MCID: BNS002
MIFTS: 24

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, 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 88)
# Related Disease Score Top Affiliating Genes
1 spondylolysis 32.4 RPL34 GDF5 FTH1
2 spondylolisthesis 32.2 RPL34 MMP3 GDF5 FTH1 BMP2 ACAN
3 scoliosis 31.9 TBX6 ROBO3 NF1 MMP3 MMP13 FBN1
4 bone deterioration disease 31.6 RPL34 MMP3 MMP13 MIR486-1 GDF5 FTH1
5 spondylosis 11.0
6 plica syndrome 10.7 PES1 MMP3
7 radiculopathy 10.7 RPL34 BMP2 ACAN
8 scheuermann disease 10.7 RPL34 PES1 COL2A1
9 discitis 10.7 RPL34 FTH1 ACAN
10 hydrarthrosis 10.7 MMP3 ACAN
11 sciatic neuropathy 10.7 RPL34 PES1
12 peroneal nerve paralysis 10.6 PES1 COL2A1
13 osteochondrosis 10.6 PES1 COL2A1 ACAN
14 kohler's disease 10.6 PES1 COL2A1
15 tendinitis 10.6 PES1 MMP3 MMP13
16 enchondromatosis, multiple, ollier type 10.6 MMP13 COL2A1 ACAN
17 lesion of sciatic nerve 10.6 RPL34 PES1
18 avascular necrosis 10.6 COL2A1 BMP2
19 enophthalmos 10.6 PES1 FBN1 ERCC6
20 cerebellar disease 10.6 PRODH PES1 ERCC6
21 patent ductus arteriosus 1 10.6 PRODH PES1 FBN1
22 synostoses, tarsal, carpal, and digital 10.6 PES1 GDF5
23 polyradiculopathy 10.6 RPL34 FTH1 BMP2 ACAN
24 pectus carinatum 10.6 FBN1 COL2A1
25 collagen disease 10.6 FBN1 COL2A1 ADAMTS4
26 hypochondrogenesis 10.6 COL2A1 ACAN
27 sorsby fundus dystrophy 10.6 MMP3 MMP13 FBN1
28 ischemic bone disease 10.6 PES1 COL2A1 BMP2 ACAN
29 synovial chondromatosis 10.6 COL2A1 BMP2
30 coxa vara 10.6 MMP13 COL2A1
31 exotropia 10.6 ROBO3 PES1 FBN1 ACAN
32 cranial nerve disease 10.6 PES1 NF1 ERCC6
33 retinal lattice degeneration 10.6 FBN1 COL2A1
34 aortic aneurysm, familial abdominal, 1 10.6 MMP3 MMP13 FBN1
35 klippel-feil syndrome 10.6 TBX6 ROBO3 GDF5
36 synovitis 10.6 MMP3 MMP13 COL2A1 ACAN
37 arthropathy 10.6 MMP3 MMP13 COL2A1 ACAN
38 spondyloepimetaphyseal dysplasia, missouri type 10.6 MMP13 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
39 fibrochondrogenesis 10.6 GDF5 COL2A1 BMP2 ACAN
40 urinary system disease 10.6 PRODH MIR486-1 MIR27A ERCC6
41 orbital disease 10.6 PES1 NF1 FBN1 ERCC6
42 peripheral nervous system disease 10.6 RPL34 PRODH PES1 ERCC6
43 dyssegmental dysplasia, silverman-handmaker type 10.6 COL2A1 BMP2
44 immune system disease 10.6 PRODH MIR486-1 MIR27A ERCC6
45 spinal stenosis 10.6 RPL34 MMP3 MMP13 COL2A1 ACAN
46 clubfoot 10.6 PRODH PES1 GDF5 COL2A1
47 inguinal hernia 10.5 PES1 NF1 MMP13 FBN1
48 chondrosarcoma 10.5 MMP3 MMP13 BMP2 ADAMTS4
49 tethered spinal cord syndrome 10.5 RPL34 PES1
50 brachydactyly, type a1, b 10.5 GDF5 BMP2

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
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.14 ADAMTS3 ADAMTS5 BMP2 COL2A1 ERCC6 FBN1
2 growth/size/body region MP:0005378 10.1 ADAMTS3 ADAMTS4 BMP2 COL2A1 ERCC6 FBN1
3 embryo MP:0005380 10.02 ADAMTS3 BMP2 COL2A1 FBN1 GDF5 NF1
4 limbs/digits/tail MP:0005371 9.85 ADAMTS5 BMP2 COL2A1 ERCC6 FBN1 GDF5
5 hearing/vestibular/ear MP:0005377 9.73 ADAMTS3 BMP2 COL2A1 ERCC6 NF1 ROBO3
6 nervous system MP:0003631 9.73 ADAMTS3 ADAMTS4 BMP2 COL2A1 ERCC6 FBN1
7 skeleton MP:0005390 9.44 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 10 MMP3 MMP13 GDF5 FTH1 FBN1 COL2A1
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:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.88 MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
2 heart development GO:0007507 9.76 NF1 FBN1 BMP2 ACAN
3 cartilage development GO:0051216 9.62 MMP13 GDF5 COL2A1 BMP2
4 extracellular matrix disassembly GO:0022617 9.56 MMP3 MMP13 ADAMTS5 ADAMTS4
5 skeletal system development GO:0001501 9.55 FBN1 COL2A1 BMP2 ADAMTS4 ACAN
6 collagen catabolic process GO:0030574 9.54 MMP3 MMP13 ADAMTS3
7 response to amyloid-beta GO:1904645 9.48 MMP3 MMP13
8 proteoglycan metabolic process GO:0006029 9.43 COL2A1 BMP2
9 extracellular matrix organization GO:0030198 9.28 NF1 MMP3 MMP13 FBN1 COL2A1 ADAMTS5
10 collagen fibril organization GO:0030199 9.26 NF1 COL2A1 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 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
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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