MCID: KSH004
MIFTS: 38

Kashin-Beck Disease

Categories: Bone diseases

Aliases & Classifications for Kashin-Beck Disease

MalaCards integrated aliases for Kashin-Beck Disease:

Name: Kashin-Beck Disease 40 17 71

Classifications:



External Ids:

UMLS 71 C2745963

Summaries for Kashin-Beck Disease

MalaCards based summary : Kashin-Beck Disease is related to osteoarthritis and dwarfism. An important gene associated with Kashin-Beck Disease is TXNRD2 (Thioredoxin Reductase 2), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Akt Signaling. The drugs Selenic acid and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and heart, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Wikipedia : 74 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 184)
# Related Disease Score Top Affiliating Genes
1 osteoarthritis 11.5
2 dwarfism 10.5
3 rheumatoid arthritis 10.4
4 arthropathy 10.4
5 arthritis 10.4
6 rickets 10.3
7 osteochondrosis 10.3
8 avascular necrosis 10.3
9 soft tissue sarcoma 10.2 TNF BCL2
10 graves disease 1 10.2 TXNRD2 DIO2
11 thyroid lymphoma 10.2 TNF FAS
12 ileocolitis 10.2 TNF GPX1
13 epstein-barr virus-associated gastric carcinoma 10.2 TNF FAS
14 autoimmune disease 10.1
15 osteoporosis 10.1
16 odontochondrodysplasia 10.1
17 triiodothyronine receptor auxiliary protein 10.1
18 ehlers-danlos syndrome, dermatosparaxis type 10.1
19 spondylometaphyseal dysplasia, sedaghatian type 10.1
20 chudley-mccullough syndrome 10.1
21 body mass index quantitative trait locus 1 10.1
22 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
23 bone mineral density quantitative trait locus 8 10.1
24 bone mineral density quantitative trait locus 15 10.1
25 keshan disease 10.1
26 brugada syndrome 10.1
27 bone disease 10.1
28 goiter 10.1
29 dental fluorosis 10.1
30 exostosis 10.1
31 juvenile rheumatoid arthritis 10.1
32 muscular atrophy 10.1
33 47,xyy 10.1
34 cytokine deficiency 10.1
35 hypoxia 10.1
36 posttransplant acute limbic encephalitis 10.1
37 rapidly involuting congenital hemangioma 10.1
38 physiological polycythemia 10.1 TNF IL1B
39 staphylococcal toxic shock syndrome 10.1 TNF IL1B
40 vulvar vestibulitis syndrome 10.1 TNF IL1B
41 palladium allergic contact dermatitis 10.1 TNF IL1B
42 ulcer of lower limbs 10.1 TNF IL1B
43 arachnoiditis 10.1 TNF IL1B
44 cerebritis 10.1 TNF IL1B
45 actinic prurigo 10.1 TNF IL1B
46 stachybotrys chartarum 10.1 TNF IL1B
47 cheilitis 10.1 TNF BCL2
48 congenital cytomegalovirus 10.1 TNF IL1B
49 bacterial conjunctivitis 10.1 TNF IL1B
50 tracheitis 10.1 TNF IL1B

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 9.23 FAS IL1B TNF
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 BAX FAS IL1B TNF
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.23 BAX

MGI Mouse Phenotypes related to Kashin-Beck Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.87 BAX BCL2 FAS GPX1 IL1B TNF
2 homeostasis/metabolism MP:0005376 9.86 BAX BCL2 DIO2 FAS GPX1 IL1B
3 endocrine/exocrine gland MP:0005379 9.85 BAX BCL2 DIO2 FAS GPX1 TNF
4 digestive/alimentary MP:0005381 9.8 BCL2 DIO2 FAS GPX1 TNF
5 muscle MP:0005369 9.55 BAX BCL2 FAS TNF TXNRD2
6 neoplasm MP:0002006 9.35 BAX BCL2 FAS IL1B TNF
7 nervous system MP:0003631 9.17 BAX BCL2 FAS GPX1 IL1B 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 Protective Agents Phase 2
3 Antioxidants Phase 2
4 Garcinia 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:

40
Bone, Brain, Heart, Colon, Thyroid, Endothelial

Publications for Kashin-Beck Disease

Articles related to Kashin-Beck Disease:

(show top 50) (show all 353)
# Title Authors PMID Year
1
Decreased Expression of Heat Shock Protein 47 Is Associated with T-2 Toxin and Low Selenium-Induced Matrix Degradation in Cartilages of Kashin-Beck Disease. 61
32591934 2021
2
Status and risks of selenium deficiency in a traditional selenium-deficient area in Northeast China. 61
33360462 2021
3
Spatial distribution and determinants of health loss from Kashin-Beck disease in Bin County, Shaanxi Province, China. 61
33607974 2021
4
Differences in quinone redox system of humic substances between endemic and disease-free areas in Kashin-Beck disease-affected Changdu Region, Tibet, China. 61
33523329 2021
5
Protective effect of chondroitin sulfate nano-selenium on chondrocyte of patients with Kashin-Beck disease. 61
33487067 2021
6
Patients with Osteoarthritis and Kashin-Beck Disease Display Distinct CpG Methylation Profiles in the DIO2, GPX3, and TXRND1 Promoter Regions. 61
33455417 2021
7
T-2 Toxin Induces Epiphyseal Plate Lesions via Decreased SECISBP2-Mediated Selenoprotein Expression in DA Rats, Exacerbated by Selenium Deficiency. 61
30596260 2021
8
Effects of methylation of deiodinase 3 gene on gene expression and severity of Kashin-Beck disease. 61
32458485 2020
9
Assessing the Health Loss from Kashin-Beck Disease and Its Relationship with Environmental Selenium in Qamdo District of Tibet, China. 61
33375039 2020
10
Kashin-Beck disease diagnosis based on deep learning from hand X-ray images. 61
33444784 2020
11
Comment on Liu et al.: a comparative study of clinical effect of total knee arthroplasty in the treatment of primary osteoarthritis and osteoarthritis of Kashin-Beck disease. 61
33057742 2020
12
LncRNA MIAT regulated by selenium and T-2 toxin increases NF-κB-p65 activation, promoting the progress of Kashin-Beck Disease. 61
33233966 2020
13
Prognostic factors for finger interphalangeal joint osteoarthritis: a systematic review. 61
33253392 2020
14
Serum Metabolomic Indicates Potential Biomarkers and Metabolic Pathways of Pediatric Kashin-Beck Disease. 61
33228834 2020
15
A comparative study of clinical effect of total knee arthroplasty in the treatment of primary osteoarthritis and osteoarthritis of Kashin-Beck disease. 61
32232536 2020
16
The integrative analysis of DNA methylation and mRNA expression profiles confirmed the role of selenocompound metabolism pathway in Kashin-Beck disease. 61
32816579 2020
17
The molecular mechanism study of COMP involved in the articular cartilage damage of Kashin-Beck disease. 61
33005397 2020
18
Magnetic resonance imaging at 7.0 T for evaluation of early lesions of epiphyseal plate and epiphyseal end in a rat model of Kashin-Beck disease. 61
32787885 2020
19
The role of selenium metabolism and selenoproteins in cartilage homeostasis and arthropathies. 61
32788658 2020
20
Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease. 61
32517548 2020
21
Roles of glycoprotein glycosylation in the pathogenesis of an endemic osteoarthritis, Kashin–Beck disease, and effectiveness evaluation of sodium hyaluronate treatment 61
31655502 2020
22
Inhibiting the aberrant activation of Wnt/β-catenin signaling by selenium supplementation ameliorates deoxynivalenol-induced toxicity and catabolism in chondrocytes. 61
31808557 2020
23
Endemic Kashin-Beck disease: A food-sourced osteoarthropathy. 61
31548049 2020
24
Proteomic analysis of knee cartilage reveals potential signaling pathways in pathological mechanism of Kashin-Beck disease compared with osteoarthritis. 61
32322000 2020
25
Abnormal expression of chondroitin sulfate sulfotransferases in the articular cartilage of pediatric patients with Kashin-Beck disease. 61
31845005 2020
26
Serious Selenium Deficiency in the Serum of Patients with Kashin-Beck Disease and the Effect of Nano-Selenium on Their Chondrocytes. 61
31175635 2020
27
Comparison of the responsiveness of the WOMAC and the 12-item WHODAS 2.0 in patients with Kashin-Beck disease. 61
32213176 2020
28
Comparison of the toxic mechanism of T-2 toxin and deoxynivalenol on human chondrocytes by microarray and bioinformatics analysis. 61
31863870 2020
29
ADAMTS4 and ADAMTS5 may be considered as new molecular therapeutic targets for cartilage damages with Kashin-Beck Disease. 61
31734379 2020
30
Screening for differentially expressed circRNA between Kashin-Beck disease and osteoarthritis patients based on circRNA chips. 61
31678276 2020
31
Relationship of the mobile forms of calcium and strontium in soils with their accumulation in meadow plants in the area of Kashin-Beck endemia. 61
31111334 2020
32
Expression and localization of the small proteoglycans decorin and biglycan in articular cartilage of Kashin-Beck disease and rats induced by T-2 toxin and selenium deficiency. 61
31478096 2019
33
[Stepwise treatment for knee lesion of adult Kashin-Beck disease]. 61
31870062 2019
34
The effectiveness of treatments for Kashin-Beck disease: a systematic review and network meta-analysis. 61
31376086 2019
35
DR4-Associated Death Receptor Signal Promotes Cartilage Damage in Patients With Kashin-Beck Disease. 61
31762289 2019
36
Cytotoxic Properties of HT-2 Toxin in Human Chondrocytes: Could T3 Inhibit Toxicity of HT-2? 61
31731600 2019
37
Selenium Content and/or T-2 Toxin Contamination of Cereals, Soil, and Children's Hair in Some Areas of Heilongjiang and Gansu Provinces, China. 61
30607701 2019
38
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. 61
30661165 2019
39
Association between DIO2 polymorphism and the risk of Kashin-Beck disease in the Tibetan population. 61
31433532 2019
40
The urinary levels of CTX-II, C2C, PYD, and Helix-II increased among adults with KBD: a cross-sectional study. 61
31639015 2019
41
The role of the fibroblast growth factor family in bone-related diseases. 61
31260189 2019
42
Prevention and control strategies for children Kashin-Beck disease in China: A systematic review and meta-analysis. 61
31490368 2019
43
A preliminary analysis of microRNA profiles in the subchondral bone between Kashin-Beck disease and primary knee osteoarthritis. 61
31062252 2019
44
Conservative tibiotalocalcaneal fusion for partial talar avascular necrosis in conjunction with ankle and subtalar joint osteoarthritis in Kashin-Beck disease: A case report: Erratum. 61
31441903 2019
45
Expression Profiles of Selenium-Related Genes in Human Chondrocytes Exposed to T-2 Toxin and Deoxynivalenol. 61
30406490 2019
46
Conservative tibiotalocalcaneal fusion for partial talar avascular necrosis in conjunction with ankle and subtalar joint osteoarthritis in Kashin-Beck disease: A case report. 61
31335683 2019
47
Genetic variants in the ITPR2 gene are associated with Kashin-Beck Disease in Tibetan. 61
31066235 2019
48
Hair multi-bioelement profile of Kashin-Beck disease in the endemic regions of China. 61
31109624 2019
49
Changes in the NF-κB signaling pathway in juvenile and adult patients with Kashin-Beck disease. 61
30951708 2019
50
Integrative Analysis of Genome-Wide Association Studies and DNA Methylation Profile Identified Genetic Control Genes of DNA Methylation for Kashin-Beck Disease. 61
31220921 2019

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 61)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.26 TNF IL1B GPX1 FAS BCL2 BAX
2
Show member pathways
13.25 TNF IL1B FAS BCL2 BAX
3
Show member pathways
13.11 TXNRD2 TNF IL1B FAS BCL2 BAX
4
Show member pathways
12.9 TNF IL1B FAS BCL2 BAX
5
Show member pathways
12.85 TNF FAS BCL2 BAX
6
Show member pathways
12.79 TNF IL1B FAS BCL2 BAX
7 12.71 TXNRD2 FAS BCL2 BAX
8
Show member pathways
12.63 TNF IL1B FAS BCL2 BAX
9 12.59 TNF IL1B FAS BCL2 BAX
10
Show member pathways
12.58 TNF FAS BCL2 BAX
11
Show member pathways
12.5 TNF IL1B FAS BCL2 BAX
12
Show member pathways
12.48 TNF IL1B BCL2 BAX
13
Show member pathways
12.47 TNF IL1B FAS BCL2
14 12.44 TNF IL1B GPX1 FAS
15
Show member pathways
12.33 IL1B BCL2 BAX
16 12.29 TNF IL1B BCL2 BAX
17
Show member pathways
12.27 FAS BCL2 BAX
18
Show member pathways
12.16 TNF IL1B BCL2
19
Show member pathways
12.14 FAS BCL2 BAX
20 12.13 TNF IL1B BCL2
21 12.13 TNF FAS BCL2 BAX
22 12.09 TNF IL1B BCL2 BAX
23
Show member pathways
12.08 TNF IL1B FAS
24 12.03 TNF IL1B FAS
25 11.99 TNF IL1B BCL2
26
Show member pathways
11.99 TNF FAS BCL2 BAX
27
Show member pathways
11.99 TXNRD2 TNF IL1B GPX1 DIO2
28
Show member pathways
11.94 TNF BCL2 BAX
29 11.92 TNF BCL2 BAX
30 11.9 TNF IL1B BCL2
31 11.88 TNF IL1B FAS
32 11.84 TNF IL1B BCL2
33 11.83 GPX1 FAS BCL2 BAX
34
Show member pathways
11.73 FAS BCL2 BAX
35 11.66 FAS BCL2 BAX
36 11.62 TNF IL1B BCL2 BAX
37
Show member pathways
11.58 TNF IL1B FAS BCL2 BAX
38 11.44 TNF IL1B BAX
39 11.4 TNF BCL2 BAX
40
Show member pathways
11.34 FAS BCL2 BAX
41 11.29 TNF IL1B FAS
42 11.27 TNF IL1B
43
Show member pathways
11.24 TNF FAS BCL2
44 11.23 TNF IL1B
45 11.21 TXNRD2 GPX1
46 11.21 TNF IL1B
47 11.18 TNF IL1B
48 11.16 BCL2 BAX
49 11.16 TNF BCL2 BAX
50 11.16 TNF FAS BCL2 BAX

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 all 43)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.97 IL1B FAS BCL2 BAX
2 regulation of apoptotic process GO:0042981 9.86 FAS BCL2 BAX
3 positive regulation of protein phosphorylation GO:0001934 9.83 TNF IL1B FAS
4 cell proliferation GO:0008283 9.8 GPX1 BCL2 BAX
5 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.76 TNF FAS BAX
6 response to toxic substance GO:0009636 9.75 GPX1 BCL2 BAX
7 apoptotic signaling pathway GO:0097190 9.72 TNF FAS BAX
8 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.69 GPX1 FAS
9 negative regulation of mitotic cell cycle GO:0045930 9.68 TNF BCL2
10 lipopolysaccharide-mediated signaling pathway GO:0031663 9.68 TNF IL1B
11 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.68 BCL2 BAX
12 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.68 TNF IL1B
13 regulation of mitochondrial membrane potential GO:0051881 9.67 BCL2 BAX
14 homeostasis of number of cells within a tissue GO:0048873 9.67 BCL2 BAX
15 negative regulation of neurogenesis GO:0050768 9.66 TNF IL1B
16 release of cytochrome c from mitochondria GO:0001836 9.65 BCL2 BAX
17 B cell homeostasis GO:0001782 9.65 BCL2 BAX
18 positive regulation of glial cell proliferation GO:0060252 9.65 TNF IL1B
19 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.65 TNF BCL2 BAX
20 negative regulation of lipid catabolic process GO:0050995 9.64 TNF IL1B
21 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.64 BCL2 BAX
22 apoptotic mitochondrial changes GO:0008637 9.63 BCL2 BAX
23 extrinsic apoptotic signaling pathway GO:0097191 9.63 TNF FAS BAX
24 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.62 TNF IL1B
25 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.62 TNF IL1B
26 positive regulation of neuroinflammatory response GO:0150078 9.61 TNF IL1B
27 regulation of establishment of endothelial barrier GO:1903140 9.61 TNF IL1B
28 response to salt stress GO:0009651 9.6 TNF BAX
29 necroptotic signaling pathway GO:0097527 9.59 TNF FAS
30 vascular endothelial growth factor production GO:0010573 9.57 TNF IL1B
31 leukocyte homeostasis GO:0001776 9.56 BCL2 BAX
32 regulation of mammary gland epithelial cell proliferation GO:0033599 9.54 GPX1 BAX
33 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.54 TNF IL1B BCL2
34 positive regulation of fever generation GO:0031622 9.52 TNF IL1B
35 sequestering of triglyceride GO:0030730 9.51 TNF IL1B
36 negative regulation of apoptotic signaling pathway GO:2001234 9.5 TNF BCL2 BAX
37 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.49 TNF IL1B
38 positive regulation of developmental pigmentation GO:0048087 9.43 BCL2 BAX
39 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.43 FAS BCL2 BAX
40 regulation of nitrogen utilization GO:0006808 9.4 BCL2 BAX
41 cellular response to organic substance GO:0071310 9.33 IL1B BCL2 BAX
42 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.13 TNF BCL2 BAX
43 response to gamma radiation GO:0010332 8.8 GPX1 BCL2 BAX

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

# Name GO ID Score Top Affiliating Genes
1 channel activity GO:0015267 8.96 BCL2 BAX
2 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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