MCID: CMP096
MIFTS: 20

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 Glucose / Energy Metabolism. 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 all 40)
# Related Disease Score Top Affiliating Genes
1 acquired generalized lipodystrophy 28.1 ZMPSTE24 LMNA LEP INS CAVIN1 CAV1
2 spastic paraplegia 17, autosomal dominant 10.4 BSCL2 AGPAT2
3 adiposis dolorosa 10.3 ZMPSTE24 AGPAT2
4 mandibuloacral dysplasia with type a lipodystrophy 10.2 ZMPSTE24 LMNA
5 restrictive dermopathy, lethal 10.2 ZMPSTE24 LMNA
6 ovarian cystadenoma 10.1 ZMPSTE24 LMNA
7 acroosteolysis 10.1 ZMPSTE24 LMNA
8 reynolds syndrome 10.1 ZMPSTE24 LMNA
9 hallermann-streiff syndrome 10.1 ZMPSTE24 LMNA
10 lipodystrophy, familial partial, type 3 10.0 LMNA BSCL2 AGPAT2
11 autosomal dominant limb-girdle muscular dystrophy 10.0 LMNA CAV1
12 abdominal obesity-metabolic syndrome quantitative trait locus 2 9.9 LEP INS
13 abdominal obesity-metabolic syndrome 1 9.9 LEP INS
14 fatty liver disease, nonalcoholic 1 9.9 LEP INS
15 monogenic diabetes 9.9 INS BSCL2
16 fetal macrosomia 9.9 LEP INS
17 prediabetes syndrome 9.8 LEP INS
18 endocrine pancreas disease 9.8 LEP INS
19 hutchinson-gilford progeria syndrome 9.8 ZMPSTE24 LMNA
20 pancreas disease 9.8 LEP INS
21 apnea, obstructive sleep 9.8 LEP INS
22 alstrom syndrome 9.8 LEP INS
23 sleep disorder 9.7 LEP INS
24 anovulation 9.7 LEP INS
25 pigmentation disease 9.7 INS BSCL2 AGPAT2
26 3-hydroxyacyl-coa dehydrogenase deficiency 9.7 LEP INS
27 diabetic neuropathy 9.6 LEP INS
28 lipodystrophy, congenital generalized, type 3 9.5 CAVIN1 CAV1 BSCL2 AGPAT2
29 berardinelli-seip congenital lipodystrophy 9.5 LEP CAV1 BSCL2 AGPAT2
30 lipodystrophy, familial partial, type 1 9.5 LMNA LEP INS
31 acanthosis nigricans 9.5 LMNA LEP INS
32 inherited metabolic disorder 9.5 LEP INS
33 sleep apnea 9.3 LEP INS
34 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.3 LMNA INS BSCL2 AGPAT2
35 lipodystrophy, congenital generalized, type 2 9.2 LMNA CTSG CAVIN1 BSCL2 AGPAT2
36 lipodystrophy, familial partial, type 2 9.2 LMNA LEP INS AGPAT2
37 lipodystrophy, congenital generalized, type 4 9.1 LMNA CAVIN1 CAV1 BSCL2 AGPAT2
38 familial partial lipodystrophy 8.6 LMNA LEP INS CAVIN1 BSCL2 AGPAT2
39 lipodystrophy, congenital generalized, type 1 8.4 ZMPSTE24 LMNA LEP INS BSCL2 AGPAT2
40 congenital generalized lipodystrophy 8.3 ZMPSTE24 LMNA LEP CAVIN1 CAV1 BSCL2

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 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.15 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
2 adipose tissue MP:0005375 10.1 AGPAT2 BSCL2 CAV1 INS LEP LMNA
3 cardiovascular system MP:0005385 10.08 BSCL2 CAV1 CAVIN1 INS LEP LMNA
4 growth/size/body region MP:0005378 10.08 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
5 cellular MP:0005384 10.07 BSCL2 CAV1 CAVIN1 INS LEP LMNA
6 hematopoietic system MP:0005397 10.06 AGPAT2 BSCL2 CAV1 CTSG INS LEP
7 digestive/alimentary MP:0005381 10.05 AGPAT2 BSCL2 CAV1 INS LEP LMNA
8 endocrine/exocrine gland MP:0005379 10.04 AGPAT2 BSCL2 CAV1 INS LEP LMNA
9 homeostasis/metabolism MP:0005376 10.03 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
10 immune system MP:0005387 10.01 AGPAT2 BSCL2 CAV1 CTSG INS LEP
11 liver/biliary system MP:0005370 9.92 AGPAT2 BSCL2 CAV1 CTSG INS LEP
12 integument MP:0010771 9.91 AGPAT2 BSCL2 CAV1 INS LEP LMNA
13 mortality/aging MP:0010768 9.91 AGPAT2 BSCL2 CAV1 CAVIN1 CTSG INS
14 muscle MP:0005369 9.63 CAV1 CAVIN1 INS LEP LMNA ZMPSTE24
15 renal/urinary system MP:0005367 9.56 AGPAT2 BSCL2 CAV1 CAVIN1 INS LEP
16 skeleton MP:0005390 9.17 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

Publications for Complete Generalized Lipodystrophy

Articles related to Complete Generalized Lipodystrophy:

# Title Authors PMID Year
1
Cardiomyopathy in congenital complete lipodystrophy. 38
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:

# Super pathways Score Top Affiliating Genes
1 12.03 LMNA CAVIN1 CAV1
2 11.99 INS BSCL2 AGPAT2
3
Show member pathways
11.59 LEP INS CTSG
4 11.22 ZMPSTE24 LMNA LEP INS BSCL2 AGPAT2
5 10.89 INS CAV1
6 10.83 LEP INS CAV1

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 9.26 ZMPSTE24 CAV1 BSCL2 AGPAT2
2 endoplasmic reticulum GO:0005783 9.02 ZMPSTE24 CAVIN1 CAV1 BSCL2 AGPAT2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 glucose metabolic process GO:0006006 9.49 LEP INS
2 nucleus organization GO:0006997 9.48 ZMPSTE24 LMNA
3 positive regulation of cytokine production GO:0001819 9.46 LEP AGPAT2
4 positive regulation of gene expression GO:0010628 9.46 ZMPSTE24 LMNA INS CAV1
5 lipid storage GO:0019915 9.43 CAV1 BSCL2
6 regulation of nitric-oxide synthase activity GO:0050999 9.4 LEP CAV1
7 nuclear envelope organization GO:0006998 9.37 ZMPSTE24 LMNA
8 positive regulation of insulin receptor signaling pathway GO:0046628 9.32 LEP INS
9 negative regulation of lipid catabolic process GO:0050995 9.26 INS BSCL2
10 positive regulation of cold-induced thermogenesis GO:0120162 9.13 LEP CAV1 BSCL2
11 regulation of protein localization to nucleus GO:1900180 8.62 LMNA LEP

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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