MCID: BNS002
MIFTS: 25

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 Spinal Cord Injury. Affiliated tissues include bone, and related phenotypes are behavior/neurological and cellular

Related Diseases for Bone Structure Disease

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

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 spondylolysis 32.1 GDF5 BMP2 ACAN
2 spondylolisthesis 32.1 MMP3 GDF5 BMP2 ACAN
3 bone deterioration disease 31.5 SOX9 MMP3 MMP13 MIR486-1 GDF5 COL2A1
4 scoliosis 31.5 TBX6 SOX9 ROBO3 NF1 MMP3 MMP13
5 spondylosis 11.0
6 coronary artery aneurysm 10.5 MMP3 MMP13
7 exotropia 10.4 ROBO3 FBN1 ACAN
8 enchondromatosis, multiple, ollier type 10.4 MMP13 COL2A1 ACAN
9 coxa vara 10.4 MMP13 COL2A1
10 achondrogenesis, type ii 10.4 GDF5 COL2A1 ACAN
11 orbital disease 10.4 NF1 FBN1 ERCC6
12 klippel-feil syndrome 10.4 TBX6 ROBO3 GDF5
13 ischemic bone disease 10.4 COL2A1 BMP2 ACAN
14 hypochondrogenesis 10.4 COL2A1 ACAN
15 adult malignant schwannoma 10.4 SOX9 NF1
16 synovial chondromatosis 10.4 SOX9 COL2A1 BMP2
17 spinal stenosis 10.4 MMP3 MMP13 COL2A1 ACAN
18 tracheal disease 10.4 SOX9 FBN1 COL2A1
19 weill-marchesani syndrome 10.4 FBN1 ADAMTS5 ADAMTS4
20 spondyloepimetaphyseal dysplasia 10.4 SOX9 MMP13 COL2A1 ACAN
21 aneurysm 10.4 NF1 MMP13 FBN1
22 collagen disease 10.4 FBN1 COL2A1 ADAMTS4
23 cleidocranial dysplasia 10.4 SOX9 MMP13 ACAN
24 retinal lattice degeneration 10.4 FBN1 COL2A1
25 synovitis 10.4 MMP3 MMP13 COL2A1 ACAN
26 arthropathy 10.4 MMP3 MMP13 COL2A1 ACAN
27 spondyloepimetaphyseal dysplasia, missouri type 10.4 MMP13 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
28 campomelic dysplasia 10.4 SOX9 COL2A1 ACAN
29 achondroplasia 10.4 SOX9 COL2A1 ACAN
30 fibrochondrogenesis 10.4 SOX9 COL2A1 BMP2 ACAN
31 pectus carinatum 10.4 FBN1 COL2A1
32 brachydactyly, type a1, b 10.4 GDF5 BMP2
33 brachydactyly, type a2 10.4 LBX1 GDF5 BMP2
34 enophthalmos 10.4 NF1 GDF5 FBN1 ERCC6
35 dental caries 10.4 MMP3 MMP13 BMP2
36 dyssegmental dysplasia, silverman-handmaker type 10.4 COL2A1 BMP2
37 stickler syndrome 10.4 SOX9 FBN1 COL2A1 ACAN
38 physical disorder 10.4 SOX9 PRODH ERCC6
39 osteochondritis dissecans 10.3 SOX9 MMP3 MMP13 BMP2 ACAN
40 urinary system disease 10.3 PRODH MIR486-1 MIR27A ERCC6
41 aortic valve disease 2 10.3 MIR486-1 FBN1 BMP2
42 arthritis 10.3 MMP3 MMP13 COL2A1 ADAMTS5 ADAMTS4 ACAN
43 chromosome 2q35 duplication syndrome 10.3 SOX9 GDF5 FBN1 BMP2
44 chondrosarcoma 10.3 SOX9 MMP3 MMP13 BMP2 ADAMTS4
45 bone disease 10.3 MMP13 GDF5 COL2A1 BMP2 ACAN
46 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3 PRODH NF1 MIR486-1 FBN1 ERCC6
47 aortic aneurysm, familial abdominal, 1 10.3 MMP3 MMP13 FBN1
48 x-linked monogenic disease 10.3 PRODH MIR27A ERCC6
49 orofacial cleft 10.3 SOX9 PRODH FBN1 COL2A1 BMP2
50 exostosis 10.3 MMP13 GDF5 COL2A1 BMP2 ADAMTS5 ACAN

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.26 ADAMTS3 ADAMTS4 ADAMTS5 COL2A1 ERCC6 FBN1
2 cellular MP:0005384 10.25 ADAMTS3 ADAMTS5 BMP2 COL2A1 ERCC6 FBN1
3 growth/size/body region MP:0005378 10.18 ADAMTS3 BMP2 COL2A1 ERCC6 FBN1 FXN
4 cardiovascular system MP:0005385 10.16 ADAMTS3 BMP2 COL2A1 FBN1 FXN LBX1
5 embryo MP:0005380 10.14 ADAMTS3 BMP2 COL2A1 FBN1 FXN GDF5
6 limbs/digits/tail MP:0005371 10.03 ADAMTS5 BMP2 COL2A1 ERCC6 FBN1 GDF5
7 mortality/aging MP:0010768 9.97 ADAMTS3 ADAMTS4 BMP2 COL2A1 ERCC6 FBN1
8 hearing/vestibular/ear MP:0005377 9.87 ADAMTS3 BMP2 COL2A1 ERCC6 NF1 ROBO3
9 nervous system MP:0003631 9.8 ADAMTS3 ADAMTS4 BMP2 COL2A1 ERCC6 FBN1
10 skeleton MP:0005390 9.47 ADAMTS3 ADAMTS4 ADAMTS5 BMP2 COL2A1 ERCC6

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:

40
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 9.96 MMP3 MMP13 GDF5 FBN1 COL2A1 BMP2
2 extracellular space GO:0005615 9.7 MMP3 MMP13 MIR486-1 MIR27A GDF5 FBN1
3 collagen-containing extracellular matrix GO:0062023 9.63 FBN1 COL2A1 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
4 basement membrane GO:0005604 9.5 FBN1 COL2A1 ACAN
5 extracellular matrix GO:0031012 9.23 MMP3 MMP13 FBN1 COL2A1 ADAMTS5 ADAMTS4

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 10 MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
2 heart development GO:0007507 9.8 SOX9 NF1 FBN1 BMP2 ACAN
3 ossification GO:0001503 9.77 SOX9 COL2A1 BMP2
4 central nervous system development GO:0007417 9.76 TBX6 SOX9 COL2A1 ACAN
5 cellular response to transforming growth factor beta stimulus GO:0071560 9.72 SOX9 MIR27A FBN1
6 chondrocyte differentiation GO:0002062 9.69 SOX9 COL2A1 BMP2
7 collagen catabolic process GO:0030574 9.67 MMP3 MMP13 ADAMTS3
8 chondrocyte development GO:0002063 9.62 SOX9 ACAN
9 positive regulation of chondrocyte differentiation GO:0032332 9.62 SOX9 GDF5
10 extracellular matrix disassembly GO:0022617 9.62 MMP3 MMP13 ADAMTS5 ADAMTS4
11 endocardial cushion morphogenesis GO:0003203 9.61 SOX9 BMP2
12 positive regulation of cartilage development GO:0061036 9.61 SOX9 BMP2
13 cellular response to BMP stimulus GO:0071773 9.61 SOX9 COL2A1 BMP2
14 response to amyloid-beta GO:1904645 9.59 MMP3 MMP13
15 limb bud formation GO:0060174 9.58 SOX9 COL2A1
16 notochord development GO:0030903 9.58 SOX9 COL2A1
17 proteoglycan metabolic process GO:0006029 9.57 COL2A1 BMP2
18 otic vesicle development GO:0071599 9.56 SOX9 COL2A1
19 collagen fibril organization GO:0030199 9.56 NF1 COL2A1 ADAMTS3 ACAN
20 cartilage development GO:0051216 9.55 SOX9 MMP13 GDF5 COL2A1 BMP2
21 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.54 SOX9 GDF5
22 cartilage condensation GO:0001502 9.54 SOX9 COL2A1 ACAN
23 anterior head development GO:0097065 9.48 SOX9 COL2A1
24 skeletal system development GO:0001501 9.43 SOX9 FBN1 COL2A1 BMP2 ADAMTS4 ACAN
25 extracellular matrix organization GO:0030198 9.32 SOX9 NF1 MMP3 MMP13 FBN1 COL2A1

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 endopeptidase activity GO:0004175 9.43 MMP3 MMP13 ADAMTS3
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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