Aliases & Classifications for Kashin-Beck Disease

MalaCards integrated aliases for Kashin-Beck Disease:

Name: Kashin-Beck Disease 41 73

External Ids:

UMLS 73 C2745963

Summaries for Kashin-Beck Disease

MalaCards based summary : Kashin-Beck Disease is related to osteoarthritis and arthritis. An important gene associated with Kashin-Beck Disease is TNF (Tumor Necrosis Factor), and among its related pathways/superpathways are ERK Signaling and TGF-Beta Pathway. The drugs Selenic acid and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and liver, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Related Diseases for Kashin-Beck Disease

Diseases related to Kashin-Beck Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 osteoarthritis 32.7 IL1B MMP1 TNF
2 arthritis 30.6 IL1B MMP1 TNF
3 rheumatoid arthritis 30.3 IL1B MMP1 TNF VEGFA
4 rickets 10.4
5 osteoporosis 10.3
6 body mass index quantitative trait locus 1 10.3
7 keshan disease 10.3
8 dental fluorosis 10.3
9 hypoxia 10.3
10 atlantoaxial subluxation 10.3
11 exudative glomerulonephritis 10.2 IL1B TNF
12 staphylococcal toxic shock syndrome 10.2 IL1B TNF
13 rheumatoid lung disease 10.2 IL1B TNF
14 vulvar vestibulitis syndrome 10.2 IL1B TNF
15 burns 10.2 IL1B TNF
16 glossitis 10.2 IL1B TNF
17 laryngitis 10.2 IL1B TNF
18 haemophilus influenzae 10.2 IL1B TNF
19 opisthorchiasis 10.2 IL1B TNF
20 retinitis pigmentosa 60 10.2 IL1B TNF
21 irritant dermatitis 10.2 IL1B TNF
22 acute vascular insufficiency of intestine 10.2 IL1B TNF
23 congenital cytomegalovirus 10.2 IL1B TNF
24 actinic prurigo 10.2 IL1B TNF
25 osteosclerotic myeloma 10.2 IL1B TNF
26 crohn's colitis 10.2 IL1B TNF
27 periapical periodontitis 10.2 IL1B TNF
28 central nervous system vasculitis 10.2 IL1B TNF
29 stachybotrys chartarum 10.2 IL1B TNF
30 jejunoileitis 10.2 IL1B TNF
31 endometrial disease 10.2 IL1B TNF
32 dental pulp disease 10.2 IL1B TNF
33 primary systemic mycosis 10.2 IL1B TNF
34 blau syndrome 10.2 IL1B TNF
35 endometritis 10.2 IL1B TNF
36 aseptic meningitis 10.2 IL1B TNF
37 malignant teratoma 10.2 BAX BCL2
38 scrub typhus 10.2 IL1B TNF
39 joint disorders 10.2 IL1B TNF
40 middle ear disease 10.2 IL1B TNF
41 critical limb ischemia 10.2 TNF VEGFA
42 suppressor of tumorigenicity 3 10.2 BAX BCL2
43 lacrimal apparatus disease 10.2 IL1B TNF
44 adult-onset still's disease 10.2 IL1B TNF
45 alk-negative anaplastic large cell lymphoma 10.2 BAX BCL2
46 commensal bacterial infectious disease 10.2 IL1B TNF
47 chronic venous leg ulcers 10.2 BCL2 FAS
48 radiation proctitis 10.2 TNF VEGFA
49 newcastle disease 10.1 BAX TNF
50 focal cortical dysplasia, type ii 10.1 BAX BCL2

Graphical network of the top 20 diseases related to Kashin-Beck Disease:



Diseases related to Kashin-Beck Disease

Symptoms & Phenotypes for Kashin-Beck Disease

GenomeRNAi Phenotypes related to Kashin-Beck Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.62 BAX BCL2 FAS IL1B TNF
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.62 BAX BCL2 FAS IL1B TNF

MGI Mouse Phenotypes related to Kashin-Beck Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.01 BAX BCL2 FAS IL1B MMP1 TNF
2 hematopoietic system MP:0005397 9.98 BAX BCL2 FAS IL1B TNF TXNRD2
3 cardiovascular system MP:0005385 9.95 BCL2 FAS IL1B TNF TXNRD2 VEGFA
4 immune system MP:0005387 9.91 BAX BCL2 FAS IL1B MMP1 TNF
5 mortality/aging MP:0010768 9.87 BAX BCL2 FAS IL1B TNF TXNRD2
6 craniofacial MP:0005382 9.85 BCL2 FAS IL1B TNF VEGFA
7 neoplasm MP:0002006 9.7 BAX BCL2 FAS IL1B MMP1 TNF
8 muscle MP:0005369 9.65 BAX BCL2 TNF TXNRD2 VEGFA
9 nervous system MP:0003631 9.5 BAX BCL2 FAS IL1B TNF TXNRD2
10 vision/eye MP:0005391 9.02 BAX BCL2 FAS TNF VEGFA

Drugs & Therapeutics for Kashin-Beck Disease

Drugs for Kashin-Beck Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Selenic acid Approved Phase 2 7783-08-6
2 Antioxidants Phase 2
3 Garcinia Phase 2
4 Protective Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Antioxidant Supplementation in Patients With Kashin-Beck Disease Unknown status NCT00376025 Phase 2

Search NIH Clinical Center for Kashin-Beck Disease

Genetic Tests for Kashin-Beck Disease

Anatomical Context for Kashin-Beck Disease

MalaCards organs/tissues related to Kashin-Beck Disease:

41
Bone, Lung, Liver, Lymph Node, Tonsil, Prostate, B Cells

Publications for Kashin-Beck Disease

Articles related to Kashin-Beck Disease:

(show top 50) (show all 205)
# Title Authors Year
1
Imbalance of dietary nutrients and the associated differentially expressed genes and pathways may play important roles in juvenile Kashin-Beck disease. ( 29426639 )
2018
2
Polymorphism in rs2229783 of the Alpha 1(XI) Collagen Gene Is Associated with Susceptibility to but not Severity of Kashin-Beck Disease in a Northwest Chinese Han Population. ( 29773097 )
2018
3
The Importance of Se-Related Genes in the Chondrocyte of Kashin-Beck Disease Revealed by Whole Genomic Microarray and Network Analysis. ( 29948913 )
2018
4
Dietary exosome-miR-23b may be a novel therapeutic measure for preventing Kashin-Beck disease. ( 29556257 )
2018
5
Outcomes of total knee arthroplasty in the adult Kashin-Beck disease with severe osteoarthritis. ( 29971707 )
2018
6
Comparative Analysis of Gene Expression Profiles of Human Dental Fluorosis and Kashin-Beck Disease. ( 29317700 )
2018
7
The study on polymorphisms of Sep15 and TrxR2 and the expression of AP-1 signaling pathway in Kashin-Beck disease. ( 29653292 )
2018
8
Serum levels of PIICP, PIIANP, and PIIBNP are decreased in patients with an endemic osteochondropathy, Kashin-Beck disease. ( 29843748 )
2018
9
The characteristics of positive and confusing hand X-ray signs in diagnosing Kashin-Beck Disease in children in China. ( 29459762 )
2018
10
Integrating genome-wide DNA methylation and mRNA expression profiles identified different molecular features between Kashin-Beck disease and primary osteoarthritis. ( 29514696 )
2018
11
Prevalence of hand osteoarthritis and knee osteoarthritis in Kashin-Beck disease endemic areas and non Kashin-Beck disease endemic areas: A status survey. ( 29320581 )
2018
12
FGF8 and FGFR3 are up-regulated in hypertrophic chondrocytes: Association with chondrocyte death in deep zone of Kashin-Beck disease. ( 29626475 )
2018
13
Effects of five types of selenium supplementation for treatment of Kashin-Beck disease in children: a systematic review and network meta-analysis. ( 29511006 )
2018
14
RNA-seq analysis reveals different gene ontologies and pathways in rheumatoid arthritis and Kashin-Beck disease. ( 30256536 )
2018
15
The study of GPX3 methylation in patients with Kashin-Beck Disease and its mechanism in chondrocyte apoptosis. ( 30153510 )
2018
16
Long-term efficacy of repeated sodium hyaluronate injections in adult patients with Kashin-Beck disease of the knee. ( 30460780 )
2018
17
Comparison of bone texture between normal individuals and patients with Kashin-Beck disease from plain radiographs in knee. ( 30504816 )
2018
18
Genome-wide DNA methylation profiling of articular cartilage reveals significant epigenetic alterations in Kashin-Beck disease and osteoarthritis. ( 28818737 )
2017
19
Altered expression of chondroitin sulfate structure modifying sulfotransferases in the articular cartilage from adult osteoarthritis and Kashin-Beck disease. ( 28274888 )
2017
20
Evaluation of the Sensitivity and Specificity of the New Clinical Diagnostic and Classification Criteria for Kashin-Beck Disease, an Endemic Osteoarthritis, in China. ( 28292355 )
2017
21
Zinc: the Other Suspected Environmental Factor in Kashin-Beck Disease in Addition to Selenium. ( 28224461 )
2017
22
Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population. ( 28651521 )
2017
23
Long noncoding RNA expression profile reveals lncRNAs signature associated with extracellular matrix degradation in kashin-beck disease. ( 29242531 )
2017
24
The expression of ERK and JNK in patients with an endemic osteochondropathy, Kashin-Beck disease. ( 28807789 )
2017
25
Associations Between Selenium Content in Hair and Kashin-Beck Disease/Keshan Disease in Children in Northwestern China: a Prospective Cohort Study. ( 28983831 )
2017
26
Comparison of microRNA expression profiles of Kashin-Beck disease, osteoarthritis and rheumatoid arthritis. ( 28373711 )
2017
27
Chondrocytes damage induced by T-2 toxin via Wnt/I^-catenin signaling pathway is involved in the pathogenesis of an endemic osteochondropathy, Kashin-Beck disease. ( 29042209 )
2017
28
Selenium status of children in Kashin-Beck disease endemic areas in Shaanxi, China: assessment with mercury. ( 29018984 )
2017
29
Increased Chondrocyte Apoptosis in Kashin-Beck Disease and Rats Induced by T-2 Toxin and Selenium Deficiency. ( 28549491 )
2017
30
Nutrients Other than Selenium Are Important for Promoting Children's Health in Kashin-Beck Disease Areas. ( 28921450 )
2017
31
Genome-wide association study identifies COL2A1 locus involved in the hand development failure of Kashin-Beck disease. ( 28059113 )
2017
32
Detection of the Urinary Biomarkers PYD, CTX-II, and DPD in Patients with Kashin-Beck Disease in the Qinghai Province of China. ( 28549495 )
2017
33
Genetic association, mRNA and protein expression analysis identify ATG4C as a susceptibility gene for Kashin-Beck disease. ( 27742532 )
2017
34
Reliability and validity of the 12-item WHODAS 2.0 in patients with Kashin-Beck disease. ( 28439626 )
2017
35
The efficacy and safety of intra-articular injection of hyaluronic acid in the knee and physical therapy agents to treat Kashin-Beck disease: A prospective interventional study. ( 27446269 )
2016
36
PPARGC1B gene is associated with Kashin-Beck disease in Han Chinese. ( 27108113 )
2016
37
Accidental or linked: separated odontoid process fused to the enlarged anterior arch of the atlas associated with atlantoaxial subluxation in a Kashin-Beck disease patient. ( 27652680 )
2016
38
Distribution and translocation of selenium from soil to highland barley in the Tibetan Plateau Kashin-Beck disease area. ( 27071616 )
2016
39
Comparative analysis of signaling pathways in peripheral blood from patients with Kashin-Beck disease and osteoarthritis. ( 28101186 )
2016
40
Reliability and validity of the EQ-5D-3L for Kashin-Beck disease in China. ( 27917330 )
2016
41
Effects of sodium selenite on c-Jun N-terminal kinase signalling pathway induced by oxidative stress in human chondrocytes and c-Jun N-terminal kinase expression in patients with Kashin-Beck disease, an endemic osteoarthritis. ( 26948765 )
2016
42
Exploring Genome-wide DNA Methylation Profiles Altered in Kashin-Beck Disease Using Infinium Human Methylation 450 Bead Chips. ( 27554126 )
2016
43
Population-based comparative analysis of differentially expressed genes between Kashin-Beck disease grades I and II. ( 26767981 )
2016
44
Investigation of MMP-1 genetic polymorphisms and protein expression and their effects on the risk of Kashin-Beck disease in the northwest Chinese Han population. ( 27245218 )
2016
45
Evaluation of the relationship and genetic overlap between Kashin-Beck disease and body mass index. ( 27053287 )
2016
46
The roles of selenium, insulin-like growth factor binding protein 2 and suppressor of cytokine signaling 3 in the pathogenesis of Kashin-Beck disease. ( 27099071 )
2016
47
Field synopsis and meta-analyses of genetic epidemiological evidence for Kashin-Beck disease, an endemic osteoarthropathy in China. ( 27256326 )
2016
48
Staged total knee arthroplasty for bilateral complex knee deformities from Kashin-Beck disease and skeletal dysplasia. ( 27923623 )
2016
49
A bivariate genome-wide association study identifies ADAM12 as a novel susceptibility gene for Kashin-Beck disease. ( 27545300 )
2016
50
Effect of calcium and vitamin D on growth, rickets and Kashin-Beck disease in 0-5 year old children in a rural area of Central Tibet. ( 27102369 )
2016

Variations for Kashin-Beck Disease

Expression for Kashin-Beck Disease

Search GEO for disease gene expression data for Kashin-Beck Disease.

Pathways for Kashin-Beck Disease

Pathways related to Kashin-Beck Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 BAX BCL2 FAS IL1B TNF VEGFA
2
Show member pathways
13.38 BAX BCL2 IL1B TNF VEGFA
3
Show member pathways
13.26 BAX BCL2 FAS IL1B TNF
4
Show member pathways
13.21 BCL2 IL1B MMP1 TNF VEGFA
5
Show member pathways
13.13 BAX BCL2 FAS IL1B TNF TXNRD2
6
Show member pathways
12.88 BCL2 FAS IL1B TNF
7
Show member pathways
12.87 BAX BCL2 FAS TNF VEGFA
8
Show member pathways
12.82 BAX BCL2 FAS TNF VEGFA
9
Show member pathways
12.79 BAX BCL2 FAS IL1B TNF VEGFA
10
Show member pathways
12.75 FAS IL1B TNF VEGFA
11
Show member pathways
12.69 BAX BCL2 FAS TNF
12 12.64 FAS IL1B TNF VEGFA
13 12.52 BAX BCL2 FAS MMP1 TXNRD2 VEGFA
14
Show member pathways
12.49 BAX BCL2 FAS IL1B TNF
15
Show member pathways
12.48 BAX BCL2 IL1B TNF
16
Show member pathways
12.44 BCL2 FAS IL1B TNF VEGFA
17
Show member pathways
12.37 BAX BCL2 IL1B
18
Show member pathways
12.34 BAX BCL2 IL1B
19
Show member pathways
12.32 FAS IL1B TNF
20
Show member pathways
12.28 BAX BCL2 FAS
21
Show member pathways
12.23 IL1B TNF TXNRD2
22
Show member pathways
12.23 IL1B MMP1 TNF
23 12.2 FAS TNF VEGFA
24 12.2 BAX BCL2 FAS TNF
25
Show member pathways
12.18 BAX BCL2 FAS TNF
26
Show member pathways
12.16 BCL2 IL1B TNF
27
Show member pathways
12.15 BAX BCL2 FAS
28 12.14 BAX BCL2 FAS TNF
29 12.12 BAX BCL2 IL1B TNF
30
Show member pathways
12.09 FAS IL1B TNF
31 12.08 IL1B TNF VEGFA
32 12.07 BAX MMP1 TNF VEGFA
33 12.01 BAX BCL2 MMP1 VEGFA
34 11.98 BAX BCL2 FAS
35
Show member pathways
11.94 BAX BCL2 TNF
36 11.92 BAX BCL2 TNF
37 11.92 BCL2 IL1B TNF VEGFA
38
Show member pathways
11.9 BAX BCL2 TNF
39 11.88 FAS IL1B TNF
40 11.81 BCL2 IL1B TNF
41
Show member pathways
11.79 BAX BCL2 FAS IL1B TNF
42
Show member pathways
11.75 BAX BCL2 FAS
43 11.68 BAX BCL2 FAS
44 11.66 IL1B MMP1 TNF VEGFA
45 11.47 BAX IL1B TNF
46
Show member pathways
11.47 IL1B MMP1 TNF VEGFA
47 11.45 BAX BCL2 MMP1
48 11.42 BAX BCL2 TNF
49 11.41 BCL2 IL1B MMP1 TNF VEGFA
50 11.4 IL1B TNF

GO Terms for Kashin-Beck Disease

Cellular components related to Kashin-Beck Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pore complex GO:0046930 8.62 BAX BCL2

Biological processes related to Kashin-Beck Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.9 BAX BCL2 FAS
2 leukocyte migration GO:0050900 9.86 IL1B MMP1 TNF
3 kidney development GO:0001822 9.82 BAX BCL2 VEGFA
4 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.8 BAX FAS TNF
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.78 BCL2 TNF VEGFA
6 response to glucocorticoid GO:0051384 9.74 BCL2 IL1B TNF
7 positive regulation of interferon-gamma production GO:0032729 9.73 IL1B TNF
8 positive regulation of nitric oxide biosynthetic process GO:0045429 9.73 IL1B TNF
9 positive regulation of JUN kinase activity GO:0043507 9.73 IL1B TNF
10 apoptotic signaling pathway GO:0097190 9.73 BAX FAS TNF
11 positive regulation of protein phosphorylation GO:0001934 9.73 FAS IL1B TNF VEGFA
12 positive regulation of phagocytosis GO:0050766 9.72 IL1B TNF
13 protein kinase B signaling GO:0043491 9.72 IL1B TNF
14 neuron apoptotic process GO:0051402 9.72 BAX BCL2
15 lipopolysaccharide-mediated signaling pathway GO:0031663 9.72 IL1B TNF
16 negative regulation of mitotic cell cycle GO:0045930 9.71 BCL2 TNF
17 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.71 BAX BCL2
18 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.71 BAX BCL2
19 homeostasis of number of cells within a tissue GO:0048873 9.71 BAX BCL2
20 positive regulation of p38MAPK cascade GO:1900745 9.71 IL1B VEGFA
21 regulation of mitochondrial membrane potential GO:0051881 9.7 BAX BCL2
22 positive regulation of interleukin-8 production GO:0032757 9.7 IL1B TNF
23 negative regulation of apoptotic signaling pathway GO:2001234 9.7 BAX BCL2
24 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.7 BAX BCL2 TNF
25 negative regulation of neurogenesis GO:0050768 9.69 IL1B TNF
26 positive regulation of protein complex assembly GO:0031334 9.69 TNF VEGFA
27 B cell homeostasis GO:0001782 9.68 BAX BCL2
28 apoptotic mitochondrial changes GO:0008637 9.68 BAX BCL2
29 release of cytochrome c from mitochondria GO:0001836 9.68 BAX BCL2
30 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.68 IL1B VEGFA
31 negative regulation of lipid catabolic process GO:0050995 9.67 IL1B TNF
32 positive regulation of glial cell proliferation GO:0060252 9.67 IL1B TNF
33 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.67 IL1B TNF
34 extrinsic apoptotic signaling pathway GO:0097191 9.67 BAX FAS TNF
35 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.66 IL1B TNF
36 positive regulation of protein oligomerization GO:0032461 9.66 BAX MMP1
37 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.65 BAX BCL2
38 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.65 IL1B TNF
39 cellular response to organic substance GO:0071310 9.65 BAX BCL2 IL1B
40 regulation of protein heterodimerization activity GO:0043497 9.64 BAX BCL2
41 response to salt stress GO:0009651 9.64 BAX TNF
42 positive regulation of chemokine biosynthetic process GO:0045080 9.63 IL1B TNF
43 ovarian follicle development GO:0001541 9.63 BAX BCL2 VEGFA
44 ectopic germ cell programmed cell death GO:0035234 9.62 BAX IL1B
45 regulation of establishment of endothelial barrier GO:1903140 9.62 IL1B TNF
46 regulation of protein homodimerization activity GO:0043496 9.61 BAX BCL2
47 leukocyte homeostasis GO:0001776 9.6 BAX BCL2
48 necroptotic signaling pathway GO:0097527 9.59 FAS TNF
49 positive regulation of neuroinflammatory response GO:0150078 9.58 IL1B TNF
50 positive regulation of fever generation GO:0031622 9.58 IL1B TNF

Molecular functions related to Kashin-Beck Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.35 BAX BCL2 FAS TNF VEGFA
2 cytokine activity GO:0005125 9.33 IL1B TNF VEGFA
3 channel activity GO:0015267 9.26 BAX BCL2
4 BH3 domain binding GO:0051434 8.62 BAX BCL2

Sources for Kashin-Beck 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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