MCID: CMP096
MIFTS: 24

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 AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Glycerophospholipid biosynthesis. Related phenotypes are adipose tissue and behavior/neurological

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 76)
# Related Disease Score Top Affiliating Genes
1 acquired generalized lipodystrophy 30.7 ZMPSTE24 LMNA LEP CIDEC CAVIN1 BSCL2
2 acquired lipodystrophy 10.4 CAV1 BSCL2
3 rare genetic diabetes mellitus 10.4 LMNA BSCL2
4 autosomal dominant distal hereditary motor neuronopathy 10.3 LMNA BSCL2 AGPAT2
5 hypothalamic obesity 10.3 LEP INS
6 isolated elevated serum creatine phosphokinase levels 10.3 LMNA CAV1 AGPAT2
7 donohue syndrome 10.3 INS BSCL2 AGPAT2
8 lipodystrophy, congenital generalized, type 4 10.3 CAVIN1 CAV1 BSCL2 AGPAT2
9 lipodystrophy, familial partial, type 4 10.3 PLIN1 LMNA CIDEC
10 mandibuloacral dysplasia with type a lipodystrophy 10.2 ZMPSTE24 LMNA
11 monogenic diabetes 10.2 LMNA INS BSCL2
12 idiopathic recurrent pericarditis 10.2 LEP ADIPOQ
13 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.2 ZMPSTE24 LMNA BSCL2
14 obesity-hypoventilation syndrome 10.2 LEP ADIPOQ
15 acroosteolysis 10.2 ZMPSTE24 LMNA
16 laminopathy 10.1 ZMPSTE24 LMNA
17 nontuberculous mycobacterial lung disease 10.1 LEP ADIPOQ
18 hypothalamic disease 10.1 LEP INS
19 reynolds syndrome 10.1 ZMPSTE24 LMNA
20 thyroid gland disease 10.1 PPARG LEP INS
21 bone resorption disease 10.1 PPARG LEP INS
22 lipodystrophy, familial partial, type 1 10.1 LMNA CIDEC CAVIN1 BSCL2 AGPAT2
23 adiposis dolorosa 10.1 ZMPSTE24 CIDEC BSCL2 AGPAT2
24 spastic paraplegia 17, autosomal dominant 10.1 TMEM159 BSCL2 AGPAT2
25 lipodystrophy, congenital generalized, type 3 10.1 LPIN1 CAVIN1 CAV1 BSCL2 AGPAT2
26 hyperuricemia 10.0 PPARG LEP INS
27 lipodystrophy, familial partial, type 3 10.0 PPARG LMNA CIDEC BSCL2 AGPAT2
28 fatty liver disease, nonalcoholic 1 10.0 LEP INS ADIPOQ
29 pica disease 10.0 LEP INS
30 apnea, obstructive sleep 10.0 LEP INS ADIPOQ
31 idiopathic edema 10.0 PPARG INS ADIPOQ
32 pellagra 9.9 PPARG INS ADIPOQ
33 sleep disorder 9.9 LEP INS ADIPOQ
34 berardinelli-seip congenital lipodystrophy 9.9 PPARG LEP CAVIN1 CAV1 BSCL2 AGPAT2
35 fetal akinesia deformation sequence 1 9.9 PPARG PLIN1 INS AGPAT1
36 hyperandrogenism 9.9 PPARG INS ADIPOQ
37 pigmentation disease 9.8 LMNA LEP INS CAVIN1 BSCL2 AGPAT2
38 fetal macrosomia 9.8 LEP INS
39 abdominal obesity-metabolic syndrome quantitative trait locus 2 9.8 PPARG LEP INS ADIPOQ
40 maturity-onset diabetes of the young, type 1 9.8 PPARG LEP INS ADIPOQ
41 adult syndrome 9.8 PPARG LEP INS ADIPOQ
42 prediabetes syndrome 9.8 PPARG LEP INS ADIPOQ
43 abdominal obesity-metabolic syndrome 1 9.8 PPARG LEP INS ADIPOQ
44 fatty liver disease 9.8 PPARG LEP INS ADIPOQ
45 sleep apnea 9.8 PPARG LEP INS ADIPOQ
46 lipid storage disease 9.8 PPARG LEP INS ADIPOQ
47 familial hyperlipidemia 9.8 PPARG LEP INS ADIPOQ
48 gestational diabetes 9.8 PPARG LEP INS ADIPOQ
49 inherited metabolic disorder 9.8 PPARG LEP INS ADIPOQ
50 leptin deficiency or dysfunction 9.8 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 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 10.44 ADIPOQ AGPAT1 AGPAT2 AKT2 BSCL2 CAV1
2 behavior/neurological MP:0005386 10.43 ADIPOQ AGPAT1 AGPAT2 BSCL2 CAV1 CAVIN1
3 growth/size/body region MP:0005378 10.4 ADIPOQ AGPAT1 AGPAT2 AKT2 BSCL2 CAV1
4 homeostasis/metabolism MP:0005376 10.36 ADIPOQ AGPAT1 AGPAT2 AKT2 BSCL2 CAV1
5 endocrine/exocrine gland MP:0005379 10.32 ADIPOQ AGPAT1 AGPAT2 AKT2 BSCL2 CAV1
6 cardiovascular system MP:0005385 10.29 ADIPOQ AGPAT1 BSCL2 CAV1 CAVIN1 INS
7 cellular MP:0005384 10.28 ADIPOQ AGPAT1 AKT2 BSCL2 CAV1 CAVIN1
8 integument MP:0010771 10.28 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 CIDEC
9 liver/biliary system MP:0005370 10.25 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 CIDEC
10 hematopoietic system MP:0005397 10.22 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 CIDEC
11 mortality/aging MP:0010768 10.21 ADIPOQ AGPAT1 AGPAT2 AKT2 BSCL2 CAV1
12 digestive/alimentary MP:0005381 10.07 AGPAT2 BSCL2 CAV1 INS LEP LMNA
13 muscle MP:0005369 10.06 ADIPOQ AKT2 CAV1 CAVIN1 INS LEP
14 nervous system MP:0003631 10.03 ADIPOQ AGPAT1 AKT2 BSCL2 CAV1 CIDEC
15 renal/urinary system MP:0005367 9.85 ADIPOQ AGPAT2 BSCL2 CAV1 CAVIN1 INS
16 reproductive system MP:0005389 9.61 AGPAT1 AKT2 BSCL2 CAV1 INS LEP
17 skeleton MP:0005390 9.36 ADIPOQ AGPAT2 AKT2 BSCL2 CAV1 INS

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

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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 PPARG PLIN1 LEP INS GZMB AKT2
2
Show member pathways
12.73 LPIN1 GPAT4 GPAT3 AGPAT2 AGPAT1
3
Show member pathways
12.58 PPARG PLIN1 LPIN1 LEP GPAT4 GPAT3
4
Show member pathways
12.33 PPARG LEP INS AKT2 ADIPOQ
5
Show member pathways
12.31 LPIN1 GPAT4 GPAT3 AGPAT2 AGPAT1
6
Show member pathways
12.28 INS AKT2 AGPAT2 AGPAT1
7 12.05 PPARG PLIN1 LPIN1 INS BSCL2 AKT2
8
Show member pathways
12.03 GPAT4 GPAT3 AGPAT2 AGPAT1
9
Show member pathways
11.97 PPARG INS AKT2 ADIPOQ
10 11.68 PPARG LEP INS ADIPOQ
11 11.65 PPARG PLIN1 ADIPOQ
12 11.62 PPARG LPIN1 INS
13 11.58 LEP AKT2 ADIPOQ
14
Show member pathways
11.51 GPAT4 GPAT3 AGPAT2 AGPAT1
15 11.47 PLIN1 INS AKT2
16 11.44 LPIN1 GPAT4 GPAT3 AGPAT2 AGPAT1
17 11.44 ZMPSTE24 PPARG PLIN1 LPIN1 LMNA LEP
18 11.41 LEP INS CAV1
19 11.32 INS CAV1 AKT2
20 11.01 PPARG LEP ADIPOQ
21 10.97 PPARG LPIN1 LEP ADIPOQ

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 9.81 ZMPSTE24 TMEM159 LPIN1 GPAT4 GPAT3 CAV1
2 protein-containing complex GO:0032991 9.73 ZMPSTE24 PPARG CAVIN1 CAV1 AKT2 ADIPOQ
3 endoplasmic reticulum GO:0005783 9.4 ZMPSTE24 PLIN1 LPIN1 GPAT4 GPAT3 CIDEC
4 lipid droplet GO:0005811 9.35 TMEM159 PLIN1 CIDEC CAV1 BSCL2

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 response to nutrient GO:0007584 9.76 PPARG LEP ADIPOQ
2 glucose homeostasis GO:0042593 9.76 PPARG LEP INS ADIPOQ
3 response to nutrient levels GO:0031667 9.73 PPARG LEP ADIPOQ
4 glucose metabolic process GO:0006006 9.71 LEP INS AKT2 ADIPOQ
5 positive regulation of glucose import GO:0046326 9.67 INS AKT2 ADIPOQ
6 phospholipid biosynthetic process GO:0008654 9.67 GPAT4 GPAT3 AGPAT2 AGPAT1
7 lipid droplet organization GO:0034389 9.65 CIDEC BSCL2
8 positive regulation of cytokine production GO:0001819 9.65 LEP AGPAT2 AGPAT1
9 cellular response to insulin stimulus GO:0032869 9.65 PPARG LPIN1 LEP AKT2 ADIPOQ
10 positive regulation of cholesterol efflux GO:0010875 9.64 CAV1 ADIPOQ
11 nuclear envelope organization GO:0006998 9.64 ZMPSTE24 LMNA
12 negative regulation of gluconeogenesis GO:0045721 9.63 INS ADIPOQ
13 determination of adult lifespan GO:0008340 9.63 ZMPSTE24 LEP
14 negative regulation of lipid catabolic process GO:0050995 9.62 INS BSCL2
15 positive regulation of glycogen biosynthetic process GO:0045725 9.62 INS AKT2
16 phosphatidic acid biosynthetic process GO:0006654 9.62 GPAT4 GPAT3 AGPAT2 AGPAT1
17 positive regulation of cellular protein metabolic process GO:0032270 9.61 INS ADIPOQ
18 fatty acid oxidation GO:0019395 9.61 PPARG ADIPOQ
19 triglyceride biosynthetic process GO:0019432 9.61 LPIN1 GPAT4 GPAT3
20 fatty acid catabolic process GO:0009062 9.6 LPIN1 LEP
21 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.59 PPARG ADIPOQ
22 positive regulation of cytokine-mediated signaling pathway GO:0001961 9.58 AGPAT2 AGPAT1
23 regulation of protein localization to nucleus GO:1900180 9.57 LMNA LEP
24 lipid droplet formation GO:0140042 9.55 TMEM159 BSCL2
25 positive regulation of cold-induced thermogenesis GO:0120162 9.55 LPIN1 LEP CAV1 BSCL2 ADIPOQ
26 negative regulation of acute inflammatory response GO:0002674 9.54 PPARG INS
27 cellular response to hyperoxia GO:0071455 9.52 PPARG CAV1
28 positive regulation of fatty acid metabolic process GO:0045923 9.51 PPARG ADIPOQ
29 lipid metabolic process GO:0006629 9.28 PPARG PLIN1 LPIN1 LEP GPAT4 GPAT3
30 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 transferase activity, transferring acyl groups GO:0016746 9.56 GPAT4 GPAT3 AGPAT2 AGPAT1
2 hormone activity GO:0005179 9.5 LEP INS ADIPOQ
3 sn-1-glycerol-3-phosphate C16:0-DCA-CoA acyl transferase activity GO:0102420 9.16 GPAT4 GPAT3
4 glycerol-3-phosphate O-acyltransferase activity GO:0004366 8.96 GPAT4 GPAT3
5 1-acylglycerol-3-phosphate O-acyltransferase activity GO:0003841 8.92 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
Content
Loading form....