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 acquired lipodystrophy. An important gene associated with Complete Generalized Lipodystrophy is BSCL2 (BSCL2 Lipid Droplet Biogenesis Associated, Seipin), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include liver, heart and lung, 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 69)
# Related Disease Score Top Affiliating Genes
1 acquired generalized lipodystrophy 30.9 PLIN1 LMNA LEP INS CIDEC CAVIN1
2 acquired lipodystrophy 10.5 CAV1 BSCL2
3 hypothalamic obesity 10.4 LEP INS
4 donohue syndrome 10.4 INS BSCL2 AGPAT2
5 idiopathic recurrent pericarditis 10.4 LEP ADIPOQ
6 obesity-hypoventilation syndrome 10.3 LEP ADIPOQ
7 monogenic diabetes 10.3 LMNA INS BSCL2
8 mandibuloacral dysplasia with type a lipodystrophy 10.3 ZMPSTE24 LMNA
9 hypothalamic disease 10.3 LEP INS
10 nontuberculous mycobacterial lung disease 10.3 LEP ADIPOQ
11 acroosteolysis 10.3 ZMPSTE24 LMNA
12 fetal macrosomia 10.3 LEP INS
13 fatty liver disease, nonalcoholic 1 10.2 LEP INS ADIPOQ
14 laminopathy 10.2 ZMPSTE24 LMNA
15 maturity-onset diabetes of the young, type 1 10.2 LEP INS ADIPOQ
16 sex development disorder 10.2 LEP INS ADIPOQ
17 adult syndrome 10.2 LEP INS ADIPOQ
18 apnea, obstructive sleep 10.2 LEP INS ADIPOQ
19 reynolds syndrome 10.2 ZMPSTE24 LMNA
20 non-alcoholic steatohepatitis 10.2 PPARG INS ADIPOQ
21 idiopathic edema 10.2 PPARG INS ADIPOQ
22 sleep disorder 10.2 LEP INS ADIPOQ
23 adiposis dolorosa 10.1 ZMPSTE24 CIDEC BSCL2 AGPAT2
24 sleep apnea 10.1 LEP INS ADIPOQ
25 lipodystrophy, familial partial, type 3 10.1 PPARG LMNA CIDEC BSCL2 AGPAT2
26 proteasome-associated autoinflammatory syndrome 1 10.1 PPARG INS ADIPOQ
27 hyperandrogenism 10.1 PPARG INS ADIPOQ
28 lipodystrophy, familial partial, type 4 10.1 PLIN1 LMNA CIDEC CAVIN1 AGPAT2
29 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.1 PPARG LEP INS ADIPOQ
30 prediabetes syndrome 10.1 PPARG LEP INS ADIPOQ
31 endocrine pancreas disease 10.1 PPARG LEP INS ADIPOQ
32 abdominal obesity-metabolic syndrome 1 10.0 PPARG LEP INS ADIPOQ
33 fatty liver disease 10.0 PPARG LEP INS ADIPOQ
34 leptin deficiency or dysfunction 10.0 PPARG LEP INS ADIPOQ
35 lipid storage disease 10.0 PPARG LEP INS ADIPOQ
36 familial hyperlipidemia 10.0 PPARG LEP INS ADIPOQ
37 inherited metabolic disorder 10.0 PPARG LEP INS ADIPOQ
38 gestational diabetes 10.0 PPARG LEP INS ADIPOQ
39 glucose metabolism disease 10.0 PPARG LEP INS ADIPOQ
40 hyperinsulinism 10.0 PPARG LEP INS ADIPOQ
41 muscular disease 10.0 LMNA LEP INS CAVIN1 CAV1
42 atherosclerosis susceptibility 10.0 PPARG LEP INS ADIPOQ
43 acquired metabolic disease 10.0 PPARG LEP INS ADIPOQ
44 lipodystrophy, familial partial, type 1 10.0 ZMPSTE24 LMNA CIDEC CAVIN1 AGPAT2
45 lipodystrophy, congenital generalized, type 4 10.0 GPAT3 CAVIN1 CAV1 BSCL2 AGPAT2
46 charcot-marie-tooth disease, axonal, type 2b1 10.0 ZMPSTE24 LMNA
47 pigmentation disease 10.0 LMNA LEP INS CAVIN1 BSCL2 AGPAT2
48 berardinelli-seip congenital lipodystrophy 10.0 PPARG LEP CAVIN1 CAV1 BSCL2 AGPAT2
49 hutchinson-gilford progeria syndrome 10.0 ZMPSTE24 LMNA ADIPOQ
50 hyperglycemia 10.0 PPARG LEP INS ADIPOQ

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:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 ADIPOQ AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC
2 adipose tissue MP:0005375 10.34 ADIPOQ AGPAT2 BSCL2 CAV1 CIDEC GPAT3
3 growth/size/body region MP:0005378 10.31 ADIPOQ AGPAT2 BSCL2 CAV1 CAVIN1 CIDEC
4 homeostasis/metabolism MP:0005376 10.31 ADIPOQ AGPAT1 AGPAT2 BSCL2 CAV1 CAVIN1
5 cardiovascular system MP:0005385 10.27 ADIPOQ AGPAT1 BSCL2 CAV1 CAVIN1 INS
6 endocrine/exocrine gland MP:0005379 10.23 ADIPOQ AGPAT2 BSCL2 CAV1 GPAT4 INS
7 integument MP:0010771 10.21 ADIPOQ AGPAT2 BSCL2 CAV1 CIDEC GPAT4
8 liver/biliary system MP:0005370 10.13 ADIPOQ AGPAT2 BSCL2 CAV1 CIDEC GPAT3
9 mortality/aging MP:0010768 10.1 ADIPOQ AGPAT1 AGPAT2 BSCL2 CAV1 CAVIN1
10 digestive/alimentary MP:0005381 10.02 AGPAT2 BSCL2 CAV1 INS LEP LMNA
11 muscle MP:0005369 9.85 ADIPOQ CAV1 CAVIN1 INS LEP LMNA
12 renal/urinary system MP:0005367 9.65 ADIPOQ AGPAT2 BSCL2 CAV1 CAVIN1 INS
13 skeleton MP:0005390 9.32 ADIPOQ AGPAT2 BSCL2 CAV1 INS LEP

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:

40
Liver, Heart, Lung, Pancreas

Publications for Complete Generalized Lipodystrophy

Articles related to Complete Generalized Lipodystrophy:

# Title Authors PMID Year
1
Cardiomyopathy in congenital complete lipodystrophy. 61
12030893 2002

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:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 STT3A PPARG PLIN1 MGAT1 MBOAT2 LPIN1
2
Show member pathways
12.71 MBOAT2 LPIN1 GPAT4 GPAT3 AGPAT2 AGPAT1
3
Show member pathways
12.58 PPARG PLIN1 LPIN1 LEP GPAT4 GPAT3
4 12.36 PPARG PLIN1 LPIN1 INS BSCL2 AGPAT2
5
Show member pathways
12.33 LPIN1 GPAT4 GPAT3 AGPAT2 AGPAT1
6
Show member pathways
12.26 PPARG LEP INS ADIPOQ
7
Show member pathways
12 MBOAT2 GPAT4 GPAT3 AGPAT2 AGPAT1
8 11.59 PPARG PLIN1 ADIPOQ
9 11.56 PPARG LPIN1 INS
10
Show member pathways
11.5 MBOAT2 GPAT4 GPAT3 AGPAT2 AGPAT1
11 11.44 ZMPSTE24 PPARG PLIN1 LPIN1 LMNA LEP
12 11.39 LEP INS CAV1
13 11.22 MBOAT2 LPIN1 GPAT4 GPAT3 AGPAT2 AGPAT1
14 11.03 PPARG LEP ADIPOQ
15 11.01 PPARG LPIN1 LEP ADIPOQ
16 10.86 LEP INS

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 9.65 ZMPSTE24 STT3A MBOAT2 LPIN1 GPAT4 GPAT3
2 endoplasmic reticulum GO:0005783 9.44 ZMPSTE24 STT3A PLIN1 LPIN1 GPAT4 GPAT3
3 lipid droplet GO:0005811 9.33 PLIN1 CIDEC CAV1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 cellular response to insulin stimulus GO:0032869 9.75 PPARG LPIN1 ADIPOQ
2 glucose homeostasis GO:0042593 9.73 PPARG LEP INS ADIPOQ
3 response to nutrient GO:0007584 9.72 PPARG LEP ADIPOQ
4 phospholipid metabolic process GO:0006644 9.7 MBOAT2 AGPAT2 AGPAT1
5 glucose metabolic process GO:0006006 9.69 LEP INS ADIPOQ
6 positive regulation of cold-induced thermogenesis GO:0120162 9.65 LPIN1 LEP CAV1 BSCL2 ADIPOQ
7 regulation of nitric-oxide synthase activity GO:0050999 9.63 LEP CAV1
8 regulation of fat cell differentiation GO:0045598 9.63 PPARG LEP
9 lipid droplet organization GO:0034389 9.62 CIDEC BSCL2
10 negative regulation of gluconeogenesis GO:0045721 9.62 INS ADIPOQ
11 phosphatidic acid biosynthetic process GO:0006654 9.62 GPAT4 GPAT3 AGPAT2 AGPAT1
12 determination of adult lifespan GO:0008340 9.61 ZMPSTE24 LEP
13 nuclear envelope organization GO:0006998 9.61 ZMPSTE24 LMNA
14 negative regulation of lipid catabolic process GO:0050995 9.6 INS BSCL2
15 positive regulation of cellular protein metabolic process GO:0032270 9.59 INS ADIPOQ
16 fatty acid oxidation GO:0019395 9.58 PPARG ADIPOQ
17 positive regulation of cytokine production GO:0001819 9.58 LEP AGPAT2 AGPAT1
18 fatty acid catabolic process GO:0009062 9.57 LPIN1 LEP
19 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.56 PPARG ADIPOQ
20 phospholipid biosynthetic process GO:0008654 9.55 MBOAT2 GPAT4 GPAT3 AGPAT2 AGPAT1
21 positive regulation of cytokine-mediated signaling pathway GO:0001961 9.54 AGPAT2 AGPAT1
22 triglyceride biosynthetic process GO:0019432 9.54 LPIN1 GPAT4 GPAT3
23 regulation of protein localization to nucleus GO:1900180 9.49 LMNA LEP
24 cellular response to hyperoxia GO:0071455 9.48 PPARG CAV1
25 negative regulation of acute inflammatory response GO:0002674 9.46 PPARG INS
26 lipid metabolic process GO:0006629 9.32 PPARG PLIN1 MBOAT2 LPIN1 LEP GPAT4
27 CDP-diacylglycerol biosynthetic process GO:0016024 9.26 GPAT4 GPAT3 AGPAT2 AGPAT1

Molecular functions related to Complete Generalized Lipodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.5 LEP INS ADIPOQ
2 transferase activity, transferring acyl groups GO:0016746 9.35 MBOAT2 GPAT4 GPAT3 AGPAT2 AGPAT1
3 sn-1-glycerol-3-phosphate C16:0-DCA-CoA acyl transferase activity GO:0102420 9.26 GPAT4 GPAT3
4 glycerol-3-phosphate O-acyltransferase activity GO:0004366 9.16 GPAT4 GPAT3
5 1-acylglycerol-3-phosphate O-acyltransferase activity GO:0003841 9.02 MBOAT2 GPAT4 GPAT3 AGPAT2 AGPAT1

Sources for Complete Generalized Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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