TGCV
MCID: TRG022
MIFTS: 20

Triglyceride Deposit Cardiomyovasculopathy (TGCV)

Categories: Cardiovascular diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Triglyceride Deposit Cardiomyovasculopathy

MalaCards integrated aliases for Triglyceride Deposit Cardiomyovasculopathy:

Name: Triglyceride Deposit Cardiomyovasculopathy 58
Neutral Lipid Storage Disease with Severe Cardiovascular Involvement 58
Tgcv 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Orphanet 58 ORPHA565612

Summaries for Triglyceride Deposit Cardiomyovasculopathy

MalaCards based summary : Triglyceride Deposit Cardiomyovasculopathy, also known as neutral lipid storage disease with severe cardiovascular involvement, is related to lipid storage disease and myopathy. An important gene associated with Triglyceride Deposit Cardiomyovasculopathy is PNPLA2 (Patatin Like Phospholipase Domain Containing 2), and among its related pathways/superpathways are Glucose / Energy Metabolism and AMP-activated Protein Kinase (AMPK) Signaling. Affiliated tissues include heart, skin and endothelial.

Related Diseases for Triglyceride Deposit Cardiomyovasculopathy

Diseases related to Triglyceride Deposit Cardiomyovasculopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 lipid storage disease 30.1 PPARG PNPLA2
2 myopathy 10.5
3 neutral lipid storage disease with myopathy 10.4
4 congestive heart failure 10.4
5 arteries, anomalies of 10.3
6 hyperlipoproteinemia, type iii 10.3
7 lipoprotein quantitative trait locus 10.3
8 platelet glycoprotein iv deficiency 9.6 PPARG PNPLA2
9 overnutrition 9.5 PPARG PNPLA2
10 lysosomal storage disease 9.5 PPARG PNPLA2
11 body mass index quantitative trait locus 11 9.4 PPARG PNPLA2
12 dilated cardiomyopathy 9.2 PPARG PNPLA2

Graphical network of the top 20 diseases related to Triglyceride Deposit Cardiomyovasculopathy:



Diseases related to Triglyceride Deposit Cardiomyovasculopathy

Symptoms & Phenotypes for Triglyceride Deposit Cardiomyovasculopathy

Drugs & Therapeutics for Triglyceride Deposit Cardiomyovasculopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I/IIa Study of CNT-01 in Patients With Idiopathic Triglyceride Deposit Completed NCT02502578 Phase 1, Phase 2 CNT-01 500 mg capsule
2 International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases Recruiting NCT02918032
3 Clinical Study on the Safety and Efficacy of Medium-chain Fatty Acid Capsules (CNT-02) for Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Neutral Lipid Storage Disease With Myopathy (NLSD-M) Terminated NCT02830763

Search NIH Clinical Center for Triglyceride Deposit Cardiomyovasculopathy

Genetic Tests for Triglyceride Deposit Cardiomyovasculopathy

Anatomical Context for Triglyceride Deposit Cardiomyovasculopathy

MalaCards organs/tissues related to Triglyceride Deposit Cardiomyovasculopathy:

40
Heart, Skin, Endothelial

Publications for Triglyceride Deposit Cardiomyovasculopathy

Articles related to Triglyceride Deposit Cardiomyovasculopathy:

(show all 21)
# Title Authors PMID Year
1
Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review. 61
32564019 2020
2
A historical case of primary triglyceride deposit cardiomyovasculopathy. 61
31854040 2020
3
Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder. 61
31186072 2019
4
Intractable Coronary Artery Disease in a Patient With Type 2 Diabetes Presenting With Triglyceride Deposit Cardiomyovasculopathy. 61
30862655 2019
5
Tricaprin Rescues Myocardial Abnormality in a Mouse Model of Triglyceride Deposit Cardiomyovasculopathy. 61
30012901 2018
6
Newly developed selective immunoinactivation assay revealed reduction in adipose triglyceride lipase activity in peripheral leucocytes from patients with idiopathic triglyceride deposit cardiomyovasculopathy. 61
29146190 2018
7
Impact of diabetes mellitus on myocardial lipid deposition: an autopsy study. 61
24836730 2014
8
Dependence of bronchoconstrictor and bronchodilator responses on thoracic gas compression volume. 61
25039769 2014
9
A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review. 61
24836204 2014
10
Coronary triglyceride deposition in contemporary advanced diabetics. 61
25047503 2014
11
Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy. 61
27896096 2014
12
Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy. 61
24332944 2014
13
Quantitative proteomic analysis of cultured skin fibroblast cells derived from patients with triglyceride deposit cardiomyovasculopathy. 61
24360150 2013
14
[Triglyceride deposit cardiomyovasculopathy]. 61
24205734 2013
15
Downregulation of adipose triglyceride lipase in the heart aggravates diabetic cardiomyopathy in db/db mice. 61
23886955 2013
16
Reduced expression of adipose triglyceride lipase enhances tumor necrosis factor alpha-induced intercellular adhesion molecule-1 expression in human aortic endothelial cells via protein kinase C-dependent activation of nuclear factor-kappaB. 61
21828047 2011
17
A novel clinical entity: triglyceride deposit cardiomyovasculopathy. 61
19729869 2009
18
Triglyceride deposit cardiomyovasculopathy. 61
19038890 2008
19
Synthesis and fluorescent properties of 6-(4-biphenylyl)-3,9-dihydro-9-oxo-5H-imidazo[1,2-a]purine analogues of acyclovir and ganciclovir. 61
14565309 2003
20
Synthesis and biological activity of strongly fluorescent tricyclic analogues of acyclovir and ganciclovir. 61
12408716 2002
21
Fluorescent tricyclic analogues of acyclovir and ganciclovir. A structure-antiviral activity study. 61
11708929 2001

Variations for Triglyceride Deposit Cardiomyovasculopathy

Expression for Triglyceride Deposit Cardiomyovasculopathy

Search GEO for disease gene expression data for Triglyceride Deposit Cardiomyovasculopathy.

Pathways for Triglyceride Deposit Cardiomyovasculopathy

Pathways related to Triglyceride Deposit Cardiomyovasculopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.45 PPARG PNPLA2
2
Show member pathways
11.08 PPARG PNPLA2

GO Terms for Triglyceride Deposit Cardiomyovasculopathy

Biological processes related to Triglyceride Deposit Cardiomyovasculopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.16 PPARG PNPLA2
2 lipid homeostasis GO:0055088 8.96 PPARG PNPLA2
3 negative regulation of sequestering of triglyceride GO:0010891 8.62 PPARG PNPLA2

Sources for Triglyceride Deposit Cardiomyovasculopathy

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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