MCID: KSH001
MIFTS: 37

Keshan Disease

Categories: Cardiovascular diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Keshan Disease

MalaCards integrated aliases for Keshan Disease:

Name: Keshan Disease 12 53 15 73
Caused by Deficiency of Selenium in the Diet 53
Enlarged Heart and Poor Heart Function 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0050083
UMLS 73 C0268095

Summaries for Keshan Disease

Disease Ontology : 12 A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency.

MalaCards based summary : Keshan Disease, also known as caused by deficiency of selenium in the diet, is related to dilated cardiomyopathy and cystic fibrosis. An important gene associated with Keshan Disease is GPX1 (Glutathione Peroxidase 1), and among its related pathways/superpathways are Immune response NFAT in immune response and Th17 cell differentiation. Affiliated tissues include heart, liver and pancreatic islet, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 Keshan disease is a congestive cardiomyopathy caused by a combination of dietary deficiency of selenium... more...

Related Diseases for Keshan Disease

Diseases related to Keshan Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dilated cardiomyopathy 10.2
2 cystic fibrosis 10.2
3 kashin-beck disease 10.0
4 heart disease 10.0
5 myocarditis 10.0
6 viral infectious disease 10.0
7 hirata disease 9.8 HLA-DOA HLA-DQA1

Graphical network of the top 20 diseases related to Keshan Disease:



Diseases related to Keshan Disease

Symptoms & Phenotypes for Keshan Disease

GenomeRNAi Phenotypes related to Keshan Disease according to GeneCards Suite gene sharing:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.77 BMP7 GPX1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.77 GPX1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.77 BMP7
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.77 SCN5A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.77 GPX1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.77 SCN5A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.77 GPX1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.77 BMP7 SCN5A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.77 SCN5A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.77 GPX1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.77 BMP7
12 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.77 GPX1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.77 BMP7 GPX1 SCN5A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.77 SCN5A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.77 SCN5A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.77 SCN5A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.77 SCN5A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.77 SCN5A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.77 BMP7
20 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.77 BMP7
21 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.77 BMP7
22 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.77 GPX1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.77 BMP7
24 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.77 BMP7

MGI Mouse Phenotypes related to Keshan Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.1 BMP5 BMP7 GPX1 HLA-DOA HLA-DQA1 TNFSF15

Drugs & Therapeutics for Keshan Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 IPS Differentiated Cardiomyocytes Vein Transplantation for Chronic Heart Failure Not yet recruiting NCT03759405 Phase 2, Phase 3

Search NIH Clinical Center for Keshan Disease

Genetic Tests for Keshan Disease

Anatomical Context for Keshan Disease

MalaCards organs/tissues related to Keshan Disease:

41
Heart, Liver, Pancreatic Islet

Publications for Keshan Disease

Articles related to Keshan Disease:

(show top 50) (show all 66)
# Title Authors Year
1
A spatial ecological study of selenoprotein P and Keshan disease. ( 30466925 )
2019
2
Prediction of co-expression genes and integrative analysis of gene microarray and proteomics profile of Keshan disease. ( 29321553 )
2018
3
Prevention of Keshan Disease by Selenium Supplementation: a Systematic Review and Meta-analysis. ( 29627894 )
2018
4
A Spatial Ecology Study of Keshan Disease and Hair Selenium. ( 30167961 )
2018
5
Associations Between Selenium Content in Hair and Kashin-Beck Disease/Keshan Disease in Children in Northwestern China: a Prospective Cohort Study. ( 28983831 )
2017
6
Network Analysis of Se-and Zn-related Proteins in the Serum Proteomics Expression Profile of the Endemic Dilated Cardiomyopathy Keshan Disease. ( 28819918 )
2017
7
Serum quantitative proteomic analysis of patients with keshan disease based on iTRAQ labeling technique: A first term study. ( 28965596 )
2017
8
Preliminary quantitative proteomics analysis in chronic and latent Keshan disease by iTRAQ labeling approach. ( 29285290 )
2017
9
Roles of Glycoproteins in the Diagnosis and Differential Diagnosis of Chronic and Latent Keshan Disease. ( 28481304 )
2017
10
Metabolism of arachidonic acid by the cytochrome P450 enzyme in patients with chronic Keshan disease and dilated cardiomyopathy. ( 26893848 )
2016
11
An approach to assessment of Keshan disease elimination at the township level. ( 27821502 )
2016
12
Long-term prognostic value of major and minor ECG abnormalities in latent Keshan disease with suspect chronic Keshan disease. ( 24975014 )
2014
13
Keshan disease, selenium deficiency, and the selenoproteome. ( 24785212 )
2014
14
TLR2-ICAM1-Gadd45I+ axis mediates the epigenetic effect of selenium on DNA methylation and gene expression in Keshan disease. ( 24811888 )
2014
15
Serum biomarkers of Keshan disease assessed using a protein profiling approach based on ClinProt technique. ( 24841853 )
2014
16
H558R polymorphism in SCN5A is associated with Keshan disease and QRS prolongation in Keshan disease patients. ( 25177937 )
2014
17
Oxidative stress is involved in the pathogenesis of Keshan disease (an endemic dilated cardiomyopathy) in China. ( 24062877 )
2013
18
The prevalence of Keshan disease in China. ( 23218571 )
2013
19
An original discovery: selenium deficiency and Keshan disease (an endemic heart disease). ( 22705420 )
2012
20
Suboptimal selenium supply--a continuing problem in Keshan disease areas in Heilongjiang province. ( 21253891 )
2011
21
Analysis of glutathione peroxidase 1 gene polymorphism and Keshan disease in Heilongjiang Province, China. ( 22180033 )
2011
22
The effect of DHEA treatment on the oxidative stress and myocardial fibrosis induced by Keshan disease pathogenic factors. ( 21602037 )
2011
23
Is selenium deficiency really the cause of Keshan disease? ( 20574681 )
2011
24
Selenium level surveillance for the year 2007 of Keshan disease in endemic areas and analysis on surveillance results between 2003 and 2007. ( 20180046 )
2010
25
[Polymorphisms in the glutathione peroxidase-1 gene associated with increased risk of Keshan disease]. ( 21055077 )
2010
26
Chronic exposure to cereal mycotoxin likely citreoviridin may be a trigger for Keshan disease mainly through oxidative stress mechanism. ( 20034747 )
2010
27
Circulating adhesion molecules in patients with Keshan disease and their relationship with Coxsackie B virus infection. ( 19399399 )
2009
28
[The study on relation of HLA-DRB1 gene polymorphism to Keshan disease and its association and linkage in the core families]. ( 17285554 )
2007
29
Keshan disease and mitochondrial cardiomyopathy. ( 17312989 )
2006
30
Coxsackievirus B3 infection and its mutation in Keshan disease. ( 15484304 )
2004
31
Selenite inhibition of Coxsackie virus B5 replication: implications on the etiology of Keshan disease. ( 11878751 )
2002
32
Fulminant heart failure due to selenium deficiency cardiomyopathy (Keshan disease). ( 11848134 )
2002
33
HIV-associated cardiomyopathy is not Keshan disease. ( 12042392 )
2002
34
Multifocal myocardial necrosis: a distinctive cardiac lesion in cystic fibrosis, lipomatous pancreatic atrophy, and Keshan disease. ( 12056507 )
2002
35
[Effect of methionine supplementation on the selenium bioavailability in rats fed on grains from Keshan disease endemic area]. ( 11255767 )
2001
36
High prevalence of enteroviral genomic sequences in myocardium from cases of endemic cardiomyopathy (Keshan disease) in China. ( 10814633 )
2000
37
Alterations in rat pancreatic islet beta cells induced by Keshan disease pathogenic factors: protective action of selenium and vitamin E. ( 9550538 )
1998
38
[Morphological studies of myocardial fibrosis in different types of Keshan disease]. ( 11244934 )
1998
39
Further investigation on the role of selenium deficiency in the aetiology and pathogenesis of Keshan disease. ( 9315325 )
1997
40
Interacting nutritional and infectious etiologies of Keshan disease. Insights from coxsackie virus B-induced myocarditis in mice deficient in selenium or vitamin E. ( 9152508 )
1997
41
A survey of moniliformin contamination in rice and corn from Keshan disease endemic and non-KSD areas in China. ( 8719174 )
1995
42
Antioxidant status, erythrocyte fatty acids, and mortality from cardiovascular disease and Keshan disease in China. ( 7956986 )
1994
43
Effects of selenium and alpha-tocopherol on liver damage induced by feeding grains from an endemic area of Keshan disease in rats. ( 7969093 )
1994
44
Vitamin E requirement of rats fed on a diet containing grains from the endemic region of Keshan disease. ( 8397903 )
1993
45
Damage to hepatic thyroxine 5'-deiodination induced by pathogenic factors of Keshan disease and the preventive effects of selenium and vitamin E. ( 1781930 )
1991
46
The effect of selenium-fortified table salt in the prevention of Keshan disease on a population of 1.05 million. ( 2096847 )
1990
47
Common denominators in the etiology and pathology of visceral lesions of cystic fibrosis and Keshan disease. ( 1702672 )
1990
48
Increased sarcolemmal membrane permeability of cardiac muscle cells in rats fed grains cultivated in a Keshan disease endemic area: a study with horseradish peroxidase as a tracer. ( 2721651 )
1989
49
Keshan disease: an entity or not. ( 3402979 )
1988
50
Keshan disease--an endemic mitochondrial cardiomyopathy in China. ( 2908794 )
1988

Variations for Keshan Disease

Expression for Keshan Disease

Search GEO for disease gene expression data for Keshan Disease.

Pathways for Keshan Disease

Pathways related to Keshan Disease according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 HLA-DOA HLA-DQA1 HLA-DRA
2
Show member pathways
12.28 HLA-DOA HLA-DQA1 HLA-DRA
3 12.14 HLA-DOA HLA-DQA1 HLA-DRA
4
Show member pathways
12.1 HLA-DOA HLA-DQA1 HLA-DRA
5 12.02 HLA-DOA HLA-DQA1 HLA-DRA
6
Show member pathways
11.97 HLA-DOA HLA-DQA1 HLA-DRA
7 11.89 HLA-DOA HLA-DQA1 HLA-DRA
8 11.79 HLA-DOA HLA-DQA1 HLA-DRA
9 11.7 HLA-DOA HLA-DQA1 HLA-DRA
10
Show member pathways
11.65 HLA-DOA HLA-DQA1 HLA-DRA
11 11.56 HLA-DOA HLA-DQA1 HLA-DRA
12 11.51 HLA-DOA HLA-DQA1 HLA-DRA
13 11.42 HLA-DOA HLA-DQA1 HLA-DRA
14 11.34 HLA-DRA TNFSF15
15 11.29 HLA-DOA HLA-DQA1 HLA-DRA
16 11.26 HLA-DOA HLA-DQA1 HLA-DRA
17 10.98 HLA-DOA HLA-DQA1 HLA-DRA
18 10.84 BMP5 BMP7
19 10.55 HLA-DOA HLA-DQA1 HLA-DRA

GO Terms for Keshan Disease

Cellular components related to Keshan Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.58 HLA-DOA HLA-DQA1 HLA-DRA
2 lysosomal membrane GO:0005765 9.5 HLA-DOA HLA-DQA1 HLA-DRA
3 endocytic vesicle membrane GO:0030666 9.46 HLA-DQA1 HLA-DRA
4 ER to Golgi transport vesicle membrane GO:0012507 9.43 HLA-DQA1 HLA-DRA
5 transport vesicle membrane GO:0030658 9.37 HLA-DQA1 HLA-DRA
6 endosome membrane GO:0010008 9.33 HLA-DOA HLA-DQA1 HLA-DRA
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.26 HLA-DQA1 HLA-DRA
8 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.96 HLA-DQA1 HLA-DRA
9 MHC class II protein complex GO:0042613 8.8 HLA-DOA HLA-DQA1 HLA-DRA

Biological processes related to Keshan Disease according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.81 HLA-DOA HLA-DQA1 HLA-DRA TNFSF15
2 regulation of signaling receptor activity GO:0010469 9.8 BMP5 BMP7 TNFSF15
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.63 HLA-DOA HLA-DQA1 HLA-DRA
4 cartilage development GO:0051216 9.62 BMP5 BMP7
5 interferon-gamma-mediated signaling pathway GO:0060333 9.62 HLA-DQA1 HLA-DRA
6 pattern specification process GO:0007389 9.61 BMP5 BMP7
7 positive regulation of epithelial cell proliferation GO:0050679 9.61 BMP5 SCN5A
8 cell development GO:0048468 9.6 BMP5 BMP7
9 regulation of MAPK cascade GO:0043408 9.59 BMP5 BMP7
10 SMAD protein signal transduction GO:0060395 9.58 BMP5 BMP7
11 odontogenesis of dentin-containing tooth GO:0042475 9.58 BMP7 SCN5A
12 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.57 BMP5 BMP7
13 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.56 BMP5 GPX1
14 hindbrain development GO:0030902 9.55 BMP5 BMP7
15 cardiac muscle tissue development GO:0048738 9.54 BMP5 BMP7
16 pharyngeal system development GO:0060037 9.52 BMP5 BMP7
17 cardiac septum morphogenesis GO:0060411 9.49 BMP5 BMP7
18 positive regulation of dendrite development GO:1900006 9.48 BMP5 BMP7
19 heart trabecula morphogenesis GO:0061384 9.43 BMP5 BMP7
20 pericardium morphogenesis GO:0003344 9.4 BMP5 BMP7
21 chorio-allantoic fusion GO:0060710 9.37 BMP5 BMP7
22 antigen processing and presentation GO:0019882 9.33 HLA-DOA HLA-DQA1 HLA-DRA
23 endocardial cushion formation GO:0003272 9.32 BMP5 BMP7
24 neural fold elevation formation GO:0021502 9.26 BMP5 BMP7
25 allantois development GO:1905069 8.96 BMP5 BMP7
26 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 8.8 HLA-DOA HLA-DQA1 HLA-DRA

Molecular functions related to Keshan Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.43 BMP5 BMP7 TNFSF15
2 transforming growth factor beta receptor binding GO:0005160 9.37 BMP5 BMP7
3 peptide antigen binding GO:0042605 9.32 HLA-DQA1 HLA-DRA
4 MHC class II protein complex binding GO:0023026 9.16 HLA-DOA HLA-DRA
5 BMP receptor binding GO:0070700 8.96 BMP5 BMP7
6 MHC class II receptor activity GO:0032395 8.8 HLA-DOA HLA-DQA1 HLA-DRA

Sources for Keshan Disease

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
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