MCID: BND004
MIFTS: 24

Bone Deterioration Disease

Categories: Bone diseases

Aliases & Classifications for Bone Deterioration Disease

MalaCards integrated aliases for Bone Deterioration Disease:

Name: Bone Deterioration Disease 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080007

Summaries for Bone Deterioration Disease

Disease Ontology : 12 A bone structure disease that results in change or damage of structure located in bone.

MalaCards based summary : Bone Deterioration Disease is related to spinal stenosis and degenerative disc disease. An important gene associated with Bone Deterioration Disease is ACAN (Aggrecan), and among its related pathways/superpathways are Phospholipase-C Pathway and Collagen chain trimerization. Affiliated tissues include bone, and related phenotypes are limbs/digits/tail and skeleton

Related Diseases for Bone Deterioration Disease

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

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 spinal stenosis 31.2 RPL34 MMP3 MMP13 LSS COL9A3 COL9A2
2 degenerative disc disease 30.1 SOX9 RPL34 MMP3 MMP13 MIR96 MIR146A
3 hydrarthrosis 10.5 MMP3 ADAMTS5
4 facial hemiatrophy 10.5 ADAMTS4 ADAMTS3
5 tooth ankylosis 10.5 GDF5 BMP2
6 avascular necrosis 10.5 COL2A1 BMP2
7 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.5 COL9A3 COL9A2
8 coxa vara 10.4 MMP13 COL2A1
9 kashin-beck disease 10.4 IL1B COL2A1
10 multiple epiphyseal dysplasia, autosomal dominant 10.4 COL9A3 COL9A2
11 achondroplasia 10.4 SOX9 COL2A1 ACAN
12 discitis 10.4 RPL34 FTH1 ACAN
13 cleidocranial dysplasia 10.4 SOX9 MMP13 ACAN
14 epiphyseal dysplasia, multiple, 6 10.4 COL9A3 COL9A2
15 enchondromatosis, multiple, ollier type 10.4 MMP13 COL2A1 ACAN
16 autosomal recessive stickler syndrome 10.4 COL9A3 COL9A2
17 brachyolmia 10.4 SOX9 COL2A1 ACAN
18 hypochondrogenesis 10.4 COL9A2 COL2A1 ACAN
19 dyssegmental dysplasia, silverman-handmaker type 10.4 COL2A1 BMP2
20 epiphyseal dysplasia, multiple, 3 10.4 COL9A3 COL9A2
21 ischemic bone disease 10.4 COL2A1 BMP2 ACAN
22 brachydactyly, type a1, b 10.4 GDF5 BMP2
23 scheuermann disease 10.4 RPL34 COL9A3 COL2A1
24 spondylosis 10.4 RPL34 IL1B BMP2
25 arachnoiditis 10.4 RPL34 FTH1
26 synovial chondromatosis 10.4 SOX9 COL2A1 BMP2
27 frozen shoulder 10.4 MMP3 IL1B GDF5
28 vitreoretinal degeneration 10.4 COL9A2 COL2A1
29 osteochondrosis 10.4 COL9A3 COL2A1 ACAN
30 epiphyseal dysplasia, multiple, 5 10.4 COL9A3 COL9A2
31 exostosis 10.4 RPL34 GDF5 BMP2 ACAN
32 spinal disease 10.4 RPL34 FTH1 BMP2
33 chondrodysplasia, grebe type 10.3 GDF5 COL2A1
34 back pain 10.3 COL9A3 COL9A2 CILP
35 brittle bone disorder 10.3 COL2A1 BMP2 ACAN
36 vitreous syneresis 10.3 COL9A3 COL9A2 COL2A1
37 otospondylomegaepiphyseal dysplasia 10.3 COL9A3 COL9A2 COL2A1
38 kniest dysplasia 10.3 COL9A3 COL9A2 COL2A1
39 epiphyseal dysplasia, multiple, 2 10.3 COL9A3 COL9A2
40 tympanosclerosis 10.3 COL2A1 BMP2
41 chromosome 2q35 duplication syndrome 10.3 SOX9 GDF5 BMP2
42 periodontitis 10.3 MMP3 MMP13 MIR146A IL1B
43 simpson-golabi-behmel syndrome, type 1 10.3 COL2A1 ACAN
44 epiphyseal dysplasia, multiple, 1 10.3 COL9A3 COL9A2
45 tracheomalacia 10.3 SOX9 COL2A1
46 campomelic dysplasia 10.3 SOX9 COL9A2 COL2A1 ACAN
47 spondylolysis 10.3 RPL34 GDF5 FTH1 BMP2
48 achondrogenesis 10.2 COL9A3 COL9A2 COL2A1 ACAN
49 achondrogenesis, type ii 10.2 COL2A1 ACAN
50 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2 COL9A3 COL9A2 COL2A1 ACAN

Graphical network of the top 20 diseases related to Bone Deterioration Disease:



Diseases related to Bone Deterioration Disease

Symptoms & Phenotypes for Bone Deterioration Disease

MGI Mouse Phenotypes related to Bone Deterioration Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.5 ADAMTS5 BMP2 COL2A1 COL9A2 GDF5 MMP13
2 skeleton MP:0005390 9.36 ADAMTS3 ADAMTS4 ADAMTS5 BMP2 COL2A1 COL9A2

Drugs & Therapeutics for Bone Deterioration Disease

Search Clinical Trials , NIH Clinical Center for Bone Deterioration Disease

Genetic Tests for Bone Deterioration Disease

Anatomical Context for Bone Deterioration Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Bone Deterioration Disease:

19
Bone

MalaCards organs/tissues related to Bone Deterioration Disease:

40
Bone

Publications for Bone Deterioration Disease

Variations for Bone Deterioration Disease

Expression for Bone Deterioration Disease

Search GEO for disease gene expression data for Bone Deterioration Disease.

Pathways for Bone Deterioration Disease

Pathways related to Bone Deterioration Disease according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 GDF5 COL9A3 COL9A2 COL2A1 BMP2 ACAN
2
Show member pathways
12.57 MMP3 MMP13 COL9A3 COL9A2 COL2A1 ADAMTS3
3
Show member pathways
12.02 MMP3 MMP13 GDF5 COL9A3 COL9A2 COL2A1
4
Show member pathways
11.87 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
5 11.7 SOX9 IL1B COL2A1 ACAN
6
Show member pathways
11.65 MMP3 IL1B ADAMTS5 ADAMTS4 ACAN
7
Show member pathways
11.55 ADAMTS5 ADAMTS4 ADAMTS3
8 11.42 MMP3 MMP13 COL2A1
9 11.36 COL9A3 COL9A2 ACAN
10 11.25 SOX9 MMP13 COL2A1 ADAMTS5 ADAMTS4 ACAN
11 10.7 IL1B GDF5 COL9A3 COL9A2 COL2A1 BMP2

GO Terms for Bone Deterioration Disease

Cellular components related to Bone Deterioration Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10 MMP3 MMP13 IL1B GDF5 FTH1 COL9A3
2 collagen-containing extracellular matrix GO:0062023 9.86 COL9A3 COL9A2 COL2A1 CILP ADAMTS5 ADAMTS4
3 extracellular space GO:0005615 9.77 MMP3 MMP13 MIR146A IL1B GDF5 COL9A3
4 endoplasmic reticulum lumen GO:0005788 9.71 COL9A3 COL9A2 COL2A1 ADAMTS5
5 collagen trimer GO:0005581 9.62 MMP13 COL9A3 COL9A2 COL2A1
6 collagen type IX trimer GO:0005594 9.37 COL9A3 COL9A2
7 extracellular matrix GO:0031012 9.23 MMP3 MMP13 COL9A3 COL9A2 COL2A1 ADAMTS5

Biological processes related to Bone Deterioration Disease according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.97 MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
2 negative regulation of gene expression GO:0010629 9.88 SOX9 MIR146A CILP BMP2
3 positive regulation of neuron differentiation GO:0045666 9.77 MIR146A GDF5 BMP2
4 ossification GO:0001503 9.75 SOX9 COL2A1 BMP2
5 collagen fibril organization GO:0030199 9.65 COL2A1 ADAMTS3 ACAN
6 negative regulation of chondrocyte differentiation GO:0032331 9.62 SOX9 GDF5
7 chondrocyte development GO:0002063 9.62 SOX9 ACAN
8 endocardial cushion morphogenesis GO:0003203 9.61 SOX9 BMP2
9 positive regulation of cartilage development GO:0061036 9.61 SOX9 BMP2
10 collagen catabolic process GO:0030574 9.61 MMP3 MMP13 ADAMTS3
11 response to amyloid-beta GO:1904645 9.6 MMP3 MMP13
12 chondrocyte differentiation GO:0002062 9.58 SOX9 COL2A1 BMP2
13 limb bud formation GO:0060174 9.57 SOX9 COL2A1
14 notochord development GO:0030903 9.56 SOX9 COL2A1
15 extracellular matrix disassembly GO:0022617 9.56 MMP3 MMP13 ADAMTS5 ADAMTS4
16 negative regulation of insulin-like growth factor receptor signaling pathway GO:0043569 9.55 CILP BMP2
17 cartilage development GO:0051216 9.55 SOX9 MMP13 GDF5 COL2A1 BMP2
18 proteoglycan metabolic process GO:0006029 9.54 COL2A1 BMP2
19 cellular response to BMP stimulus GO:0071773 9.54 SOX9 COL2A1 BMP2
20 otic vesicle development GO:0071599 9.52 SOX9 COL2A1
21 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.51 SOX9 GDF5
22 cartilage condensation GO:0001502 9.5 SOX9 COL2A1 ACAN
23 anterior head development GO:0097065 9.46 SOX9 COL2A1
24 skeletal system development GO:0001501 9.43 SOX9 COL9A2 COL2A1 BMP2 ADAMTS4 ACAN
25 extracellular matrix organization GO:0030198 9.17 SOX9 MMP3 MMP13 COL9A3 COL9A2 COL2A1

Molecular functions related to Bone Deterioration Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.72 MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3
2 metallopeptidase activity GO:0008237 9.55 MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.43 COL9A3 COL9A2 COL2A1
4 extracellular matrix structural constituent GO:0005201 9.35 COL9A3 COL9A2 COL2A1 CILP ACAN
5 metalloendopeptidase activity GO:0004222 9.02 MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3

Sources for Bone Deterioration Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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