MCID: CNG012
MIFTS: 53

Congenital Generalized Lipodystrophy malady

Genetic diseases, Skin diseases, Rare diseases, Endocrine diseases, Fetal diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Congenital Generalized Lipodystrophy

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MalaCards based summary: Congenital Generalized Lipodystrophy, also known as congenital generalized lipodystrophy type 2, is related to berardinelli-seip congenital lipodystrophy and lipodystrophy. An important gene associated with Congenital Generalized Lipodystrophy is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)), 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 skeletal muscle, and related mouse phenotypes are pigmentation and respiratory system.

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

Aliases & Classifications for Congenital Generalized Lipodystrophy

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Congenital Generalized Lipodystrophy, Aliases & Descriptions:

Name: Congenital Generalized Lipodystrophy 8
Congenital Generalized Lipodystrophy Type 2 62
 
Lipodystrophy, Congenital Generalized 62
Beradinelli-Seip Syndrome 8


Classifications:



External Ids:

Disease Ontology8 DOID:0050585

Related Diseases for Congenital Generalized Lipodystrophy

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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
1berardinelli-seip congenital lipodystrophy31.3AGPAT2, BSCL2
2lipodystrophy30.5INS, BSCL2, LEP, AGPAT2, LMNA, PTRF
3myopathy30.1LMNA, INS, FOS
4congenital generalized lipodystrophy type 229.9INS, BSCL2, LEP, LEPQTL1, LMNA, AGPAT2
5diabetes mellitus29.8BSCL2, INS, LEP, LEPQTL1, LMNA
6insulin resistance29.4BSCL2, LEP, INS, LEPQTL1, LMNA, FOS
7congenital generalized lipodystrophy type 110.6
8congenital generalized lipodystrophy type 410.5
9distal hereditary motor neuropathy10.5AGPAT2
10congenital generalized lipodystrophy type 310.5
11rabson-mendenhall syndrome10.4INS
12mandibuloacral dysplasia10.4LMNA
13acquired generalized lipodystrophy10.3LEP
14lipoatrophic diabetes10.3
15diabetic ketoacidosis10.2LEPQTL1, INS
16familial combined hyperlipidemia10.1LEPQTL1, INS
17dilated cardiomyopathy10.1
18gas gangrene10.1
19hepatitis10.1
20multiple sclerosis10.1
21myocardial infarction10.1
22lafora disease10.1
23amyloidosis10.1
24cervicitis10.1
25long qt syndrome10.1
26muscular dystrophy10.1
27mental retardation10.1
28angiomatosis10.1
29short stature10.1
30encephalopathy, progressive, with or without lipodystrophy10.1
31fetal macrosomia10.1LEP, INS
32anovulation10.1INS, LEP
33obstructive sleep apnea10.1LEPQTL1, LEP
34severe pre-eclampsia10.1LEP, LEPQTL1
35amenorrhea10.1INS, LEP
36protein-energy malnutrition10.1LEP, LEPQTL1
37bulimia nervosa10.0LEP, LEPQTL1
38morbid obesity10.0LEP, INS
39hypopituitarism10.0INS, LEP
40hypothyroidism10.0LEP, LEPQTL1
41cholera10.0FOS, INS, CAV1
42precocious puberty10.0LEP, LEPQTL1
43polycystic ovary syndrome10.0INS, LEP
44eating disorder10.0LEP, LEPQTL1
45liver cirrhosis10.0FOS, LEPQTL1, CAV1
46narcolepsy10.0LEPQTL1, LEP
47proteinuria9.9FOS, LEPQTL1, INS
48hypertension9.9CAV1, INS, LEP
49fatty liver disease9.9INS, LEP
50anorexia nervosa9.9LEP, 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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Clinical features from OMIM:

613327,612526,608594,269700

Drugs & Therapeutics for Congenital Generalized Lipodystrophy

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Drug clinical trials:

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Genetic Tests for Congenital Generalized Lipodystrophy

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Anatomical Context for Congenital Generalized Lipodystrophy

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MalaCards organs/tissues related to Congenital Generalized Lipodystrophy:

32
Skin, Bone, Skeletal muscle, Adipocyte, Liver

Animal Models for Congenital Generalized Lipodystrophy or affiliated genes

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MGI Mouse Phenotypes related to Congenital Generalized Lipodystrophy:

36 (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:00053857.8BSCL2, 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:00053897.6BSCL2, 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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Articles related to Congenital Generalized Lipodystrophy:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
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
2
Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome. (24980513)
2014
3
Bone mineral content in patients with congenital generalized lipodystrophy is unaffected by metreleptin replacement therapy. (25070319)
2014
4
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family. (23659685)
2013
5
A mutation in the c-fos gene associated with congenital generalized lipodystrophy. (23919306)
2013
6
Pregnancy in a woman with congenital generalized lipodystrophy: leptin's vital role in reproduction. (22270436)
2012
7
Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). (22272673)
2012
8
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. (22902344)
2012
9
Pathology of congenital generalized lipodystrophy in Agpat2-/- mice. (21051554)
2011
10
Serum retinol binding protein 4 is not decreased in congenital generalized lipodystrophy: a case series. (21779631)
2011
11
Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case. (21508592)
2011
12
Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy. (20854387)
2010
13
A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene. (21126715)
2010
14
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations. (19438831)
2009
15
Congenital generalized lipodystrophy: a case report with neurological involvement]. (19026526)
2009
16
Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. (19187773)
2009
17
Energy balance in congenital generalized lipodystrophy type I. (18640396)
2008
18
Computed tomography findings of congenital generalized lipodystrophy: multiple nodular fatty liver and diffuse sclerosis of bones. (18026908)
2007
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
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. (14602785)
2003
23
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. (14557463)
2003
24
Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways. (12826327)
2003
25
Triglyceride-induced diabetes mellitus in congenital generalized lipodystrophy. (12008692)
2002
26
A case of congenital generalized lipodystrophy with lipoatrophic diabetes developing anti-insulin antibodies. (12207821)
2002
27
Congenital generalized lipodystrophy in a 4-month-old infant. (11695279)
2001
28
Skeletal muscle morphology and exercise response in congenital generalized lipodystrophy. (11023150)
2000
29
Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. (9784493)
1998
30
Severe islet amyloidosis in congenital generalized lipodystrophy. (8720529)
1996
31
Genetics of the Berardinelli-Seip syndrome (congenital generalized lipodystrophy) in Norway: epidemiology and gene mapping. Berardinelli-Seip Study Group. (8783773)
1996
32
Studies of insulin resistance in congenital generalized lipodystrophy. (8783770)
1996
33
Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings. (7502362)
1995
34
Buttock deformity repair for congenital generalized lipodystrophy. (7892323)
1995
35
Clostridial gas gangrene associated with congenital generalized lipodystrophy: report of a case. (7780235)
1994
36
Congenital generalized lipodystrophy associated with multiple sclerosis. (1592577)
1992
37
The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy. (1523434)
1992
38
Insulin resistance in a boy with congenital generalized lipodystrophy. (3060827)
1988
39
Congenital generalized lipodystrophy (a case report). (511329)
1979
40
Congenital generalized lipodystrophy with insulin-resistant diabetes. (203464)
1978
41
Decreased binding of insulin to its receptor in patients with congenital generalized lipodystrophy. (831106)
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
Congenital generalized lipodystrophy. Report on one case, with special reference to postmortem findings. (1251733)
1976
44
The myopahtology of congenital generalized lipodystrophy light and electron microscopic observations. (1011408)
1976
45
Congenital generalized lipodystrophy. (165654)
1975
46
Studies in congenital generalized lipodystrophy. VI. Suppressible and non-suppressible insulin-like activities of plasma. (1174276)
1975
47
Studies in congenital generalized lipodystrophy. 3. Growth hormone levels. (4740840)
1973
48
Studies in congenital generalized lipodystrophy. V. Circulating insulin and pro-insulin. (4800354)
1973
49
Congenital generalized lipodystrophy-case report and observations on 11 patients in Japan. (4668770)
1972
50
Congenital generalized lipodystrophy. (4318181)
1970

Variations for Congenital Generalized Lipodystrophy

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Clinvar genetic disease variations for Congenital Generalized Lipodystrophy:

6
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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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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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 Pathway37
9.7INS, CAV1
29.5FOS, CAV1
39.4FOS, INS
4
Show member pathways
FOXA transcription factor networks37
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 Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
8.6FOS, LEP, INS
10
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
8.6FOS, LEP, INS
118.1AGPAT2, LMNA, LEP, INS, BSCL2

Compounds for genes affiliated with Congenital Generalized Lipodystrophy

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Compounds related to Congenital Generalized Lipodystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1exenatide44 1110.6LEP, INS
2pramlintide44 1110.5LEP, INS
3heroin44 50 1111.4LEPQTL1, FOS
4telmisartan44 28 1111.4LEP, INS
5cortisone44 2410.4LEP, INS
6tibolone449.4LEPQTL1, LEP
7cetrorelix44 28 1111.3LEP, FOS
8budesonide44 50 1111.1LEPQTL1, LEP
9sibutramine44 1110.1LEPQTL1, LEP, INS
10beta-hydroxybutyrate449.1INS, LEP, LEPQTL1
11acipimox44 2810.1LEPQTL1, LEP, INS
12intralipid449.1INS, LEP, LEPQTL1
13nash449.1INS, LEP, LEPQTL1
14orlistat44 61 1111.1INS, LEP, LEPQTL1
15dehydroepiandrosterone sulfate449.1INS, LEP, LEPQTL1
16c-peptide449.1INS, LEP, LEPQTL1
17metformin44 50 1111.1INS, LEP, LEPQTL1
18dhea449.1LEPQTL1, LEP, INS
19androstenedione44 2410.0LEPQTL1, LEP, INS
20uric acid44 2410.0INS, LEP, LEPQTL1
21carbohydrates449.0INS, LEP, LEPQTL1
22glycerol44 24 1110.9LEPQTL1, LEP, INS
23acth448.9INS, LEP, LEPQTL1
24thiazolidinedione448.9LEP, INS
25clozapine44 28 50 1111.9LEP, LEPQTL1, FOS
26corticosterone44 61 2410.9LEP, LEPQTL1, FOS
27triacylglycerol448.8INS, LEP, LEPQTL1, AGPAT2
28epinephrine44 24 1110.7LEPQTL1, LEP, INS
29fatty acid448.7INS, LEP, LEPQTL1, CAV1
30ly294002448.6INS, LEP, FOS, CAV1
31testosterone44 61 24 1111.6CAV1, LEPQTL1, LEP, INS
32wortmannin448.6INS, LEP, FOS, CAV1
33tamoxifen44 50 28 1111.6LEP, LEPQTL1, FOS, CAV1
34alanine448.5INS, LEPQTL1, LMNA, CAV1
35olanzapine44 50 28 24 1112.5INS, LEP, LEPQTL1, FOS
36troglitazone44 28 61 1111.5FOS, LEPQTL1, LEP, INS
37thyroxine44 249.5FOS, LEPQTL1, LEP, INS
38creatinine448.5LMNA, LEPQTL1, LEP, INS
39gnrh448.5INS, LEP, LEPQTL1, FOS
40vegf448.3CAV1, FOS, LEPQTL1, LEP
41rosiglitazone28 44 50 24 1112.3CAV1, LMNA, LEPQTL1, LEP, INS
42glutamate448.2INS, LEP, FOS, CAV1
43cholesterol44 28 24 1111.2INS, LEP, LEPQTL1, LMNA, CAV1
44arginine448.2CAV1, LMNA, LEPQTL1, LEP, INS
45glucose448.1INS, LEP, LEPQTL1, LMNA, CAV1
46dexamethasone44 50 28 1111.1CAV1, FOS, LEPQTL1, LEP, INS
47phosphatidylinositol448.1INS, LEP, LEPQTL1, FOS, CAV1
48estrogen448.1INS, LEP, LEPQTL1, FOS, CAV1
49lipid447.9LMNA, LEPQTL1, LEP, INS, CAV1, AGPAT2
50serine447.9INS, LEP, LMNA, FOS, CAV1

GO Terms for genes affiliated with Congenital Generalized Lipodystrophy

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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:0018199.2AGPAT2, 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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet