MCID: BND004
MIFTS: 29

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 degenerative disc disease and spinal stenosis. An important gene associated with Bone Deterioration Disease is IVD (Isovaleryl-CoA Dehydrogenase), and among its related pathways/superpathways are ERK Signaling and Phospholipase-C Pathway. Affiliated tissues include bone, lung and lymph node, 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 53)
# Related Disease Score Top Affiliating Genes
1 degenerative disc disease 31.3 ACAN BMP2 COL9A3 GDF5 SOX9
2 spinal stenosis 30.4 ACAN BMP7 COL2A1 COL9A2 COL9A3 MMP3
3 bone chondrosarcoma 10.3 ACAN MMP13
4 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.2 COL9A2 COL9A3
5 polyradiculopathy 10.2 ACAN BMP2 IVD
6 pierre robin syndrome 10.2 RPS17 SOX9
7 rheumatoid lung disease 10.1 IL1B MMP3
8 achondrogenesis, type ia 10.1 ACAN COL2A1
9 chondrosarcoma 10.1 MMP13 MMP3 SOX9
10 autosomal recessive stickler syndrome 10.1 COL9A2 COL9A3
11 epiphyseal dysplasia, multiple, 2 10.1 COL9A2 COL9A3
12 epiphyseal dysplasia, multiple, 3 10.1 COL9A2 COL9A3
13 brachydactyly, type a2 10.1 BMP2 GDF5 MMP3
14 scheuermann disease 10.1 COL2A1 COL9A3
15 stapes ankylosis with broad thumbs and toes 10.1 BMP7 CILP
16 epiphyseal dysplasia, multiple, 4 10.1 COL9A2 COL9A3
17 hydrarthrosis 10.1 IL1B MMP13 MMP3
18 pseudoarthrosis 10.1 BMP2 BMP7
19 epiphyseal dysplasia, multiple, 5 10.1 COL9A2 COL9A3
20 coxa vara 10.1 COL2A1 MMP13
21 frozen shoulder 10.1 GDF5 IL1B MMP3
22 synovitis 10.1 IL1B MMP13 MMP3
23 cartilage disease 10.1 ACAN COL2A1
24 epiphyseal dysplasia, multiple, 1 10.1 ACAN COL9A2 COL9A3
25 pseudoachondroplasia 10.1 ACAN COL9A2 COL9A3
26 achondrogenesis 10.1 COL2A1 COL9A2
27 tympanosclerosis 10.1 BMP2 COL2A1
28 ischemic bone disease 10.1 ACAN BMP2 COL2A1
29 simpson-golabi-behmel syndrome, type 1 10.1 ACAN COL2A1
30 synovial chondromatosis 10.1 BMP2 COL2A1 SOX9
31 brachydactyly 10.0 BMP2 COL2A1 GDF5
32 atelosteogenesis 10.0 COL9A2 IVD
33 vitreoretinal degeneration 10.0 COL2A1 COL9A2
34 stickler syndrome 10.0 COL2A1 COL9A2 COL9A3
35 sorsby fundus dystrophy 10.0 MMP13 MMP3 TIMP1
36 bone development disease 10.0 COL2A1 COL9A2 GDF5 SOX9
37 osteonecrosis 9.9 BMP2 BMP7 COL2A1
38 corneal ulcer 9.9 IL1B MMP3
39 multiple epiphyseal dysplasia 9.9 ACAN COL2A1 COL9A2 COL9A3
40 intervertebral disc disease 9.9 CILP COL9A2 COL9A3 IL1B
41 spondylolysis 9.9 BMP7 FTH1 GDF5
42 conjunctivochalasis 9.9 MMP3 TIMP1
43 joint disorders 9.9 IL1B MMP3 TIMP1
44 arthritis 9.9 ACAN COL2A1 IL1B MMP13 MMP3
45 periodontitis 9.9 IL1B MMP3 TIMP1
46 periodontal disease 9.9 IL1B MMP3 TIMP1
47 aortic aneurysm, familial abdominal, 1 9.8 IL1B MMP13 MMP3 TIMP1
48 osteochondritis dissecans 9.7 ACAN BMP7 COL9A2 COL9A3 MMP13 MMP3
49 bone disease 9.7 ACAN BMP7 COL2A1 GDF5 IL1B MMP13
50 spondylolisthesis 9.6 BMP2 BMP7 FTH1 GDF5 IVD MMP3

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.56 BMP2 BMP7 COL2A1 COL9A2 GDF5 MMP13
2 skeleton MP:0005390 9.32 BMP2 BMP7 COL2A1 COL9A2 GDF5 IL1B

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

MalaCards organs/tissues related to Bone Deterioration Disease:

41
Bone, Lung, Lymph Node

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

19
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 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 ACAN BMP2 BMP7 COL2A1 COL9A2 COL9A3
2
Show member pathways
12.75 ACAN BMP2 BMP7 COL2A1 COL9A2 COL9A3
3
Show member pathways
12.67 COL2A1 COL9A2 COL9A3 MMP13 MMP3
4
Show member pathways
12.51 BMP2 BMP7 GDF5 IL1B TIMP1
5
Show member pathways
12.04 BMP2 BMP7 GDF5 IL1B TIMP1
6
Show member pathways
11.98 ACAN BMP2 BMP7 COL2A1 COL9A2 COL9A3
7
Show member pathways
11.97 COL2A1 COL9A2 COL9A3
8
Show member pathways
11.97 ACAN COL2A1 COL9A2 COL9A3 IL1B MMP13
9
Show member pathways
11.88 ACAN IL1B MMP3
10
Show member pathways
11.87 BMP2 BMP7 GDF5 IL1B TIMP1
11 11.83 IL1B MMP3 TIMP1
12 11.78 ACAN COL2A1 IL1B SOX9
13 11.77 BMP7 COL2A1 SOX9
14
Show member pathways
11.75 MMP13 MMP3 TIMP1
15 11.69 MMP13 MMP3 TIMP1
16 11.66 BMP2 BMP7 GDF5
17 11.58 BMP2 BMP7 GDF5 TIMP1
18
Show member pathways
11.58 BMP2 BMP7 GDF5
19 11.5 BMP7 IL1B TIMP1
20 11.45 COL2A1 MMP13 MMP3 TIMP1
21 11.44 ACAN COL9A2 COL9A3
22 11.37 ACAN BMP7 COL2A1 MMP13 SOX9
23 11.03 BMP2 BMP7
24 11.03 IL1B TIMP1
25 10.96 BMP2 BMP7
26 10.93 BMP2 COL2A1
27 10.51 ACAN BMP2 BMP7 COL2A1 COL9A2 COL9A3

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 space GO:0005615 9.9 BMP2 BMP7 CILP COL2A1 COL9A2 COL9A3
2 endoplasmic reticulum lumen GO:0005788 9.73 COL2A1 COL9A2 COL9A3 TIMP1
3 collagen-containing extracellular matrix GO:0062023 9.71 ACAN BMP7 CILP COL2A1
4 basement membrane GO:0005604 9.62 ACAN COL2A1 COL9A2 TIMP1
5 collagen trimer GO:0005581 9.56 COL2A1 COL9A2 COL9A3 MMP13
6 extracellular matrix GO:0031012 9.5 ACAN COL2A1 COL9A2 COL9A3 MMP13 MMP3
7 extracellular region GO:0005576 9.44 ACAN BMP2 BMP7 CILP COL2A1 COL9A2
8 collagen type IX trimer GO:0005594 9.37 COL9A2 COL9A3

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.95 BMP2 BMP7 GDF5 SOX9
2 negative regulation of cell proliferation GO:0008285 9.95 BMP2 BMP7 FTH1 IL1B SOX9
3 central nervous system development GO:0007417 9.85 ACAN COL2A1 SOX9
4 positive regulation of neuron differentiation GO:0045666 9.83 BMP2 BMP7 GDF5
5 BMP signaling pathway GO:0030509 9.81 BMP2 BMP7 GDF5
6 extracellular matrix disassembly GO:0022617 9.77 MMP13 MMP3 TIMP1
7 cell development GO:0048468 9.76 BMP2 BMP7 GDF5
8 regulation of MAPK cascade GO:0043408 9.75 BMP2 BMP7 GDF5
9 response to peptide hormone GO:0043434 9.74 BMP7 IL1B TIMP1
10 SMAD protein signal transduction GO:0060395 9.73 BMP2 BMP7 GDF5
11 extracellular matrix organization GO:0030198 9.72 ACAN COL2A1 COL9A2 COL9A3 SOX9
12 ossification GO:0001503 9.71 BMP2 BMP7 COL2A1 SOX9
13 negative regulation of neurogenesis GO:0050768 9.69 BMP7 IL1B
14 positive regulation of chondrocyte differentiation GO:0032332 9.68 GDF5 SOX9
15 tissue homeostasis GO:0001894 9.68 COL2A1 SOX9
16 response to vitamin D GO:0033280 9.68 BMP7 IL1B
17 negative regulation of chondrocyte differentiation GO:0032331 9.67 GDF5 SOX9
18 chondrocyte development GO:0002063 9.67 ACAN SOX9
19 endocardial cushion morphogenesis GO:0003203 9.67 BMP2 SOX9
20 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.67 BMP2 BMP7 GDF5
21 positive regulation of cartilage development GO:0061036 9.66 BMP2 SOX9
22 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.66 BMP7 IL1B
23 positive regulation of astrocyte differentiation GO:0048711 9.65 BMP2 IL1B
24 positive regulation of epithelial to mesenchymal transition GO:0010718 9.65 BMP2 BMP7 IL1B
25 limb bud formation GO:0060174 9.64 COL2A1 SOX9
26 notochord development GO:0030903 9.64 COL2A1 SOX9
27 embryonic skeletal joint morphogenesis GO:0060272 9.63 BMP7 COL2A1
28 epithelial to mesenchymal transition GO:0001837 9.63 BMP2 BMP7 SOX9
29 mesenchymal cell differentiation GO:0048762 9.62 BMP2 BMP7
30 negative regulation of insulin-like growth factor receptor signaling pathway GO:0043569 9.62 BMP2 CILP
31 proteoglycan metabolic process GO:0006029 9.61 BMP2 COL2A1
32 otic vesicle development GO:0071599 9.61 COL2A1 SOX9
33 chondrocyte differentiation GO:0002062 9.56 BMP2 COL2A1 GDF5 SOX9
34 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.54 GDF5 SOX9
35 cartilage condensation GO:0001502 9.54 ACAN COL2A1 SOX9
36 anterior head development GO:0097065 9.52 COL2A1 SOX9
37 mesenchyme development GO:0060485 9.51 BMP2 BMP7
38 cellular response to BMP stimulus GO:0071773 9.46 BMP2 BMP7 COL2A1 SOX9
39 monocyte aggregation GO:0070487 9.43 BMP7 IL1B
40 skeletal system development GO:0001501 9.43 ACAN BMP2 BMP7 COL2A1 COL9A2 SOX9
41 cartilage development GO:0051216 9.17 BMP2 BMP7 COL2A1 GDF5 MMP13 SOX9
42 regulation of signaling receptor activity GO:0010469 10 BMP2 BMP7 GDF5 IL1B TIMP1

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.62 BMP2 BMP7 GDF5 TIMP1
2 transforming growth factor beta receptor binding GO:0005160 9.43 BMP2 BMP7 GDF5
3 BMP receptor binding GO:0070700 9.37 BMP2 BMP7
4 cytokine activity GO:0005125 9.35 BMP2 BMP7 GDF5 IL1B TIMP1
5 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.33 COL2A1 COL9A2 COL9A3
6 extracellular matrix structural constituent GO:0005201 9.02 ACAN CILP COL2A1 COL9A2 COL9A3

Sources for Bone Deterioration 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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