MCID: CNG012
MIFTS: 43

Congenital Generalized Lipodystrophy malady

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

Summaries for Congenital Generalized Lipodystrophy

About this section


Wikipedia:63 Congenital generalized lipodystrophy (also known as Berardinelli?Seip syndrome) is a very rare autosomal... more...

MalaCards based summary: Congenital Generalized Lipodystrophy, also known as familial generalized lipodystrophy, is related to berardinelli-seip congenital lipodystrophy and 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 skeletal muscle, and related mouse phenotypes are pigmentation and respiratory system.

Aliases & Classifications for Congenital Generalized Lipodystrophy

About this section

Congenital Generalized Lipodystrophy, Aliases & Descriptions:

Name: Congenital Generalized Lipodystrophy 9
Familial Generalized Lipodystrophy 60
 
Beradinelli-Seip Syndrome 9


Classifications:



External Ids:

Disease Ontology9 DOID:0050585

Related Diseases for Congenital Generalized Lipodystrophy

About this section

Diseases in the Acquired Generalized Lipodystrophy family:

Lipodystrophy, Congenital Generalized, Type 3 Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Congenital Generalized, Type 2 Lipodystrophy, Congenital Generalized, Type 4
congenital generalized lipodystrophy

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1berardinelli-seip congenital lipodystrophy31.2AGPAT2, BSCL2
2lipodystrophy30.5INS, BSCL2, LEP, AGPAT2, LMNA, PTRF
3myopathy30.1LMNA, INS, FOS
4lipodystrophy, congenital generalized, type 110.6
5distal hereditary motor neuropathy10.5AGPAT2
6lipodystrophy, congenital generalized, type 210.5
7rabson-mendenhall syndrome10.4INS
8mandibuloacral dysplasia10.4LMNA
9lipodystrophy, congenital generalized, type 410.4
10acquired generalized lipodystrophy10.3LEP
11lipodystrophy, congenital generalized, type 310.3
12diabetic ketoacidosis10.2LEPQTL1, INS
13hyperlipidemia, familial combined10.1LEPQTL1, INS
14encephalopathy, progressive, with or without lipodystrophy10.1
15insulin-like growth factor i10.1
16myocardial infarction10.1
17dilated cardiomyopathy10.1
18gas gangrene10.1
19hepatitis10.1
20amyloidosis10.1
21cervicitis10.1
22long qt syndrome10.1
23muscular dystrophy10.1
24mental retardation10.1
25angiomatosis10.1
26fetal macrosomia10.1LEP, INS
27anovulation10.1INS, LEP
28obstructive sleep apnea10.1LEPQTL1, LEP
29severe pre-eclampsia10.1LEP, LEPQTL1
30amenorrhea10.1INS, LEP
31protein-energy malnutrition10.0LEP, LEPQTL1
32bulimia nervosa10.0LEP, LEPQTL1
33morbid obesity10.0LEP, INS
34hypopituitarism10.0INS, LEP
35hypothyroidism10.0LEP, LEPQTL1
36cholera10.0FOS, INS, CAV1
37precocious puberty10.0LEP, LEPQTL1
38polycystic ovary syndrome10.0INS, LEP
39eating disorder10.0LEP, LEPQTL1
40liver cirrhosis10.0FOS, LEPQTL1, CAV1
41narcolepsy10.0LEPQTL1, LEP
42proteinuria9.9FOS, LEPQTL1, INS
43fatty liver disease9.9INS, LEP
44anorexia nervosa9.9LEP, LEPQTL1
45hypertension, essential9.9CAV1, INS, LEP
46retinoblastoma9.9CAV1, FOS, LMNA
47growth hormone deficiency9.9INS, LEP, LEPQTL1
48uremia9.9LEPQTL1, LEP
49nutritional deficiency disease9.9LEP, LEPQTL1
50hyperinsulinism9.9INS, 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

About this section

Drugs & Therapeutics for Congenital Generalized Lipodystrophy

About this section

Drug clinical trials:

Search ClinicalTrials for Congenital Generalized Lipodystrophy

Search NIH Clinical Center for Congenital Generalized Lipodystrophy

Genetic Tests for Congenital Generalized Lipodystrophy

About this section

Anatomical Context for Congenital Generalized Lipodystrophy

About this section

MalaCards organs/tissues related to Congenital Generalized Lipodystrophy:

31
Skin, Bone, Skeletal muscle, Adipocyte, Liver

Animal Models for Congenital Generalized Lipodystrophy or affiliated genes

About this section

MGI Mouse Phenotypes related to Congenital Generalized Lipodystrophy:

35 (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

About this section

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
Case 88: Congenital generalized lipodystrophy. (16244256)
2005
22
Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. (15126564)
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
A case of congenital generalized lipodystrophy with lipoatrophic diabetes developing anti-insulin antibodies. (12207821)
2002
28
Congenital generalized lipodystrophy in a 4-month-old infant. (11695279)
2001
29
Skeletal muscle morphology and exercise response in congenital generalized lipodystrophy. (11023150)
2000
30
Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. (9784493)
1998
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
Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings. (7502362)
1995
35
Buttock deformity repair for congenital generalized lipodystrophy. (7892323)
1995
36
Clostridial gas gangrene associated with congenital generalized lipodystrophy: report of a case. (7780235)
1994
37
Congenital generalized lipodystrophy associated with multiple sclerosis. (1592577)
1992
38
The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy. (1523434)
1992
39
Insulin resistance in a boy with congenital generalized lipodystrophy. (3060827)
1988
40
Congenital generalized lipodystrophy (a case report). (511329)
1979
41
Congenital generalized lipodystrophy with insulin-resistant diabetes. (203464)
1978
42
Decreased binding of insulin to its receptor in patients with congenital generalized lipodystrophy. (831106)
1977
43
Studies in congenital generalized lipodystrophy. IV. Effect of muscular exercise on carbohydrate and fat metabolism including plasma levels of IRI and HGH. (1036653)
1976
44
Congenital generalized lipodystrophy. Report on one case, with special reference to postmortem findings. (1251733)
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

About this section

Expression for genes affiliated with Congenital Generalized Lipodystrophy

About this section
Search GEO for disease gene expression data for Congenital Generalized Lipodystrophy.

Pathways for genes affiliated with Congenital Generalized Lipodystrophy

About this section

Pathways related to Congenital Generalized Lipodystrophy according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Insulin Pathway36
9.7INS, CAV1
29.5FOS, CAV1
39.4INS, FOS
4
Show member pathways
FOXA transcription factor networks36
9.4INS, FOS
59.0FOS, LEP
6
Show member pathways
9.0LEP, FOS
78.9INS, LEP, CAV1
8
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling58
Leptin signaling pathway36
8.6INS, FOS, LEP
9
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes58
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway58
8.6FOS, LEP, INS
108.1AGPAT2, LMNA, LEP, INS, BSCL2

Compounds for genes affiliated with Congenital Generalized Lipodystrophy

About this section

Compounds related to Congenital Generalized Lipodystrophy according to GeneCards Suite gene sharing:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1exenatide43 1210.6LEP, INS
2pramlintide43 1210.5LEP, INS
3heroin43 49 1211.4LEPQTL1, FOS
4telmisartan43 28 1211.4LEP, INS
5cortisone43 2410.4LEP, INS
6tibolone439.4LEPQTL1, LEP
7cetrorelix43 28 1211.3LEP, FOS
8budesonide43 49 1211.1LEPQTL1, LEP
9sibutramine43 1210.1LEPQTL1, LEP, INS
10beta-hydroxybutyrate439.1INS, LEP, LEPQTL1
11acipimox43 2810.1LEPQTL1, LEP, INS
12intralipid439.1INS, LEP, LEPQTL1
13nash439.1INS, LEP, LEPQTL1
14orlistat43 59 1211.1INS, LEP, LEPQTL1
15dehydroepiandrosterone sulfate439.1INS, LEP, LEPQTL1
16c-peptide439.1INS, LEP, LEPQTL1
17metformin43 49 1211.1INS, LEP, LEPQTL1
18dhea439.1LEPQTL1, LEP, INS
19androstenedione43 2410.0LEPQTL1, LEP, INS
20uric acid43 2410.0INS, LEP, LEPQTL1
21carbohydrates439.0INS, LEP, LEPQTL1
22glycerol43 24 1210.9LEPQTL1, LEP, INS
23acth438.9INS, LEP, LEPQTL1
24thiazolidinedione438.9LEP, INS
25clozapine43 28 49 1211.9LEP, LEPQTL1, FOS
26corticosterone43 59 2410.9LEP, LEPQTL1, FOS
27triacylglycerol438.8INS, LEP, LEPQTL1, AGPAT2
28epinephrine43 24 1210.7LEPQTL1, LEP, INS
29fatty acid438.7INS, LEP, LEPQTL1, CAV1
30ly294002438.6INS, LEP, FOS, CAV1
31testosterone43 59 24 1211.6CAV1, LEPQTL1, LEP, INS
32wortmannin438.6INS, LEP, FOS, CAV1
33tamoxifen43 49 28 1211.6LEP, LEPQTL1, FOS, CAV1
34alanine438.5INS, LEPQTL1, LMNA, CAV1
35olanzapine43 49 28 24 1212.5INS, LEP, LEPQTL1, FOS
36troglitazone43 28 59 1211.5FOS, LEPQTL1, LEP, INS
37thyroxine43 249.5FOS, LEPQTL1, LEP, INS
38creatinine438.5LMNA, LEPQTL1, LEP, INS
39gnrh438.5INS, LEP, LEPQTL1, FOS
40vegf438.3CAV1, FOS, LEPQTL1, LEP
41rosiglitazone28 43 49 24 1212.3CAV1, LMNA, LEPQTL1, LEP, INS
42glutamate438.2INS, LEP, FOS, CAV1
43cholesterol43 28 24 1211.2INS, LEP, LEPQTL1, LMNA, CAV1
44arginine438.2CAV1, LMNA, LEPQTL1, LEP, INS
45glucose438.1INS, LEP, LEPQTL1, LMNA, CAV1
46dexamethasone43 49 28 1211.1CAV1, FOS, LEPQTL1, LEP, INS
47phosphatidylinositol438.1INS, LEP, LEPQTL1, FOS, CAV1
48estrogen438.1INS, LEP, LEPQTL1, FOS, CAV1
49lipid437.9LMNA, LEPQTL1, LEP, INS, CAV1, AGPAT2
50serine437.9INS, LEP, LMNA, FOS, CAV1

GO Terms for genes affiliated with Congenital Generalized Lipodystrophy

About this section

Cellular components related to Congenital Generalized Lipodystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:00059019.8CAV1, PTRF
2endoplasmic reticulumGO:00057838.1AGPAT2, CAV1, FOS, PTRF, NHLRC1

Biological processes related to Congenital Generalized Lipodystrophy according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1lipid storageGO:00199159.8CAV1, BSCL2
2negative regulation of lipid catabolic processGO:00509959.8BSCL2, INS
3positive regulation of insulin receptor signaling pathwayGO:00466289.3INS, LEP
4positive regulation of cytokine productionGO:00018199.3AGPAT2, LEP
5response to progesteroneGO:00325709.2FOS, CAV1
6positive regulation of MAPK cascadeGO:00434109.2LEP, INS
7glucose metabolic processGO:00060068.9LEP, INS, NHLRC1

Products for genes affiliated with Congenital Generalized Lipodystrophy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Congenital Generalized Lipodystrophy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet