MCID: KSH001
MIFTS: 33

Keshan Disease

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Keshan Disease

MalaCards integrated aliases for Keshan Disease:

Name: Keshan Disease 12 49 14 69
Caused by Deficiency of Selenium in the Diet 49
Enlarged Heart and Poor Heart Function 49

Classifications:



External Ids:

Disease Ontology 12 DOID:0050083
UMLS 69 C0268095

Summaries for Keshan Disease

MalaCards based summary : Keshan Disease, also known as caused by deficiency of selenium in the diet, is related to fibrosis of extraocular muscles, congenital, 1 and dilated cardiomyopathy. 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, pancreatic islet and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 72 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 fibrosis of extraocular muscles, congenital, 1 10.1
2 dilated cardiomyopathy 10.1
3 pancreatitis 10.1
4 cystic fibrosis 10.0
5 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
6 kashin-beck disease 9.8
7 hepatitis 9.8
8 heart disease 9.8
9 myocarditis 9.8

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:

25 (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 SCN5A BMP7 GPX1
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:

43
# 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

Search Clinical Trials , NIH Clinical Center for Keshan Disease

Genetic Tests for Keshan Disease

Anatomical Context for Keshan Disease

MalaCards organs/tissues related to Keshan Disease:

38
Heart, Pancreatic Islet, Liver

Publications for Keshan Disease

Articles related to Keshan Disease:

(show top 50) (show all 62)
# Title Authors Year
1
Prediction of co-expression genes and integrative analysis of gene microarray and proteomics profile of Keshan disease. ( 29321553 )
2018
2
Serum quantitative proteomic analysis of patients with keshan disease based on iTRAQ labeling technique: A first term study. ( 28965596 )
2017
3
Preliminary quantitative proteomics analysis in chronic and latent Keshan disease by iTRAQ labeling approach. ( 29285290 )
2017
4
Associations Between Selenium Content in Hair and Kashin-Beck Disease/Keshan Disease in Children in Northwestern China: a Prospective Cohort Study. ( 28983831 )
2017
5
Network Analysis of Se-and Zn-related Proteins in the Serum Proteomics Expression Profile of the Endemic Dilated Cardiomyopathy Keshan Disease. ( 28819918 )
2017
6
Roles of Glycoproteins in the Diagnosis and Differential Diagnosis of Chronic and Latent Keshan Disease. ( 28481304 )
2017
7
An approach to assessment of Keshan disease elimination at the township level. ( 27821502 )
2016
8
Metabolism of arachidonic acid by the cytochrome P450 enzyme in patients with chronic Keshan disease and dilated cardiomyopathy. ( 26893848 )
2016
9
Long-term prognostic value of major and minor ECG abnormalities in latent Keshan disease with suspect chronic Keshan disease. ( 24975014 )
2014
10
H558R polymorphism in SCN5A is associated with Keshan disease and QRS prolongation in Keshan disease patients. ( 25177937 )
2014
11
Keshan disease, selenium deficiency, and the selenoproteome. ( 24785212 )
2014
12
TLR2-ICAM1-Gadd45I+ axis mediates the epigenetic effect of selenium on DNA methylation and gene expression in Keshan disease. ( 24811888 )
2014
13
Genome-wide study reveals an important role of spontaneous autoimmunity, cardiomyocyte differentiation defect and anti-angiogenic activities in gender-specific gene expression in Keshan disease. ( 24384427 )
2014
14
Serum biomarkers of Keshan disease assessed using a protein profiling approach based on ClinProt technique. ( 24841853 )
2014
15
The prevalence of Keshan disease in China. ( 23218571 )
2013
16
Oxidative stress is involved in the pathogenesis of Keshan disease (an endemic dilated cardiomyopathy) in China. ( 24062877 )
2013
17
An original discovery: selenium deficiency and Keshan disease (an endemic heart disease). ( 22705420 )
2012
18
The effect of DHEA treatment on the oxidative stress and myocardial fibrosis induced by Keshan disease pathogenic factors. ( 21602037 )
2011
19
Analysis of glutathione peroxidase 1 gene polymorphism and Keshan disease in Heilongjiang Province, China. ( 22180033 )
2011
20
Is selenium deficiency really the cause of Keshan disease? ( 20574681 )
2011
21
Suboptimal selenium supply--a continuing problem in Keshan disease areas in Heilongjiang province. ( 21253891 )
2011
22
Selenium level surveillance for the year 2007 of Keshan disease in endemic areas and analysis on surveillance results between 2003 and 2007. ( 20180046 )
2010
23
[Polymorphisms in the glutathione peroxidase-1 gene associated with increased risk of Keshan disease]. ( 21055077 )
2010
24
Chronic exposure to cereal mycotoxin likely citreoviridin may be a trigger for Keshan disease mainly through oxidative stress mechanism. ( 20034747 )
2010
25
Circulating adhesion molecules in patients with Keshan disease and their relationship with Coxsackie B virus infection. ( 19399399 )
2009
26
[The study on relation of HLA-DRB1 gene polymorphism to Keshan disease and its association and linkage in the core families]. ( 17285554 )
2007
27
Keshan disease and mitochondrial cardiomyopathy. ( 17312989 )
2006
28
Coxsackievirus B3 infection and its mutation in Keshan disease. ( 15484304 )
2004
29
HIV-associated cardiomyopathy is not Keshan disease. ( 12042392 )
2002
30
Multifocal myocardial necrosis: a distinctive cardiac lesion in cystic fibrosis, lipomatous pancreatic atrophy, and Keshan disease. ( 12056507 )
2002
31
Fulminant heart failure due to selenium deficiency cardiomyopathy (Keshan disease). ( 11848134 )
2002
32
Selenite inhibition of Coxsackie virus B5 replication: implications on the etiology of Keshan disease. ( 11878751 )
2002
33
High prevalence of enteroviral genomic sequences in myocardium from cases of endemic cardiomyopathy (Keshan disease) in China. ( 10814633 )
2000
34
Alterations in rat pancreatic islet beta cells induced by Keshan disease pathogenic factors: protective action of selenium and vitamin E. ( 9550538 )
1998
35
[Morphological studies of myocardial fibrosis in different types of Keshan disease]. ( 11244934 )
1998
36
Further investigation on the role of selenium deficiency in the aetiology and pathogenesis of Keshan disease. ( 9315325 )
1997
37
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
38
A survey of moniliformin contamination in rice and corn from Keshan disease endemic and non-KSD areas in China. ( 8719174 )
1995
39
Effects of selenium and alpha-tocopherol on liver damage induced by feeding grains from an endemic area of Keshan disease in rats. ( 7969093 )
1994
40
Antioxidant status, erythrocyte fatty acids, and mortality from cardiovascular disease and Keshan disease in China. ( 7956986 )
1994
41
Damage to hepatic thyroxine 5'-deiodination induced by pathogenic factors of Keshan disease and the preventive effects of selenium and vitamin E. ( 1781930 )
1991
42
Common denominators in the etiology and pathology of visceral lesions of cystic fibrosis and Keshan disease. ( 1702672 )
1990
43
The effect of selenium-fortified table salt in the prevention of Keshan disease on a population of 1.05 million. ( 2096847 )
1990
44
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
45
Keshan disease: an entity or not. ( 3402979 )
1988
46
Keshan disease--an endemic mitochondrial cardiomyopathy in China. ( 2908794 )
1988
47
Pancreatic lesions of Keshan disease and its significances. ( 3129250 )
1987
48
Selenium and cardiomyopathy (Keshan disease). ( 3776583 )
1986
49
Keshan disease: an endemic cardiomyopathy in China. ( 3997137 )
1985
50
M-mode echocardiographic features of children with Keshan disease. A preliminary observation of 106 cases. ( 6242288 )
1984

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.3 HLA-DOA HLA-DQA1 HLA-DRA
2
Show member pathways
12.26 HLA-DOA HLA-DQA1 HLA-DRA
3 12.12 HLA-DOA HLA-DQA1 HLA-DRA
4
Show member pathways
12.08 HLA-DOA HLA-DQA1 HLA-DRA
5
Show member pathways
11.96 HLA-DOA HLA-DQA1 HLA-DRA
6 11.91 HLA-DOA HLA-DQA1 HLA-DRA
7 11.81 HLA-DOA HLA-DQA1 HLA-DRA
8 11.74 HLA-DOA HLA-DQA1 HLA-DRA
9 11.59 HLA-DOA HLA-DQA1 HLA-DRA
10 11.56 HLA-DOA HLA-DQA1 HLA-DRA
11 11.48 HLA-DOA HLA-DQA1 HLA-DRA
12 11.39 HLA-DOA HLA-DQA1 HLA-DRA
13 11.32 HLA-DRA TNFSF15
14 11.18 HLA-DOA HLA-DQA1 HLA-DRA
15 10.88 HLA-DOA HLA-DQA1 HLA-DRA
16 10.84 BMP5 BMP7
17
Show member pathways
10.76 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 9.61 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 9.4 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 24)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.81 HLA-DOA HLA-DQA1 HLA-DRA TNFSF15
2 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.63 HLA-DOA HLA-DQA1 HLA-DRA
3 cartilage development GO:0051216 9.62 BMP5 BMP7
4 T cell costimulation GO:0031295 9.61 HLA-DQA1 HLA-DRA
5 interferon-gamma-mediated signaling pathway GO:0060333 9.61 HLA-DQA1 HLA-DRA
6 positive regulation of epithelial cell proliferation GO:0050679 9.6 BMP5 SCN5A
7 SMAD protein signal transduction GO:0060395 9.59 BMP5 BMP7
8 odontogenesis of dentin-containing tooth GO:0042475 9.58 BMP7 SCN5A
9 pattern specification process GO:0007389 9.58 BMP5 BMP7
10 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.57 BMP5 BMP7
11 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.56 BMP5 GPX1
12 cardiac muscle tissue development GO:0048738 9.55 BMP5 BMP7
13 hindbrain development GO:0030902 9.54 BMP5 BMP7
14 pharyngeal system development GO:0060037 9.52 BMP5 BMP7
15 positive regulation of dendrite development GO:1900006 9.49 BMP5 BMP7
16 cardiac septum morphogenesis GO:0060411 9.48 BMP5 BMP7
17 pericardium morphogenesis GO:0003344 9.43 BMP5 BMP7
18 heart trabecula morphogenesis GO:0061384 9.4 BMP5 BMP7
19 chorio-allantoic fusion GO:0060710 9.37 BMP5 BMP7
20 antigen processing and presentation GO:0019882 9.33 HLA-DOA HLA-DQA1 HLA-DRA
21 endocardial cushion formation GO:0003272 9.32 BMP5 BMP7
22 neural fold elevation formation GO:0021502 9.26 BMP5 BMP7
23 allantois development GO:1905069 8.96 BMP5 BMP7
24 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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