MCID: BNS002
MIFTS: 26

Bone Structure Disease

Categories: Bone diseases

Aliases & Classifications for Bone Structure Disease

MalaCards integrated aliases for Bone Structure Disease:

Name: Bone Structure Disease 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080010

Summaries for Bone Structure Disease

Disease Ontology : 12 A bone disease that has material basis in an abnormality in the location or function of the skeletal structure.

MalaCards based summary : Bone Structure Disease is related to spondylolysis and spondylolisthesis. An important gene associated with Bone Structure Disease is IVD (Isovaleryl-CoA Dehydrogenase), and among its related pathways/superpathways are Degradation of the extracellular matrix and Diseases of glycosylation. Affiliated tissues include bone, and related phenotypes are cellular and cardiovascular system

Related Diseases for Bone Structure Disease

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



Diseases related to Bone Structure Disease

Symptoms & Phenotypes for Bone Structure Disease

MGI Mouse Phenotypes related to Bone Structure Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.14 ADAMTS3 ADAMTS5 ADGRG6 BMP2 COL2A1 FTH1
2 cardiovascular system MP:0005385 10.13 ADAMTS3 ADGRG6 BMP2 COL2A1 FTH1 MMP13
3 homeostasis/metabolism MP:0005376 10.1 ADAMTS3 ADGRG6 BMP2 COL2A1 FTH1 IVD
4 mortality/aging MP:0010768 10 ADAMTS3 ADAMTS4 ADGRG6 BMP2 COL2A1 FTH1
5 limbs/digits/tail MP:0005371 9.86 ADAMTS5 BMP2 COL2A1 GDF5 MMP13 NF1
6 hearing/vestibular/ear MP:0005377 9.85 ADAMTS3 BMP2 COL2A1 NF1 ROBO3 SOX9
7 nervous system MP:0003631 9.73 ADAMTS3 ADAMTS4 ADGRG6 BMP2 COL2A1 FTH1
8 skeleton MP:0005390 9.44 ADAMTS3 ADAMTS4 ADAMTS5 ADGRG6 BMP2 COL2A1

Drugs & Therapeutics for Bone Structure Disease

Search Clinical Trials , NIH Clinical Center for Bone Structure Disease

Genetic Tests for Bone Structure Disease

Anatomical Context for Bone Structure Disease

MalaCards organs/tissues related to Bone Structure Disease:

42
Bone

Publications for Bone Structure Disease

Variations for Bone Structure Disease

Expression for Bone Structure Disease

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

Pathways for Bone Structure Disease

GO Terms for Bone Structure Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.76 ADAMTS3 ADAMTS4 ADAMTS5 BMP2 COL2A1 GDF5
2 extracellular region GO:0005576 9.65 ACAN ADAMTS3 ADAMTS4 ADAMTS5 BMP2 COL2A1
3 collagen-containing extracellular matrix GO:0062023 9.56 ACAN ADAMTS3 ADAMTS5 COL2A1
4 extracellular matrix GO:0031012 9.1 ACAN ADAMTS3 ADAMTS5 COL2A1 MMP13 MMP3

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.87 ACAN BMP2 NF1 SOX9
2 extracellular matrix organization GO:0030198 9.86 ACAN COL2A1 NF1 SOX9
3 central nervous system development GO:0007417 9.8 ACAN COL2A1 SOX9
4 ossification GO:0001503 9.77 BMP2 COL2A1 SOX9
5 regulation of MAPK cascade GO:0043408 9.7 BMP2 GDF5 NF1
6 skeletal system development GO:0001501 9.65 ACAN ADAMTS4 BMP2 COL2A1 SOX9
7 positive regulation of chondrocyte differentiation GO:0032332 9.64 GDF5 SOX9
8 tissue homeostasis GO:0001894 9.63 COL2A1 SOX9
9 cellular response to BMP stimulus GO:0071773 9.63 BMP2 COL2A1 SOX9
10 cell fate specification GO:0001708 9.62 SOX9 TBX6
11 negative regulation of chondrocyte differentiation GO:0032331 9.62 GDF5 SOX9
12 extracellular matrix disassembly GO:0022617 9.62 ADAMTS4 ADAMTS5 MMP13 MMP3
13 chondrocyte development GO:0002063 9.61 ACAN SOX9
14 endocardial cushion morphogenesis GO:0003203 9.61 BMP2 SOX9
15 collagen catabolic process GO:0030574 9.61 ADAMTS3 MMP13 MMP3
16 positive regulation of cartilage development GO:0061036 9.6 BMP2 SOX9
17 limb bud formation GO:0060174 9.58 COL2A1 SOX9
18 notochord development GO:0030903 9.58 COL2A1 SOX9
19 cartilage condensation GO:0001502 9.58 ACAN COL2A1 SOX9
20 proteoglycan metabolic process GO:0006029 9.55 BMP2 COL2A1
21 myelination in peripheral nervous system GO:0022011 9.54 ADGRG6 NF1 SH3TC2
22 otic vesicle development GO:0071599 9.51 COL2A1 SOX9
23 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.49 GDF5 SOX9
24 anterior head development GO:0097065 9.48 COL2A1 SOX9
25 collagen fibril organization GO:0030199 9.46 ACAN ADAMTS3 COL2A1 NF1
26 chondrocyte differentiation GO:0002062 9.13 BMP2 COL2A1 SOX9
27 cartilage development GO:0051216 9.02 BMP2 COL2A1 GDF5 MMP13 SOX9
28 proteolysis GO:0006508 10.01 ACAN ADAMTS3 ADAMTS4 ADAMTS5 MMP13 MMP3

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.55 ADAMTS3 ADAMTS4 ADAMTS5 MMP13 MMP3
2 metallopeptidase activity GO:0008237 9.35 ADAMTS3 ADAMTS4 ADAMTS5 MMP13 MMP3
3 metalloendopeptidase activity GO:0004222 9.02 ADAMTS3 ADAMTS4 ADAMTS5 MMP13 MMP3

Sources for Bone Structure Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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