MCID: CNG012
MIFTS: 52

Congenital Generalized Lipodystrophy malady

Genetic diseases, Skin diseases, Rare diseases, Endocrine diseases, Fetal diseases, Neuronal diseases, Muscle diseases categories

Summaries for Congenital Generalized Lipodystrophy

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48OMIM, 34MalaCards
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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 Insulin Pathway and PDGFR-alpha signaling pathway. The compounds exenatide and pramlintide have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver, and related mouse phenotypes are pigmentation and respiratory system.

Description from OMIM:48 613327,612526,608594,269700

Aliases & Classifications for Congenital Generalized Lipodystrophy

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9Disease Ontology, 63UMLS, 48OMIM
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Classifications:



Aliases & Descriptions:

congenital generalized lipodystrophy 9
congenital generalized lipodystrophy type 2 63
beradinelli-seip syndrome 9


External Ids:

Disease Ontology9 DOID:0050585

Related Diseases for Congenital Generalized Lipodystrophy

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18GeneCards, 19GeneDecks
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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 79)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy31.3INS, BSCL2, LEP, AGPAT2, LMNA, PTRF
2berardinelli-seip congenital lipodystrophy30.8AGPAT2, BSCL2
3congenital generalized lipodystrophy type 230.6INS, BSCL2, LEP, LEPQTL1, LMNA, AGPAT2
4insulin resistance30.4BSCL2, LEP, INS, LEPQTL1, LMNA, FOS
5diabetes mellitus30.4BSCL2, INS, LEP, LEPQTL1, LMNA
6myopathy30.1LMNA, INS, FOS
7congenital generalized lipodystrophy type 110.6
8congenital generalized lipodystrophy type 410.5
9congenital generalized lipodystrophy type 310.5
10lipoatrophic diabetes10.3
11distal hereditary motor neuropathy10.1AGPAT2
12gas gangrene10.1
13lafora disease10.1
14amyloidosis10.1
15cervicitis10.1
16dilated cardiomyopathy10.1
17hepatitis10.1
18long qt syndrome10.1
19multiple sclerosis10.1
20muscular dystrophy10.1
21myocardial infarction10.1
22mental retardation10.1
23angiomatosis10.1
24short stature10.1
25rabson-mendenhall syndrome10.1INS
26mandibuloacral dysplasia10.1LMNA
27acquired generalized lipodystrophy10.1LEP
28diabetic ketoacidosis10.0LEPQTL1, INS
29familial combined hyperlipidemia10.0LEPQTL1, INS
30fetal macrosomia10.0LEP, INS
31anovulation10.0INS, LEP
32obstructive sleep apnea10.0LEPQTL1, LEP
33severe pre-eclampsia10.0LEP, LEPQTL1
34amenorrhea10.0INS, LEP
35protein-energy malnutrition10.0LEP, LEPQTL1
36bulimia nervosa10.0LEP, LEPQTL1
37morbid obesity10.0LEP, INS
38hypopituitarism10.0INS, LEP
39hypothyroidism10.0LEP, LEPQTL1
40cholera10.0FOS, INS, CAV1
41precocious puberty10.0LEP, LEPQTL1
42polycystic ovary syndrome10.0INS, LEP
43eating disorder10.0LEP, LEPQTL1
44liver cirrhosis10.0FOS, LEPQTL1, CAV1
45narcolepsy10.0LEPQTL1, LEP
46proteinuria10.0FOS, LEPQTL1, INS
47hypertension10.0CAV1, INS, LEP
48fatty liver disease10.0INS, LEP
49anorexia nervosa10.0LEP, LEPQTL1
50growth hormone deficiency10.0INS, LEP, LEPQTL1

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



Diseases related to congenital generalized lipodystrophy

Symptoms for Congenital Generalized Lipodystrophy

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48OMIM
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Clinical features from OMIM:

613327,612526,608594,269700

Drugs & Therapeutics for Congenital Generalized Lipodystrophy

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Congenital Generalized Lipodystrophy:

34
Skin, Bone, Liver, Skeletal muscle, Adipocyte

Animal Models for Congenital Generalized Lipodystrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Congenital Generalized Lipodystrophy:

38 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.4NHLRC1, LEP, LMNA
2MP:00053888.4CAV1, LMNA, PTRF, LEP
3MP:00053718.1AGPAT2, FOS, LMNA, LEP
4MP:00053758.0BSCL2, INS, LEP, LMNA, CAV1, AGPAT2
5MP:00053678.0BSCL2, INS, LEP, LMNA, CAV1, AGPAT2
6MP:00053698.0NHLRC1, INS, LEP, LMNA, CAV1
7MP:00053818.0BSCL2, INS, LEP, LMNA, CAV1, AGPAT2
8MP:00053857.7BSCL2, INS, LEP, PTRF, LMNA, CAV1
9MP:00053707.6BSCL2, NHLRC1, INS, LEP, LMNA, CAV1
10MP:00053797.6INS, LEP, LMNA, FOS, CAV1, AGPAT2
11MP:00053907.6INS, LEP, LMNA, FOS, CAV1, AGPAT2
12MP:00053897.5BSCL2, INS, LEP, LMNA, FOS, CAV1
13MP:00107717.4BSCL2, INS, LEP, LMNA, FOS, CAV1
14MP:00053977.3BSCL2, INS, LEP, LMNA, FOS, CAV1
15MP:00036317.3NHLRC1, INS, LEP, LMNA, FOS, CAV1
16MP:00053877.3BSCL2, INS, LEP, LMNA, FOS, CAV1
17MP:00053787.0BSCL2, INS, LEP, PTRF, LMNA, FOS
18MP:00107687.0BSCL2, INS, LEP, PTRF, LMNA, FOS
19MP:00053846.9BSCL2, NHLRC1, INS, LEP, PTRF, LMNA
20MP:00053866.6AGPAT2, BSCL2, NHLRC1, INS, LEP, PTRF
21MP:00053766.6BSCL2, NHLRC1, INS, LEP, PTRF, LMNA

Publications for Congenital Generalized Lipodystrophy

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53PubMed
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Articles related to Congenital Generalized Lipodystrophy:

(show top 50)    (show all 85)
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
Pregnancy in a woman with congenital generalized lipodystrophy: leptin's vital role in reproduction. (22270436)
2012
4
Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). (22272673)
2012
5
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. (22902344)
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
Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case. (21508592)
2011
9
Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy. (20854387)
2010
10
A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene. (21126715)
2010
11
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
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
Energy balance in congenital generalized lipodystrophy type I. (18640396)
2008
16
Computed tomography findings of congenital generalized lipodystrophy: multiple nodular fatty liver and diffuse sclerosis of bones. (18026908)
2007
17
Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings. (15617555)
2005
18
Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. (15629135)
2005
19
Case 88: Congenital generalized lipodystrophy. (16244256)
2005
20
Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. (15126564)
2004
21
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. (14602785)
2003
22
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. (14557463)
2003
23
Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways. (12826327)
2003
24
Triglyceride-induced diabetes mellitus in congenital generalized lipodystrophy. (12008692)
2002
25
A case of congenital generalized lipodystrophy with lipoatrophic diabetes developing anti-insulin antibodies. (12207821)
2002
26
Congenital generalized lipodystrophy in a 4-month-old infant. (11695279)
2001
27
Skeletal muscle morphology and exercise response in congenital generalized lipodystrophy. (11023150)
2000
28
Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. (9784493)
1998
29
Severe islet amyloidosis in congenital generalized lipodystrophy. (8720529)
1996
30
Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping. Berardinelli-Seip Study Group. (8783773)
1996
31
Studies of insulin resistance in congenital generalized lipodystrophy. (8783770)
1996
32
Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings. (7502362)
1995
33
Buttock deformity repair for congenital generalized lipodystrophy. (7892323)
1995
34
Clostridial gas gangrene associated with congenital generalized lipodystrophy: report of a case. (7780235)
1994
35
Congenital generalized lipodystrophy associated with multiple sclerosis. (1592577)
1992
36
The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy. (1523434)
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
Studies in congenital generalized lipodystrophy. IV. Effect of muscular exercise on carbohydrate and fat metabolism including plasma levels of IRI and HGH. (1036653)
1976
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
Congenital generalized lipodystrophy. (165654)
1975
45
Studies in congenital generalized lipodystrophy. VI. Suppressible and non-suppressible insulin-like activities of plasma. (1174276)
1975
46
Studies in congenital generalized lipodystrophy. 3. Growth hormone levels. (4740840)
1973
47
Studies in congenital generalized lipodystrophy. V. Circulating insulin and pro-insulin. (4800354)
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

Variations for Congenital Generalized Lipodystrophy

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Congenital Generalized Lipodystrophy:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_001122955.3(BSCL2): c.604C> T (p.Arg202Ter)single nucleotide variantPathogenicrs137852970GRCh37Chr 11, 62462066: 62462066
2NM_001122955.3(BSCL2): c.826G> C (p.Ala276Pro)single nucleotide variantPathogenicrs137852971GRCh37Chr 11, 62459885: 62459885
3NM_001122955.3(BSCL2): c.1015C> T (p.Arg339Ter)single nucleotide variantPathogenicrs137852974GRCh37Chr 11, 62458604: 62458604
4NM_001122955.3(BSCL2): c.757G> T (p.Glu253Ter)single nucleotide variantPathogenicrs137852975GRCh37Chr 11, 62460143: 62460143

Expression for genes affiliated with Congenital Generalized Lipodystrophy

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Generalized Lipodystrophy

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Pathways for genes affiliated with Congenital Generalized Lipodystrophy

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51PathCards, 62Tocris Bioscience, 39NCBI BioSystems Database, 13EMD Millipore, 61Thomson Reuters, 56Reactome, 31KEGG, 55R&D Systems, 54QIAGEN
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Pathways related to Congenital Generalized Lipodystrophy according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Insulin Pathway39
9.7INS, CAV1
29.5FOS, CAV1
39.4FOS, INS
4
Show member pathways
FOXA transcription factor networks39
9.4INS, FOS
59.2LEP, INS
69.0FOS, LEP
7
Show member pathways
9.0FOS, LEP
88.9INS, LEP, CAV1
9
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
8.6FOS, LEP, INS
10
Show member pathways
IL-9 Signaling Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
8.6FOS, LEP, INS
118.1AGPAT2, LMNA, LEP, INS, BSCL2

Compounds for genes affiliated with Congenital Generalized Lipodystrophy

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46Novoseek, 12DrugBank, 52PharmGKB, 30IUPHAR, 25HMDB, 62Tocris Bioscience
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Compounds related to Congenital Generalized Lipodystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1exenatide46 1210.6LEP, INS
2pramlintide46 1210.5LEP, INS
3heroin46 52 1211.4LEPQTL1, FOS
4telmisartan46 30 1211.4LEP, INS
5cortisone46 2510.4LEP, INS
6tibolone469.4LEPQTL1, LEP
7cetrorelix46 30 1211.3LEP, FOS
8budesonide46 52 1211.1LEPQTL1, LEP
9sibutramine46 1210.1LEPQTL1, LEP, INS
10beta-hydroxybutyrate469.1INS, LEP, LEPQTL1
11acipimox46 3010.1LEPQTL1, LEP, INS
12intralipid469.1INS, LEP, LEPQTL1
13nash469.1INS, LEP, LEPQTL1
14orlistat46 62 1211.1INS, LEP, LEPQTL1
15dehydroepiandrosterone sulfate469.1INS, LEP, LEPQTL1
16c-peptide469.1INS, LEP, LEPQTL1
17metformin46 52 1211.1INS, LEP, LEPQTL1
18dhea469.1LEPQTL1, LEP, INS
19androstenedione46 2510.0LEPQTL1, LEP, INS
20uric acid46 2510.0INS, LEP, LEPQTL1
21carbohydrates469.0INS, LEP, LEPQTL1
22glycerol46 25 1210.9LEPQTL1, LEP, INS
23acth468.9INS, LEP, LEPQTL1
24thiazolidinedione468.9LEP, INS
25clozapine46 30 52 1211.9LEP, LEPQTL1, FOS
26corticosterone46 62 2510.9LEP, LEPQTL1, FOS
27triacylglycerol468.8INS, LEP, LEPQTL1, AGPAT2
28epinephrine46 25 1210.7LEPQTL1, LEP, INS
29fatty acid468.7INS, LEP, LEPQTL1, CAV1
30ly294002468.6INS, LEP, FOS, CAV1
31testosterone46 62 25 1211.6CAV1, LEPQTL1, LEP, INS
32wortmannin468.6INS, LEP, FOS, CAV1
33tamoxifen46 52 30 1211.6LEP, LEPQTL1, FOS, CAV1
34alanine468.5INS, LEPQTL1, LMNA, CAV1
35olanzapine46 52 30 25 1212.5INS, LEP, LEPQTL1, FOS
36troglitazone46 30 62 1211.5FOS, LEPQTL1, LEP, INS
37thyroxine46 259.5FOS, LEPQTL1, LEP, INS
38creatinine468.5LMNA, LEPQTL1, LEP, INS
39gnrh468.5INS, LEP, LEPQTL1, FOS
40vegf468.3CAV1, FOS, LEPQTL1, LEP
41rosiglitazone30 46 52 25 1212.3CAV1, LMNA, LEPQTL1, LEP, INS
42glutamate468.2INS, LEP, FOS, CAV1
43cholesterol46 30 25 1211.2INS, LEP, LEPQTL1, LMNA, CAV1
44arginine468.2CAV1, LMNA, LEPQTL1, LEP, INS
45glucose468.1INS, LEP, LEPQTL1, LMNA, CAV1
46dexamethasone46 52 30 1211.1CAV1, FOS, LEPQTL1, LEP, INS
47phosphatidylinositol468.1INS, LEP, LEPQTL1, FOS, CAV1
48estrogen468.1INS, LEP, LEPQTL1, FOS, CAV1
49lipid467.9LMNA, LEPQTL1, LEP, INS, CAV1, AGPAT2
50serine467.9INS, LEP, LMNA, FOS, CAV1

GO Terms for genes affiliated with Congenital Generalized Lipodystrophy

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17Gene Ontology
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Cellular components related to Congenital Generalized Lipodystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:0059019.8CAV1, PTRF
2endoplasmic reticulumGO:0057838.1AGPAT2, CAV1, FOS, PTRF, NHLRC1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1lipid storageGO:0199159.8BSCL2, CAV1
2negative regulation of lipid catabolic processGO:0509959.8INS, BSCL2
3positive regulation of insulin receptor signaling pathwayGO:0466289.3LEP, INS
4positive regulation of cytokine productionGO:0018199.3AGPAT2, LEP
5response to progesteroneGO:0325709.2CAV1, FOS
6positive regulation of MAPK cascadeGO:0434109.2LEP, INS
7glucose metabolic processGO:0060068.9LEP, INS, NHLRC1

Products for genes affiliated with Congenital Generalized Lipodystrophy

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  • Antibodies
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Sources for Congenital Generalized Lipodystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet