MCID: BNS002
MIFTS: 23

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 ACAN (Aggrecan), and among its related pathways/superpathways are Degradation of the extracellular matrix and Diseases of glycosylation. Affiliated tissues include bone, and related phenotypes are no effect and cellular

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

GenomeRNAi Phenotypes related to Bone Structure Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ACAN ADAMTS3 ADAMTS4 ADAMTS5 ADGRG6 BMP2

MGI Mouse Phenotypes related to Bone Structure Disease:

46
# 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 mortality/aging MP:0010768 10 ADAMTS3 ADAMTS4 ADGRG6 BMP2 COL2A1 FTH1
4 embryo MP:0005380 9.97 ADAMTS3 BMP2 COL2A1 NF1 PES1 ROBO3
5 limbs/digits/tail MP:0005371 9.86 ADAMTS5 BMP2 COL2A1 GDF5 MMP13 NF1
6 hearing/vestibular/ear MP:0005377 9.8 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:

41
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 9.91 MMP3 MMP13 GDF5 COL2A1 CILP BMP2
2 extracellular region GO:0005576 9.7 MMP3 MMP13 GDF5 FTH1 COL2A1 CILP
3 collagen-containing extracellular matrix GO:0062023 9.55 COL2A1 CILP ADAMTS5 ADAMTS3 ACAN
4 extracellular matrix GO:0031012 9.1 MMP3 MMP13 COL2A1 ADAMTS5 ADAMTS3 ACAN

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.88 SOX9 NF1 BMP2 ACAN
2 extracellular matrix organization GO:0030198 9.86 SOX9 NF1 COL2A1 ACAN
3 central nervous system development GO:0007417 9.81 SOX9 COL2A1 ACAN
4 ossification GO:0001503 9.77 SOX9 COL2A1 BMP2
5 regulation of MAPK cascade GO:0043408 9.69 NF1 GDF5 BMP2
6 skeletal system development GO:0001501 9.65 SOX9 COL2A1 BMP2 ADAMTS4 ACAN
7 tissue homeostasis GO:0001894 9.64 SOX9 COL2A1
8 positive regulation of chondrocyte differentiation GO:0032332 9.64 SOX9 GDF5
9 cell fate specification GO:0001708 9.63 TBX6 SOX9
10 collagen catabolic process GO:0030574 9.63 MMP3 MMP13 ADAMTS3
11 negative regulation of chondrocyte differentiation GO:0032331 9.62 SOX9 GDF5
12 endocardial cushion morphogenesis GO:0003203 9.62 SOX9 BMP2
13 extracellular matrix disassembly GO:0022617 9.62 MMP3 MMP13 ADAMTS5 ADAMTS4
14 chondrocyte development GO:0002063 9.61 SOX9 ACAN
15 positive regulation of cartilage development GO:0061036 9.61 SOX9 BMP2
16 cellular response to BMP stimulus GO:0071773 9.61 SOX9 COL2A1 BMP2
17 notochord development GO:0030903 9.59 SOX9 COL2A1
18 limb bud formation GO:0060174 9.58 SOX9 COL2A1
19 cartilage condensation GO:0001502 9.58 SOX9 COL2A1 ACAN
20 negative regulation of insulin-like growth factor receptor signaling pathway GO:0043569 9.57 CILP BMP2
21 proteoglycan metabolic process GO:0006029 9.55 COL2A1 BMP2
22 myelination in peripheral nervous system GO:0022011 9.54 SH3TC2 NF1 ADGRG6
23 otic vesicle development GO:0071599 9.52 SOX9 COL2A1
24 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.49 SOX9 GDF5
25 anterior head development GO:0097065 9.48 SOX9 COL2A1
26 collagen fibril organization GO:0030199 9.46 NF1 COL2A1 ADAMTS3 ACAN
27 chondrocyte differentiation GO:0002062 9.13 SOX9 COL2A1 BMP2
28 cartilage development GO:0051216 9.02 SOX9 MMP13 GDF5 COL2A1 BMP2
29 proteolysis GO:0006508 10.01 MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3 ACAN

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 MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3
2 extracellular matrix structural constituent GO:0005201 9.43 COL2A1 CILP ACAN
3 metallopeptidase activity GO:0008237 9.35 MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3
4 metalloendopeptidase activity GO:0004222 9.02 MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3

Sources for Bone Structure 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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