a case report. (14962001)
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

Expression for genes affiliated with Congenital Generalized Lipodystrophy

Sources:
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

Sources:
38NCBI BioSystems Database, 54Reactome, 52QIAGEN
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Compounds for genes affiliated with Congenital Generalized Lipodystrophy

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Congenital Generalized Lipodystrophy according to GeneCards/GeneDecks:

(show all 49)
idCompoundScoreTop Affiliating Genes
1n-acetylleucylleucylnorleucinal4510.1SREBF1, SREBF2
2exenatide45 1111.0LEP, INS
3fatty acid459.9CAV1, LSL
4pramlintide45 1110.9INS, LEP
525-hydroxycholesterol45 29 2411.8SREBF1, SREBF2
6telmisartan45 29 1111.8LEP, INS
7mevalonate459.8CAV1, SREBF2, SREBF1
8cortisone45 2410.7LEP, INS
9lovastatin45 50 60 29 1113.7LMNA, SREBF2, SREBF1
10oleic acid45 29 11 2412.7CAV1, SREBF2, SREBF1
11squalene45 2410.7SREBF2, SREBF1
12fenofibrate45 50 1111.6SREBF2, LEP, INS
13tibolone459.6LEP, LSL
14sterol459.6SREBF1, SREBF2, CAV1
15ceramide459.6CAV1, SREBF2, SREBF1
16acetyl-coa45 2410.5SREBF1, SREBF2, AGPAT2
17sibutramine45 1110.5LEP, INS, LSL
18beta-hydroxybutyrate459.5LSL, INS, LEP
19acipimox45 2910.5LEP, INS, LSL
20intralipid459.5LSL, INS, LEP
21nash459.5LSL, INS, LEP
22orlistat45 60 1111.5LEP, INS, LSL
23dehydroepiandrosterone sulfate459.5LSL, INS, LEP
24pravastatin45 50 29 11 2413.5LSL, LEP, SREBF2
25olanzapine50 45 29 11 2413.5LSL, INS, LEP
26metformin45 50 1111.5LEP, INS, LSL
27nelfinavir45 50 1111.4LMNA, SREBF1
28c-peptide459.4LSL, INS, LEP
29dhea459.4LEP, INS, LSL
30androstenedione45 2410.4LSL, INS, LEP
31uric acid45 2410.4LSL, INS, LEP
32troglitazone45 29 60 1112.4LSL, INS, LEP
33carbohydrates459.3LSL, INS, LEP
34thyroxine45 2410.3LEP, INS, LSL
35glycerol45 11 2411.2LEP, INS, LSL
36ly294002459.2CAV1, INS, LEP, SREBF1
37acth459.1LSL, INS, LEP
38creatinine458.9LSL, INS, LEP, LMNA
39wortmannin458.9CAV1, INS, LEP, SREBF2, SREBF1
40alanine458.7SREBF2, LMNA, INS, LSL, CAV1
41testosterone45 60 11 2411.7CAV1, LSL, INS, LEP, SREBF1
42rosiglitazone45 50 29 11 2412.6CAV1, LSL, INS, LEP, LMNA
43phosphatidylinositol458.6CAV1, LSL, INS, LEP, SREBF1
44triacylglycerol458.6SREBF1, SREBF2, LEP, INS, AGPAT2, LSL
45cholesterol45 29 11 2411.0CAV1, LSL, INS, LEP, LMNA, SREBF2
46arginine458.0CAV1, LSL, INS, LEP, LMNA, SREBF2
47glucose458.0CAV1, LSL, INS, LEP, LMNA, SREBF2
48serine457.9CAV1, GZMH, INS, LEP, LMNA, SREBF1
49lipid457.7CAV1, LSL, AGPAT2, INS, LEP, LMNA

GO Terms for genes affiliated with Congenital Generalized Lipodystrophy

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet