MCID: KSH004
MIFTS: 39

Kashin-Beck Disease

Categories: Bone diseases

Aliases & Classifications for Kashin-Beck Disease

MalaCards integrated aliases for Kashin-Beck Disease:

Name: Kashin-Beck Disease 41 17 72

Classifications:



External Ids:

UMLS 72 C2745963

Summaries for Kashin-Beck Disease

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

Wikipedia : 75 Kashin-Beck disease (KBD) is a chronic, endemic type of osteochondropathy (disease of the bone) that is... more...

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 118)
# Related Disease Score Top Affiliating Genes
1 osteoarthritis 32.7 TNF IL1B COL2A1
2 autoimmune disease 30.5 TNF IL1B FAS
3 dwarfism 10.7
4 rheumatoid arthritis 10.6
5 immunodeficiency, common variable, 10 10.6
6 collagenopathy type 2 alpha 1 10.6
7 exudative glomerulonephritis 10.5 TNF IL1B
8 staphylococcal toxic shock syndrome 10.5 TNF IL1B
9 vulvar vestibulitis syndrome 10.5 TNF IL1B
10 laryngitis 10.5 TNF IL1B
11 glossitis 10.5 TNF IL1B
12 soft tissue sarcoma 10.5 TNF BCL2
13 haemophilus influenzae 10.5 TNF IL1B
14 opisthorchiasis 10.5 TNF IL1B
15 cerebral artery occlusion 10.5 TNF IL1B
16 congenital cytomegalovirus 10.5 TNF IL1B
17 acute vascular insufficiency of intestine 10.5 TNF IL1B
18 irritant dermatitis 10.5 TNF IL1B
19 retinitis pigmentosa 60 10.5 TNF IL1B
20 osteosclerotic myeloma 10.5 TNF IL1B
21 actinic prurigo 10.5 TNF IL1B
22 periapical periodontitis 10.5 TNF IL1B
23 poems syndrome 10.5 TNF IL1B
24 crohn's colitis 10.5 TNF IL1B
25 rickets 10.5
26 arthropathy 10.5
27 osteochondrosis 10.5
28 stachybotrys chartarum 10.5 TNF IL1B
29 central nervous system vasculitis 10.5 TNF IL1B
30 autoimmune gastritis 10.5 TNF IL1B
31 jejunoileitis 10.4 TNF IL1B
32 dental pulp disease 10.4 TNF IL1B
33 endometrial disease 10.4 TNF IL1B
34 eales disease 10.4 TNF IL1B
35 primary systemic mycosis 10.4 TNF IL1B
36 blau syndrome 10.4 TNF IL1B
37 scrub typhus 10.4 TNF IL1B
38 aseptic meningitis 10.4 TNF IL1B
39 malignant teratoma 10.4 BCL2 BAX
40 endometritis 10.4 TNF IL1B
41 pulpitis 10.4 TNF IL1B
42 middle ear disease 10.4 TNF IL1B
43 adult-onset still's disease 10.4 TNF IL1B
44 lacrimal apparatus disease 10.4 TNF IL1B
45 commensal bacterial infectious disease 10.4 TNF IL1B
46 suppressor of tumorigenicity 3 10.4 BCL2 BAX
47 perinatal necrotizing enterocolitis 10.4 TNF IL1B
48 gastric lymphoma 10.4 BCL2 BAX
49 aphthous stomatitis 10.4 TNF IL1B
50 alk-negative anaplastic large cell lymphoma 10.4 BCL2 BAX

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 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.01 BAX BCL2 COL2A1 DIO2 FAS IL1B
2 growth/size/body region MP:0005378 10 BAX BCL2 COL2A1 DIO2 FAS IL1B
3 cardiovascular system MP:0005385 9.99 BCL2 COL2A1 FAS IL1B TNF TXNRD2
4 mortality/aging MP:0010768 9.91 BAX BCL2 COL2A1 FAS IL1B TNF
5 craniofacial MP:0005382 9.89 BCL2 COL2A1 FAS IL1B TNF
6 digestive/alimentary MP:0005381 9.88 BCL2 COL2A1 DIO2 FAS TNF
7 nervous system MP:0003631 9.8 BAX BCL2 COL2A1 FAS IL1B TNF
8 hearing/vestibular/ear MP:0005377 9.73 BAX BCL2 COL2A1 FAS
9 neoplasm MP:0002006 9.72 BAX BCL2 FAS IL1B TNF
10 renal/urinary system MP:0005367 9.55 BAX BCL2 COL2A1 DIO2 FAS
11 skeleton MP:0005390 9.43 BAX COL2A1 DIO2 FAS IL1B TNF
12 vision/eye MP:0005391 9.02 BAX BCL2 COL2A1 FAS TNF

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 Study of the Effects of Antioxidant Supplementation in Patients Suffering From 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, Testes, Brain, Colon, Heart, Thyroid, Monocytes

Publications for Kashin-Beck Disease

Articles related to Kashin-Beck Disease:

(show top 50) (show all 320)
# Title Authors PMID Year
1
Expression Profiles of Selenium-Related Genes in Human Chondrocytes Exposed to T-2 Toxin and Deoxynivalenol. 38
30406490 2019
2
The effectiveness of treatments for Kashin-Beck disease: a systematic review and network meta-analysis. 38
31376086 2019
3
Association between DIO2 polymorphism and the risk of Kashin-beck disease in Tibetan. 38
31433532 2019
4
Hair multi-bioelement profile of Kashin-Beck disease in the endemic regions of China. 38
31109624 2019
5
Genetic variants in the ITPR2 gene are associated with Kashin-Beck Disease in Tibetan. 38
31066235 2019
6
The role of the fibroblast growth factor family in bone-related diseases. 38
31260189 2019
7
Conservative tibiotalocalcaneal fusion for partial talar avascular necrosis in conjunction with ankle and subtalar joint osteoarthritis in Kashin-Beck disease: A case report. 38
31335683 2019
8
Integrative Analysis of Genome-Wide Association Studies and DNA Methylation Profile Identified Genetic Control Genes of DNA Methylation for Kashin-Beck Disease. 38
31220921 2019
9
Serious Selenium Deficiency in the Serum of Patients with Kashin-Beck Disease and the Effect of Nano-Selenium on Their Chondrocytes. 38
31175635 2019
10
Differential gene expression in articular cartilage between rheumatoid arthritis and endemic Kashin-Beck disease. 38
31196963 2019
11
Changes in the NF-κB signaling pathway in juvenile and adult patients with Kashin-Beck disease. 38
30951708 2019
12
A preliminary analysis of microRNA profiles in the subchondral bone between Kashin-Beck disease and primary knee osteoarthritis. 38
31062252 2019
13
Pathway-based network analyses and candidate genes associated with Kashin-Beck disease. 38
31045836 2019
14
Relationship of the mobile forms of calcium and strontium in soils with their accumulation in meadow plants in the area of Kashin-Beck endemia. 38
31111334 2019
15
The study on polymorphisms of Sep15 and TrxR2 and the expression of AP-1 signaling pathway in Kashin-Beck disease. 38
29653292 2019
16
Long-term efficacy of repeated sodium hyaluronate injections in adult patients with Kashin-Beck disease of the knee. 38
30460780 2019
17
The systematic review and meta-analysis of X-ray detective rate of Kashin-Beck disease from 1992 to 2016. 38
30764809 2019
18
Outcomes of total knee arthroplasty in the adult Kashin-Beck disease with severe osteoarthritis. 38
29971707 2019
19
Individual and combined toxicity of T-2 toxin and deoxynivalenol on human C-28/I2 and rat primary chondrocytes. 38
30251759 2019
20
The Importance of Se-Related Genes in the Chondrocyte of Kashin-Beck Disease Revealed by Whole Genomic Microarray and Network Analysis. 38
29948913 2019
21
Decreased Expression of CHST-12, CHST-13, and UST in the Proximal Interphalangeal Joint Cartilage of School-Age Children with Kashin-Beck Disease: an Endemic Osteoarthritis in China Caused by Selenium Deficiency. 38
30661165 2019
22
The levels of urine CTX-II, C2C, and PYD in children patients with Kashin-Beck disease in Qinghai Province of China. 38
30635000 2019
23
Biological Analysis of Gene Expression and Clinical Variables Suggest FZD1 as a Novel Biomarker for Patients with Kashin-Beck Disease, an Endemic Osteoarthritis in China. 38
30719180 2019
24
Selenium Content and/or T-2 Toxin Contamination of Cereals, Soil, and Children's Hair in Some Areas of Heilongjiang and Gansu Provinces, China. 38
30607701 2019
25
Imbalance of dietary nutrients and the associated differentially expressed genes and pathways may play important roles in juvenile Kashin-Beck disease. 38
29426639 2018
26
T-2 Toxin Induces Epiphyseal Plate Lesions via Decreased SECISBP2-Mediated Selenoprotein Expression in DA Rats, Exacerbated by Selenium Deficiency. 38
30596260 2018
27
Geochemical valuation and intake of F, As, and Se in coal wastes contaminated areas and their potential impacts on local inhabitants, Shaanxi China. 38
29948537 2018
28
Death of chondrocytes in Kashin-Beck disease: Apoptosis, necrosis or necroptosis? 38
30680829 2018
29
The study of GPX3 methylation in patients with Kashin-Beck Disease and its mechanism in chondrocyte apoptosis. 38
30153510 2018
30
Comparison of bone texture between normal individuals and patients with Kashin-Beck disease from plain radiographs in knee. 38
30504816 2018
31
3-morpholinosydnonimine (SIN-1)-induced oxidative stress leads to necrosis in hypertrophic chondrocytes in vitro. 38
30119244 2018
32
Selenium-Related Transcriptional Regulation of Gene Expression. 38
30205557 2018
33
RNA-seq analysis reveals different gene ontologies and pathways in rheumatoid arthritis and Kashin-Beck disease. 38
30256536 2018
34
Changes in osteogenic gene expression in hypertrophic chondrocytes induced by SIN-1. 38
30116317 2018
35
Associations Between Selenium Content in Hair and Kashin-Beck Disease/Keshan Disease in Children in Northwestern China: a Prospective Cohort Study. 38
28983831 2018
36
FGF8 and FGFR3 are up-regulated in hypertrophic chondrocytes: Association with chondrocyte death in deep zone of Kashin-Beck disease. 38
29626475 2018
37
Nutrients Other than Selenium Are Important for Promoting Children's Health in Kashin-Beck Disease Areas. 38
28921450 2018
38
Serum levels of PIICP, PIIANP, and PIIBNP are decreased in patients with an endemic osteochondropathy, Kashin-Beck disease. 38
29843748 2018
39
Dioscorea nipponica Makino: a systematic review on its ethnobotany, phytochemical and pharmacological profiles. 38
29748731 2018
40
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. 38
29773097 2018
41
Selenium status of children in Kashin-Beck disease endemic areas in Shaanxi, China: assessment with mercury. 38
29018984 2018
42
Dietary exosome-miR-23b may be a novel therapeutic measure for preventing Kashin-Beck disease. 38
29556257 2018
43
[The Effect of Disordered Glycometabolism of Kashin-Beck Disease on the Function of Chondrocytes]. 38
29737064 2018
44
Integrating genome-wide DNA methylation and mRNA expression profiles identified different molecular features between Kashin-Beck disease and primary osteoarthritis. 38
29514696 2018
45
Gene Expression Profile of Hypertrophic Chondrocytes Treated with H2O2: A Preliminary Investigation. 38
29620514 2018
46
Effects of five types of selenium supplementation for treatment of Kashin-Beck disease in children: a systematic review and network meta-analysis. 38
29511006 2018
47
The characteristics of positive and confusing hand X-ray signs in diagnosing Kashin-Beck Disease in children in China. 38
29459762 2018
48
Serum and Hair Zinc Levels in Patients with Endemic Osteochondropathy in China: A Meta-analysis. 38
28567582 2018
49
Comparative Analysis of Gene Expression Profiles of Human Dental Fluorosis and Kashin-Beck Disease. 38
29317700 2018
50
Prevalence of hand osteoarthritis and knee osteoarthritis in Kashin-Beck disease endemic areas and non Kashin-Beck disease endemic areas: A status survey. 38
29320581 2018

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 64)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 TNF IL1B FAS COL2A1 BCL2 BAX
2
Show member pathways
13.24 TNF IL1B FAS BCL2 BAX
3
Show member pathways
13.04 TXNRD2 TNF IL1B FAS BCL2 BAX
4
Show member pathways
12.94 TNF IL1B FAS BCL2
5
Show member pathways
12.81 TNF FAS BCL2 BAX
6
Show member pathways
12.8 TNF FAS COL2A1 BCL2 BAX
7
Show member pathways
12.78 TNF IL1B FAS BCL2 BAX
8 12.7 TXNRD2 FAS BCL2 BAX
9
Show member pathways
12.67 TNF FAS BCL2 BAX
10
Show member pathways
12.47 TNF IL1B FAS BCL2
11
Show member pathways
12.44 TNF IL1B BCL2 BAX
12
Show member pathways
12.43 TNF IL1B FAS
13
Show member pathways
12.35 IL1B BCL2 BAX
14
Show member pathways
12.32 IL1B BCL2 BAX
15
Show member pathways
12.32 TNF IL1B FAS BCL2 BAX
16
Show member pathways
12.25 FAS BCL2 BAX
17
Show member pathways
12.17 TXNRD2 TNF IL1B DIO2
18
Show member pathways
12.14 TNF IL1B BCL2
19
Show member pathways
12.13 FAS BCL2 BAX
20
Show member pathways
12.12 TNF FAS BCL2 BAX
21
Show member pathways
12.07 TNF IL1B FAS
22 12.02 TNF FAS BCL2 BAX
23 11.99 TNF IL1B BCL2 BAX
24 11.98 TNF IL1B BCL2
25 11.95 FAS BCL2 BAX
26
Show member pathways
11.92 TNF BCL2 BAX
27 11.9 TNF IL1B COL2A1
28 11.89 TNF BCL2 BAX
29 11.87 TNF IL1B BCL2
30
Show member pathways
11.86 TNF BCL2 BAX
31 11.85 TNF IL1B FAS
32 11.8 TNF IL1B BCL2
33
Show member pathways
11.69 FAS BCL2 BAX
34 11.63 FAS BCL2 BAX
35 11.46 TNF IL1B BCL2 BAX
36 11.42 TNF IL1B
37 11.4 TNF IL1B BAX
38 11.39 TXNRD2 DIO2
39 11.39 BCL2 BAX
40 11.38 TNF IL1B
41 11.37 TNF FAS
42
Show member pathways
11.36 TNF IL1B
43 11.34 TNF BCL2 BAX
44
Show member pathways
11.31 FAS BCL2 BAX
45 11.26 IL1B BAX
46 11.26 TNF IL1B
47
Show member pathways
11.26 TNF IL1B FAS BCL2 BAX
48 11.21 TNF IL1B
49 11.2 TNF IL1B
50 11.16 TNF IL1B

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 BCL2 BAX

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

(show top 50) (show all 56)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.98 IL1B FAS BCL2 BAX
2 cytokine-mediated signaling pathway GO:0019221 9.89 TNF IL1B BCL2
3 regulation of apoptotic process GO:0042981 9.88 FAS BCL2 BAX
4 positive regulation of protein phosphorylation GO:0001934 9.84 TNF IL1B FAS
5 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.78 TNF FAS BAX
6 positive regulation of interferon-gamma production GO:0032729 9.72 TNF IL1B
7 positive regulation of nitric oxide biosynthetic process GO:0045429 9.71 TNF IL1B
8 ovarian follicle development GO:0001541 9.71 BCL2 BAX
9 protein kinase B signaling GO:0043491 9.71 TNF IL1B
10 positive regulation of phagocytosis GO:0050766 9.71 TNF IL1B
11 neuron apoptotic process GO:0051402 9.7 BCL2 BAX
12 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.7 BCL2 BAX
13 negative regulation of mitotic cell cycle GO:0045930 9.7 TNF BCL2
14 apoptotic signaling pathway GO:0097190 9.7 TNF FAS BAX
15 lipopolysaccharide-mediated signaling pathway GO:0031663 9.69 TNF IL1B
16 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.69 BCL2 BAX
17 homeostasis of number of cells within a tissue GO:0048873 9.69 BCL2 BAX
18 regulation of mitochondrial membrane potential GO:0051881 9.68 BCL2 BAX
19 positive regulation of interleukin-8 production GO:0032757 9.68 TNF IL1B
20 negative regulation of neurogenesis GO:0050768 9.68 TNF IL1B
21 negative regulation of apoptotic signaling pathway GO:2001234 9.67 BCL2 BAX
22 limb morphogenesis GO:0035108 9.67 COL2A1 BAX
23 B cell homeostasis GO:0001782 9.67 BCL2 BAX
24 release of cytochrome c from mitochondria GO:0001836 9.66 BCL2 BAX
25 apoptotic mitochondrial changes GO:0008637 9.65 BCL2 BAX
26 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.65 TNF IL1B
27 positive regulation of glial cell proliferation GO:0060252 9.65 TNF IL1B
28 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.65 TNF BCL2 BAX
29 negative regulation of lipid catabolic process GO:0050995 9.64 TNF IL1B
30 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.64 TNF IL1B
31 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.63 TNF IL1B
32 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.63 BCL2 BAX
33 regulation of protein heterodimerization activity GO:0043497 9.62 BCL2 BAX
34 response to salt stress GO:0009651 9.62 TNF BAX
35 positive regulation of chemokine biosynthetic process GO:0045080 9.61 TNF IL1B
36 extrinsic apoptotic signaling pathway GO:0097191 9.61 TNF FAS BAX
37 regulation of protein homodimerization activity GO:0043496 9.6 BCL2 BAX
38 regulation of establishment of endothelial barrier GO:1903140 9.59 TNF IL1B
39 ectopic germ cell programmed cell death GO:0035234 9.58 IL1B BAX
40 positive regulation of neuroinflammatory response GO:0150078 9.58 TNF IL1B
41 cellular response to organic substance GO:0071310 9.58 IL1B BCL2 BAX
42 necroptotic signaling pathway GO:0097527 9.57 TNF FAS
43 leukocyte homeostasis GO:0001776 9.56 BCL2 BAX
44 positive regulation of fever generation GO:0031622 9.55 TNF IL1B
45 response to glucocorticoid GO:0051384 9.54 TNF BCL2
46 sequestering of triglyceride GO:0030730 9.51 TNF IL1B
47 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.46 TNF IL1B
48 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.43 TNF BCL2 BAX
49 positive regulation of neuron apoptotic process GO:0043525 9.42 BAX
50 positive regulation of JUN kinase activity GO:0043507 9.41 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 TNF FAS COL2A1 BCL2 BAX
2 channel activity GO:0015267 9.16 BCL2 BAX
3 BH3 domain binding GO:0051434 8.62 BCL2 BAX

Sources for Kashin-Beck Disease

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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