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
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood. (23489663)
2013
2
Serous transformation of marrow of distal femoral epiphysis in a patient with congenital general lipodystrophy and spondylarthritis. (23764404)
2013
3
Pregnancy in a woman with congenital generalized lipodystrophy: leptin's vital role in reproduction. (22270436)
2012
4
A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. (23430896)
2012
5
Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case. (21508592)
2011
6
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
7
Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. (20616664)
2010
8
Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. (19187773)
2009
9
Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). (19376819)
2009
10
Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. (19226263)
2009
11
Lafora disease and congenital generalized lipodystrophy: a case report. (19951852)
2009
12
Energy balance in congenital generalized lipodystrophy type I. (18640396)
2008
13
Dilated cardiomyopathy and myocardial infarction secondary to congenital generalized lipodystrophy. (18612489)
2008
14
Computed tomography findings of congenital generalized lipodystrophy: multiple nodular fatty liver and diffuse sclerosis of bones. (18026908)
2007
15
Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. (18057387)
2007
16
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
17
Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings. (15617555)
2005
18
Case 88: Congenital generalized lipodystrophy. (16244256)
2005
19
Generalized congenital lipodystrophy: correlation with leptin and other biochemical parameters]. (17768808)
2005
20
Congenital generalized lipodystrophy in a 4 year old Chinese girl. (16269843)
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
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. (14602785)
2003
24
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. (14557463)
2003
25
Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways. (12826327)
2003
26
Triglyceride-induced diabetes mellitus in congenital generalized lipodystrophy. (12008692)
2002
27
Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. (11078466)
2000
28
A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. (10487716)
1999
29
Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. (9784493)
1998
30
Studies of insulin resistance in congenital generalized lipodystrophy. (8783770)
1996
31
Detection of an aberrant fragment in growth hormone gene cluster in a girl with congenital generalized lipodystrophy. (8820990)
1996
32
Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings. (7502362)
1995
33
Clostridial gas gangrene associated with congenital generalized lipodystrophy: report of a case. (7780235)
1994
34
Congenital generalized lipodystrophy associated with multiple sclerosis. (1592577)
1992
35
The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy. (1523434)
1992
36
Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy. (1639935)
1992
37
Insulin resistance in a boy with congenital generalized lipodystrophy. (3060827)
1988
38
Congenital generalized lipodystrophy (a case report). (511329)
1979
39
Congenital generalized lipodystrophy with insulin-resistant diabetes. (203464)
1978
40
Decreased binding of insulin to its receptor in patients with congenital generalized lipodystrophy. (831106)
1977
41
Congenital generalized lipodystrophy and experimental lipoatrophic diabetes in rabbits treated successfully with fenfluramine. (577333)
1977
42
Studies in congenital generalized lipodystrophy. IV. Effect of muscular exercise on carbohydrate and fat metabolism including plasma levels of IRI and HGH. (1036653)
1976
43
The myopahtology of congenital generalized lipodystrophy light and electron microscopic observations. (1011408)
1976
44
Congenital generalized lipodystrophy. (165654)
1975
45
Lipoatrophy produced in mice and rabbits by a fraction prepared from the urine from patients with congenital generalized lipodystrophy. (1242274)
1975
46
Studies in congenital generalized lipodystrophy. V. Circulating insulin and pro-insulin. (4800354)
1973
47
Studies in congenital generalized lipodystrophy. II. The effect of patients' plasma on glycogen synthesis in rat diaphragm and adipose tissue in vivo. (4739357)
1973
48
Congenital generalized lipodystrophy-case report and observations on 11 patients in Japan. (4668770)
1972
49
Congenital generalized lipodystrophy with abnormal growth hormone homeostasis. (4256264)
1971
50
Congenital generalized lipodystrophy. (4318181)
1970

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