MCID: CMP096
MIFTS: 25

Complete Generalized Lipodystrophy

Aliases & Classifications for Complete Generalized Lipodystrophy

MalaCards integrated aliases for Complete Generalized Lipodystrophy:

Name: Complete Generalized Lipodystrophy 12 15

External Ids:

Disease Ontology 12 DOID:0080298

Summaries for Complete Generalized Lipodystrophy

Disease Ontology : 12 A lipodystrophy that is characterized by complete loss of adipose tissue.

MalaCards based summary : Complete Generalized Lipodystrophy is related to acquired generalized lipodystrophy and spastic paraplegia 17, autosomal dominant. An important gene associated with Complete Generalized Lipodystrophy is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin), and among its related pathways/superpathways are Cytoskeletal Signaling and AMP-activated Protein Kinase (AMPK) Signaling. Affiliated tissues include pancreas and liver, and related phenotypes are behavior/neurological and adipose tissue

Related Diseases for Complete Generalized Lipodystrophy

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 acquired generalized lipodystrophy 29.0 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
2 spastic paraplegia 17, autosomal dominant 10.2 AGPAT2 BSCL2
3 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.1 INS LEP
4 autosomal dominant limb-girdle muscular dystrophy 10.1 CAV1 LMNA
5 nonalcoholic steatohepatitis 10.0 INS LEP
6 fatty liver disease, nonalcoholic 1 10.0 INS LEP
7 fetal macrosomia 10.0 INS LEP
8 adiposis dolorosa 10.0 AGPAT2 ZMPSTE24
9 apnea, obstructive sleep 10.0 INS LEP
10 maturity-onset diabetes of the young, type 10 10.0 INS PPARG
11 endocrine pancreas disease 10.0 INS LEP
12 monogenic diabetes 10.0 BSCL2 INS
13 pancreas disease 10.0 INS LEP
14 pigmentation disease 9.9 AGPAT2 BSCL2 INS
15 idiopathic edema 9.9 INS PPARG
16 alstrom syndrome 9.9 INS LEP
17 mandibuloacral dysplasia with type a lipodystrophy 9.9 LMNA ZMPSTE24
18 restrictive dermopathy, lethal 9.9 LMNA ZMPSTE24
19 acroosteolysis 9.9 LMNA ZMPSTE24
20 ovarian cystadenoma 9.9 LMNA ZMPSTE24
21 reynolds syndrome 9.9 LMNA ZMPSTE24
22 sleep disorder 9.9 INS LEP
23 anovulation 9.9 INS LEP
24 hallermann-streiff syndrome 9.8 LMNA ZMPSTE24
25 abdominal obesity-metabolic syndrome 1 9.8 INS LEP PPARG
26 diabetic neuropathy 9.8 INS LEP
27 lipodystrophy, congenital generalized, type 3 9.8 AGPAT2 BSCL2 CAV1 CAVIN1
28 prediabetes syndrome 9.8 INS LEP PPARG
29 3-hydroxyacyl-coa dehydrogenase deficiency 9.8 INS LEP PPARG
30 overnutrition 9.8 INS LEP PPARG
31 arteries, anomalies of 9.8 INS LEP PPARG
32 lipid metabolism disorder 9.8 INS LEP PPARG
33 glucose metabolism disease 9.8 INS LEP PPARG
34 berardinelli-seip congenital lipodystrophy 9.8 AGPAT2 BSCL2 CAV1 LEP
35 acquired metabolic disease 9.8 INS LEP PPARG
36 glucose intolerance 9.8 INS LEP PPARG
37 hyperglycemia 9.8 INS LEP PPARG
38 maturity-onset diabetes of the young, type 1 9.8 INS LEP PPARG
39 lipodystrophy, familial partial, type 3 9.7 AGPAT2 BSCL2 LMNA PPARG
40 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.7 AGPAT2 BSCL2 INS LMNA
41 lipodystrophy, familial partial, type 2 9.6 AGPAT2 INS LEP LMNA
42 lipodystrophy, familial partial, type 1 9.5 INS LEP LMNA PPARG
43 lipodystrophy, congenital generalized, type 2 9.5 AGPAT2 BSCL2 CAVIN1 LMNA PPARG
44 lipodystrophy, congenital generalized, type 4 9.5 AGPAT2 BSCL2 CAV1 CAVIN1 LMNA
45 hutchinson-gilford progeria syndrome 9.5 LMNA ZMPSTE24
46 acanthosis nigricans 9.5 INS LEP LMNA PPARG
47 body mass index quantitative trait locus 11 9.5 INS LEP LMNA PPARG
48 diabetes mellitus, noninsulin-dependent 9.5 INS LEP LMNA PPARG
49 lipodystrophy, congenital generalized, type 1 9.0 AGPAT2 BSCL2 INS LEP LMNA ZMPSTE24
50 familial partial lipodystrophy 8.9 AGPAT2 BSCL2 CAVIN1 INS LEP LMNA

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



Diseases related to Complete Generalized Lipodystrophy

Symptoms & Phenotypes for Complete Generalized Lipodystrophy

MGI Mouse Phenotypes related to Complete Generalized Lipodystrophy:

47 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
2 adipose tissue MP:0005375 10.17 AGPAT2 BSCL2 CAV1 INS LEP LMNA
3 cardiovascular system MP:0005385 10.15 BSCL2 CAV1 CAVIN1 INS LEP LMNA
4 growth/size/body region MP:0005378 10.15 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
5 cellular MP:0005384 10.14 BSCL2 CAV1 CAVIN1 INS LEP LMNA
6 endocrine/exocrine gland MP:0005379 10.11 AGPAT2 BSCL2 CAV1 INS LEP LMNA
7 homeostasis/metabolism MP:0005376 10.11 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
8 hematopoietic system MP:0005397 10.08 AGPAT2 BSCL2 CAV1 INS LEP LMNA
9 digestive/alimentary MP:0005381 10.07 AGPAT2 BSCL2 CAV1 INS LEP LMNA
10 immune system MP:0005387 10.03 AGPAT2 BSCL2 CAV1 INS LEP LMNA
11 integument MP:0010771 10.01 AGPAT2 BSCL2 CAV1 INS LEP LMNA
12 liver/biliary system MP:0005370 9.97 AGPAT2 BSCL2 CAV1 INS LEP LMNA
13 mortality/aging MP:0010768 9.97 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
14 renal/urinary system MP:0005367 9.81 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
15 muscle MP:0005369 9.8 CAV1 CAVIN1 INS LEP LMNA PPARG
16 reproductive system MP:0005389 9.43 BSCL2 CAV1 INS LEP LMNA PPARG
17 skeleton MP:0005390 9.23 AGPAT2 BSCL2 CAV1 INS LEP LMNA

Drugs & Therapeutics for Complete Generalized Lipodystrophy

Search Clinical Trials , NIH Clinical Center for Complete Generalized Lipodystrophy

Genetic Tests for Complete Generalized Lipodystrophy

Anatomical Context for Complete Generalized Lipodystrophy

MalaCards organs/tissues related to Complete Generalized Lipodystrophy:

42
Pancreas, Liver

Publications for Complete Generalized Lipodystrophy

Variations for Complete Generalized Lipodystrophy

Expression for Complete Generalized Lipodystrophy

Search GEO for disease gene expression data for Complete Generalized Lipodystrophy.

Pathways for Complete Generalized Lipodystrophy

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

# Super pathways Score Top Affiliating Genes
1 12.1 CAV1 CAVIN1 LMNA
2
Show member pathways
11.96 INS LEP PPARG
3 11.95 AGPAT2 BSCL2 INS PPARG
4 11.29 AGPAT2 BSCL2 INS LEP LMNA PPARG
5 11.04 CAV1 INS
6 10.83 CAV1 INS LEP
7 10.72 LEP PPARG
8 10.6 LEP PPARG

GO Terms for Complete Generalized Lipodystrophy

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.46 AGPAT2 BSCL2 CAV1 ZMPSTE24
2 endoplasmic reticulum GO:0005783 9.35 AGPAT2 BSCL2 CAV1 CAVIN1 ZMPSTE24
3 protein-containing complex GO:0032991 8.92 CAV1 CAVIN1 PPARG ZMPSTE24

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.8 AGPAT2 BSCL2 LEP PPARG
2 positive regulation of gene expression GO:0010628 9.67 CAV1 INS LMNA ZMPSTE24
3 regulation of blood pressure GO:0008217 9.58 LEP PPARG
4 glucose metabolic process GO:0006006 9.57 INS LEP
5 placenta development GO:0001890 9.56 LEP PPARG
6 nucleus organization GO:0006997 9.55 LMNA ZMPSTE24
7 positive regulation of cytokine production GO:0001819 9.54 AGPAT2 LEP
8 lipid storage GO:0019915 9.52 BSCL2 CAV1
9 regulation of nitric-oxide synthase activity GO:0050999 9.51 CAV1 LEP
10 glucose homeostasis GO:0042593 9.5 INS LEP PPARG
11 nuclear envelope organization GO:0006998 9.48 LMNA ZMPSTE24
12 negative regulation of lipid catabolic process GO:0050995 9.46 BSCL2 INS
13 positive regulation of insulin receptor signaling pathway GO:0046628 9.43 INS LEP
14 positive regulation of cold-induced thermogenesis GO:0120162 9.43 BSCL2 CAV1 LEP
15 regulation of fat cell differentiation GO:0045598 9.4 LEP PPARG
16 cellular response to hyperoxia GO:0071455 9.16 CAV1 PPARG
17 negative regulation of acute inflammatory response GO:0002674 8.96 INS PPARG
18 regulation of protein localization to nucleus GO:1900180 8.62 LEP LMNA

Sources for Complete Generalized Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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41 LOVD
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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