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 14

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 G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins. 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 NF1 ADAMTS5 ROBO3 BMP2 SELENON COL2A1
2 cardiovascular system MP:0005385 9.97 NF1 BMP2 SH3TC2 COL2A1 FTH1 SOX9
3 limbs/digits/tail MP:0005371 9.81 ADAMTS5 BMP2 COL2A1 SOX9 GDF5 TBX6
4 nervous system MP:0003631 9.65 NF1 ROBO3 BMP2 SH3TC2 COL2A1 FTH1
5 skeleton MP:0005390 9.36 NF1 ADAMTS5 BMP2 SELENON SH3TC2 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:

38
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 region GO:0005576 9.91 ACAN ADAMTS5 BMP2 COL2A1 COL9A3 FTH1
2 extracellular space GO:0005615 9.76 ACAN ADAMTS5 BMP2 CILP COL2A1 GDF5
3 collagen trimer GO:0005581 9.5 COL2A1 COL9A3 MMP13
4 extracellular matrix GO:0031012 9.35 ACAN CILP COL2A1 MMP13 MMP3
5 proteinaceous extracellular matrix GO:0005578 9.17 ACAN ADAMTS5 CILP COL2A1 COL9A3 MMP13

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.91 BMP2 FTH1 LBX1 NF1 SOX9
2 heart development GO:0007507 9.85 ACAN BMP2 NF1 SOX9
3 central nervous system development GO:0007417 9.81 ACAN COL2A1 SOX9
4 ossification GO:0001503 9.74 BMP2 COL2A1 SOX9
5 skeletal system development GO:0001501 9.71 ACAN BMP2 COL2A1 SOX9
6 collagen catabolic process GO:0030574 9.67 COL2A1 MMP13 MMP3
7 extracellular matrix organization GO:0030198 9.65 ACAN COL2A1 COL9A3 NF1 SOX9
8 cartilage condensation GO:0001502 9.63 COL2A1 SOX9
9 positive regulation of chondrocyte differentiation GO:0032332 9.62 GDF5 SOX9
10 tissue homeostasis GO:0001894 9.62 COL2A1 SOX9
11 negative regulation of chondrocyte differentiation GO:0032331 9.61 GDF5 SOX9
12 cell fate specification GO:0001708 9.61 SOX9 TBX6
13 chondrocyte development GO:0002063 9.6 ACAN SOX9
14 positive regulation of cartilage development GO:0061036 9.59 BMP2 SOX9
15 endocardial cushion morphogenesis GO:0003203 9.58 BMP2 SOX9
16 myelination in peripheral nervous system GO:0022011 9.58 NF1 SH3TC2
17 limb bud formation GO:0060174 9.56 COL2A1 SOX9
18 notochord development GO:0030903 9.54 COL2A1 SOX9
19 collagen fibril organization GO:0030199 9.54 ACAN COL2A1 NF1
20 negative regulation of insulin-like growth factor receptor signaling pathway GO:0043569 9.52 BMP2 CILP
21 cellular response to BMP stimulus GO:0071773 9.5 BMP2 COL2A1 SOX9
22 proteoglycan metabolic process GO:0006029 9.48 BMP2 COL2A1
23 otic vesicle development GO:0071599 9.46 COL2A1 SOX9
24 extracellular matrix disassembly GO:0022617 9.46 ACAN ADAMTS5 MMP13 MMP3
25 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.43 GDF5 SOX9
26 chondrocyte differentiation GO:0002062 9.26 BMP2 COL2A1 GDF5 SOX9
27 cartilage development GO:0051216 9.02 BMP2 COL2A1 GDF5 MMP13 SOX9

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

# Name GO ID Score Top Affiliating Genes
1 metalloendopeptidase activity GO:0004222 9.13 ADAMTS5 MMP13 MMP3
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL2A1 COL9A3

Sources for Bone Structure Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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