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, Seipin Lipid Droplet Biogenesis Associated), and among its related pathways/superpathways are Cytoskeletal Signaling and AMP-activated Protein Kinase (AMPK) Signaling. Affiliated tissues include liver and pancreas, 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 53)
# Related Disease Score Top Affiliating Genes
1 acquired generalized lipodystrophy 29.9 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
2 spastic paraplegia 17, autosomal dominant 10.2 AGPAT2 BSCL2
3 adiposis dolorosa 10.1 AGPAT2 ZMPSTE24
4 mandibuloacral dysplasia with type a lipodystrophy 10.1 LMNA ZMPSTE24
5 restrictive dermopathy, lethal 10.1 LMNA ZMPSTE24
6 acroosteolysis 10.1 LMNA ZMPSTE24
7 ovarian cystadenoma 10.1 LMNA ZMPSTE24
8 reynolds syndrome 10.1 LMNA ZMPSTE24
9 hallermann-streiff syndrome 10.0 LMNA ZMPSTE24
10 autosomal dominant limb-girdle muscular dystrophy 10.0 CAV1 LMNA
11 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.0 INS LEP
12 pigmentation disease 10.0 AGPAT2 INS
13 nonalcoholic steatohepatitis 9.9 INS LEP
14 fatty liver disease, nonalcoholic 1 9.9 INS LEP
15 fetal macrosomia 9.9 INS LEP
16 maturity-onset diabetes of the young, type 10 9.9 INS PPARG
17 apnea, obstructive sleep 9.9 INS LEP
18 endocrine pancreas disease 9.9 INS LEP
19 monogenic diabetes 9.9 BSCL2 INS
20 pancreas disease 9.9 INS LEP
21 idiopathic edema 9.9 INS PPARG
22 alstrom syndrome 9.9 INS LEP
23 sleep disorder 9.9 INS LEP
24 lipodystrophy, familial partial, type 3 9.8 AGPAT2 BSCL2 LMNA PPARG
25 lipodystrophy, congenital generalized, type 3 9.8 AGPAT2 BSCL2 CAV1 CAVIN1
26 anovulation 9.8 INS LEP
27 berardinelli-seip congenital lipodystrophy 9.8 AGPAT2 BSCL2 CAV1 LEP
28 hutchinson-gilford progeria syndrome 9.8 LMNA ZMPSTE24
29 abdominal obesity-metabolic syndrome 1 9.8 INS LEP PPARG
30 prediabetes syndrome 9.8 INS LEP PPARG
31 3-hydroxyacyl-coa dehydrogenase deficiency 9.8 INS LEP PPARG
32 diabetic neuropathy 9.8 INS LEP
33 overnutrition 9.8 INS LEP PPARG
34 arteries, anomalies of 9.8 INS LEP PPARG
35 lipid metabolism disorder 9.8 INS LEP PPARG
36 glucose metabolism disease 9.8 INS LEP PPARG
37 morbid obesity 9.8 INS LEP PPARG
38 acquired metabolic disease 9.8 INS LEP PPARG
39 glucose intolerance 9.8 INS LEP PPARG
40 nonalcoholic fatty liver disease 9.8 INS LEP PPARG
41 hyperglycemia 9.8 INS LEP PPARG
42 maturity-onset diabetes of the young, type 1 9.8 INS LEP PPARG
43 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.7 AGPAT2 BSCL2 INS LMNA
44 lipodystrophy, congenital generalized, type 2 9.7 AGPAT2 BSCL2 CAVIN1 LMNA PPARG
45 lipodystrophy, familial partial, type 2 9.7 AGPAT2 INS LEP LMNA
46 lipodystrophy, congenital generalized, type 4 9.7 AGPAT2 BSCL2 CAV1 CAVIN1 LMNA
47 lipodystrophy, familial partial, type 1 9.6 INS LEP LMNA PPARG
48 acanthosis nigricans 9.6 INS LEP LMNA PPARG
49 body mass index quantitative trait locus 11 9.6 INS LEP LMNA PPARG
50 diabetes mellitus, noninsulin-dependent 9.6 INS LEP LMNA PPARG

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:

46 (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:

41
Liver, Pancreas

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 17)
# 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 glucose metabolic process GO:0006006 9.57 INS LEP
4 placenta development GO:0001890 9.56 LEP PPARG
5 nucleus organization GO:0006997 9.55 LMNA ZMPSTE24
6 positive regulation of cytokine production GO:0001819 9.54 AGPAT2 LEP
7 lipid storage GO:0019915 9.52 BSCL2 CAV1
8 regulation of nitric-oxide synthase activity GO:0050999 9.51 CAV1 LEP
9 glucose homeostasis GO:0042593 9.5 INS LEP PPARG
10 nuclear envelope organization GO:0006998 9.48 LMNA ZMPSTE24
11 negative regulation of lipid catabolic process GO:0050995 9.46 BSCL2 INS
12 positive regulation of insulin receptor signaling pathway GO:0046628 9.43 INS LEP
13 positive regulation of cold-induced thermogenesis GO:0120162 9.43 BSCL2 CAV1 LEP
14 regulation of fat cell differentiation GO:0045598 9.4 LEP PPARG
15 cellular response to hyperoxia GO:0071455 9.16 CAV1 PPARG
16 negative regulation of acute inflammatory response GO:0002674 8.96 INS PPARG
17 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....