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 RPL34 (Ribosomal Protein L34), and among its related pathways/superpathways are Degradation of the extracellular matrix and Diseases of glycosylation. Affiliated tissues include bone, eye and spinal cord, and related phenotypes are cellular and growth/size/body region

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 94)
# Related Disease Score Top Affiliating Genes
1 spondylolysis 32.4 RPL34 GDF5 FTH1 BMP2
2 spondylolisthesis 32.2 RPL34 MMP3 GDF5 FTH1 BMP2 ACAN
3 scoliosis 31.7 TBX6 SOX9 ROBO3 NF1 MMP3 MMP13
4 bone deterioration disease 31.5 SOX9 RPL34 MMP3 MMP13 GDF5 FTH1
5 spondylosis 11.0
6 central nervous system hemangioma 10.7 RPL34 NF1
7 sciatic neuropathy 10.7 RPL34 PES1
8 plica syndrome 10.7 PES1 MMP3
9 femoral neuropathy 10.7 RPL34 PES1
10 discitis 10.7 RPL34 FTH1 ACAN
11 mononeuritis of lower limb 10.7 RPL34 PES1
12 hydrarthrosis 10.7 MMP3 ADAMTS5
13 lesion of sciatic nerve 10.7 RPL34 PES1
14 scheuermann disease 10.7 RPL34 PES1 COL2A1
15 peroneal nerve paralysis 10.7 PES1 COL2A1
16 facial hemiatrophy 10.7 ADAMTS4 ADAMTS3
17 avascular necrosis 10.6 COL2A1 BMP2
18 enophthalmos 10.6 PES1 FBN1 ERCC6
19 osteochondrosis 10.6 PES1 COL2A1 ACAN
20 tooth ankylosis 10.6 GDF5 BMP2
21 tendinitis 10.6 PES1 MMP3 MMP13
22 synostoses, tarsal, carpal, and digital 10.6 PES1 GDF5
23 lumbosacral lipoma 10.6 RPL34 PES1
24 tricuspid valve prolapse 10.6 PES1 FBN1
25 enchondromatosis, multiple, ollier type 10.6 MMP13 COL2A1 ACAN
26 kohler's disease 10.6 PES1 COL2A1
27 arachnoiditis 10.6 RPL34 FTH1
28 retinal lattice degeneration 10.6 FBN1 COL2A1
29 polyradiculopathy 10.6 RPL34 FTH1 BMP2 ACAN
30 patent ductus arteriosus 1 10.6 PRODH PES1 FBN1
31 brachyolmia 10.6 SOX9 COL2A1 ACAN
32 pectus carinatum 10.6 FBN1 COL2A1
33 coxa vara 10.6 MMP13 COL2A1
34 cleidocranial dysplasia 10.6 SOX9 MMP13 ACAN
35 synovial chondromatosis 10.6 SOX9 COL2A1 BMP2
36 peripheral nervous system disease 10.6 RPL34 PRODH PES1 ERCC6
37 campomelic dysplasia 10.6 SOX9 COL2A1 ACAN
38 sorsby fundus dystrophy 10.6 MMP3 MMP13 FBN1
39 dyssegmental dysplasia, silverman-handmaker type 10.6 COL2A1 BMP2
40 exotropia 10.6 ROBO3 PES1 FBN1 ACAN
41 hypochondrogenesis 10.6 COL2A1 ACAN
42 tethered spinal cord syndrome 10.6 RPL34 PES1
43 orbital disease 10.6 PES1 NF1 FBN1 ERCC6
44 ischemic bone disease 10.6 PES1 COL2A1 BMP2 ACAN
45 achondroplasia 10.6 SOX9 COL2A1 ACAN
46 tracheal disease 10.6 SOX9 FBN1 COL2A1
47 aortic aneurysm, familial abdominal, 1 10.6 MMP3 MMP13 FBN1
48 spinal disease 10.6 TBX6 RPL34 FTH1 BMP2
49 osteochondritis dissecans 10.6 MMP3 MMP13 BMP2 ACAN
50 physical disorder 10.6 SOX9 PRODH PES1 ERCC6

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:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 ADAMTS3 ADAMTS5 BMP2 COL2A1 ERCC6 FBN1
2 growth/size/body region MP:0005378 10.21 ADAMTS3 BMP2 COL2A1 ERCC6 FBN1 GDF5
3 homeostasis/metabolism MP:0005376 10.18 ADAMTS3 BMP2 COL2A1 ERCC6 FBN1 FTH1
4 embryo MP:0005380 10.16 ADAMTS3 BMP2 COL2A1 FBN1 GDF5 NF1
5 mortality/aging MP:0010768 10.07 ADAMTS3 ADAMTS4 BMP2 COL2A1 ERCC6 FBN1
6 limbs/digits/tail MP:0005371 10.06 ADAMTS5 BMP2 COL2A1 ERCC6 FBN1 GDF5
7 craniofacial MP:0005382 10.02 ADAMTS3 BMP2 COL2A1 FBN1 NF1 PES1
8 nervous system MP:0003631 9.97 ADAMTS3 ADAMTS4 BMP2 COL2A1 ERCC6 FBN1
9 hearing/vestibular/ear MP:0005377 9.95 ADAMTS3 BMP2 COL2A1 ERCC6 NF1 ROBO3
10 renal/urinary system MP:0005367 9.5 ADAMTS3 ADAMTS4 COL2A1 FBN1 NF1 SOX9
11 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, Eye, Spinal Cord, Heart

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 10 MMP3 MMP13 GDF5 FTH1 FBN1 COL2A1
2 extracellular space GO:0005615 9.85 MMP3 MMP13 MIR27A GDF5 FBN1 COL2A1
3 basement membrane GO:0005604 9.5 FBN1 COL2A1 ACAN
4 collagen-containing extracellular matrix GO:0062023 9.43 FBN1 COL2A1 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
5 extracellular matrix GO:0031012 9.17 MMP3 MMP13 FBN1 COL2A1 ADAMTS5 ADAMTS3

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.99 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 cellular response to transforming growth factor beta stimulus GO:0071560 9.73 SOX9 MIR27A FBN1
5 regulation of MAPK cascade GO:0043408 9.72 NF1 GDF5 BMP2
6 collagen catabolic process GO:0030574 9.65 MMP3 MMP13 ADAMTS3
7 chondrocyte differentiation GO:0002062 9.63 SOX9 COL2A1 BMP2
8 extracellular matrix disassembly GO:0022617 9.62 MMP3 MMP13 ADAMTS5 ADAMTS4
9 endocardial cushion morphogenesis GO:0003203 9.61 SOX9 BMP2
10 positive regulation of cartilage development GO:0061036 9.61 SOX9 BMP2
11 cellular response to BMP stimulus GO:0071773 9.61 SOX9 COL2A1 BMP2
12 response to amyloid-beta GO:1904645 9.6 MMP3 MMP13
13 limb bud formation GO:0060174 9.58 SOX9 COL2A1
14 notochord development GO:0030903 9.58 SOX9 COL2A1
15 proteoglycan metabolic process GO:0006029 9.57 COL2A1 BMP2
16 collagen fibril organization GO:0030199 9.56 NF1 COL2A1 ADAMTS3 ACAN
17 cartilage development GO:0051216 9.55 SOX9 MMP13 GDF5 COL2A1 BMP2
18 otic vesicle development GO:0071599 9.54 SOX9 COL2A1
19 cartilage condensation GO:0001502 9.54 SOX9 COL2A1 ACAN
20 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.52 SOX9 GDF5
21 anterior head development GO:0097065 9.49 SOX9 COL2A1
22 skeletal system development GO:0001501 9.43 SOX9 FBN1 COL2A1 BMP2 ADAMTS4 ACAN
23 extracellular matrix organization GO:0030198 9.17 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 protein binding GO:0005515 10.19 TBX6 SOX9 RPL34 ROBO3 PES1 NF1
2 peptidase activity GO:0008233 9.55 MMP3 MMP13 ADAMTS5 ADAMTS4 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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