MCID: BNS002
MIFTS: 23

Bone Structure Disease

Categories: Bone diseases
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Aliases & Classifications for Bone Structure Disease

MalaCards integrated aliases for Bone Structure Disease:

Name: Bone Structure Disease 11 14

Classifications:



External Ids:

Disease Ontology 11 DOID:0080010

Summaries for Bone Structure Disease

Disease Ontology: 11 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 Extracellular matrix organization and Endochondral ossification. Affiliated tissues include bone, and related phenotypes are nervous system and limbs/digits/tail

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 154)
# Related Disease Score Top Affiliating Genes
1 spondylolysis 32.3 TBX6 BMP2 ACAN
2 spondylolisthesis 32.1 MMP3 MMP13 BMP2 ADAMTS5 ADAMTS4 ADAMTS3
3 scoliosis 31.9 TBX6 ROBO3 NF1 MMP3 MMP13 LBX1
4 bone deterioration disease 31.8 MMP3 MMP13 MIR494 MIR486-1 MIR2355 MIR17
5 spondylosis 11.0
6 spondyloepimetaphyseal dysplasia 10.5 MMP13 COL2A1 ACAN
7 tendinitis 10.5 MMP3 MMP13 ACAN
8 septic arthritis 10.5 MMP3 MMP13 ACAN
9 stickler syndrome 10.5 FBN1 COL2A1 ACAN
10 coxa vara 10.5 MMP13 COL2A1
11 reproductive system disease 10.5 MIR486-1 MIR27A MIR17 MIR140
12 fibrochondrogenesis 10.5 COL2A1 BMP2 ACAN
13 exotropia 10.5 ROBO3 FBN1 ACAN
14 laryngeal disease 10.5 MIR486-1 MIR27A MIR17 MIR140
15 retinal cancer 10.5 MIR486-1 MIR27A MIR17 MIR140
16 spinal stenosis 10.5 MMP3 MMP13 COL2A1 ACAN
17 heart valve disease 10.5 MIR486-1 MIR17 MIR140 FBN1
18 spondyloepimetaphyseal dysplasia, strudwick type 10.5 FBN1 COL2A1 ACAN
19 eye degenerative disease 10.5 PRODH MIR27A MIR17 MIR140
20 bone marrow cancer 10.5 MIR486-1 MIR27A MIR17 MIR140
21 chromosomal disease 10.5 PRODH MIR486-1 MIR17 MIR140
22 geleophysic dysplasia 10.5 FBN1 ADAMTS5 ADAMTS4
23 muscular disease 10.5 PRODH MIR486-1 MIR17 MIR140
24 aortic disease 10.5 MIR486-1 MIR27A MIR17 FBN1
25 stickler syndrome, type i 10.5 FBN1 COL2A1 BMP2
26 weill-marchesani syndrome 10.5 FBN1 ADAMTS5 ADAMTS4
27 physical disorder 10.5 PRODH MIR486-1 MIR17 MIR140
28 nasopharyngeal disease 10.5 MIR486-1 MIR27A MIR17 MIR140
29 pharynx cancer 10.5 MIR486-1 MIR27A MIR17 MIR140
30 hydrarthrosis 10.5 MMP3 ADAMTS5
31 oral cavity cancer 10.5 MIR486-1 MIR27A MIR17 MIR140
32 esophageal disease 10.5 MIR486-1 MIR27A MIR17 MIR140
33 osteochondrosis 10.5 MMP13 COL2A1 BMP2 ACAN
34 pectus carinatum 10.4 FBN1 COL2A1
35 upper respiratory tract disease 10.4 MIR486-1 MIR27A MIR17 MIR140
36 enchondromatosis, multiple, ollier type 10.4 MMP13 COL2A1 BMP2 ACAN
37 collagen disease 10.4 FBN1 COL2A1 ADAMTS4
38 retinal disease 10.4 MIR486-1 MIR27A MIR17 MIR140
39 cervix disease 10.4 MIR486-1 MIR27A MIR17 MIR140
40 cleidocranial dysplasia 1 10.4 MMP13 COL2A1 BMP2
41 synovitis 10.4 MMP3 MMP13 COL2A1 ACAN
42 bone resorption disease 10.4 MIR27A MIR17 MIR140 BMP2
43 integumentary system disease 10.4 PRODH MIR486-1 MIR27A MIR17 MIR140
44 acquired metabolic disease 10.4 PRODH MIR486-1 MIR27A MIR17 MIR140
45 overnutrition 10.4 PRODH MIR486-1 MIR27A MIR17 MIR140
46 disease of mental health 10.4 PRODH MIR486-1 MIR27A MIR17 MIR140
47 bone remodeling disease 10.4 MIR27A MIR17 MIR140 BMP2
48 sensory system disease 10.4 PRODH MIR486-1 MIR27A MIR17 MIR140
49 glucose metabolism disease 10.4 PRODH MIR486-1 MIR27A MIR17 MIR140
50 carbohydrate metabolic disorder 10.4 PRODH MIR486-1 MIR27A MIR17 MIR140

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 nervous system MP:0003631 10.1 ACAN ADAMTS3 ADAMTS4 BMP2 COL2A1 FBN1
2 limbs/digits/tail MP:0005371 10 ACAN ADAMTS5 BMP2 COL2A1 FBN1 LBX1
3 hearing/vestibular/ear MP:0005377 9.63 ACAN ADAMTS3 BMP2 COL2A1 NF1 ROBO3
4 craniofacial MP:0005382 9.5 ACAN ADAMTS3 BMP2 COL2A1 FBN1 MIR140
5 skeleton MP:0005390 9.47 ACAN ADAMTS3 ADAMTS4 ADAMTS5 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

Organs/tissues related to Bone Structure Disease:

MalaCards : 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 9.96 ADAMTS3 ADAMTS4 ADAMTS5 BMP2 COL2A1 FBN1
2 collagen-containing extracellular matrix GO:0062023 9.93 FBN1 COL2A1 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
3 extracellular matrix GO:0031012 9.53 MMP3 MMP13 FBN1 COL2A1 ADAMTS5 ADAMTS4

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 10.22 ACAN ADAMTS3 ADAMTS4 ADAMTS5 MMP13 MMP3
2 miRNA-mediated gene silencing GO:0035195 10.21 MIR494 MIR486-1 MIR27A MIR2355 MIR17 MIR140
3 negative regulation of gene expression GO:0010629 9.93 MIR494 MIR27A MIR17 MIR140 BMP2
4 collagen catabolic process GO:0030574 9.88 MMP3 MMP13 ADAMTS3
5 skeletal system development GO:0001501 9.85 FBN1 COL2A1 BMP2 ADAMTS4 ACAN
6 proteoglycan metabolic process GO:0006029 9.8 COL2A1 BMP2
7 collagen fibril organization GO:0030199 9.8 NF1 COL2A1 ADAMTS3 ACAN
8 positive regulation of vascular associated smooth muscle cell proliferation GO:1904707 9.73 NF1 MIR27A MIR17
9 extracellular matrix disassembly GO:0022617 9.56 ADAMTS4 ADAMTS5 MMP13 MMP3
10 miRNA-mediated gene silencing by mRNA destabilization GO:0035279 9.5 MIR486-1 MIR27A MIR140
11 extracellular matrix organization GO:0030198 9.47 NF1 MMP3 MMP13 COL2A1 ADAMTS5 ADAMTS4
12 negative regulation of BMP secretion GO:2001285 9.37 MIR140 MIR17

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 9.92 MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3
2 endopeptidase activity GO:0004175 9.86 MMP3 MMP13 ADAMTS5 ADAMTS3
3 metalloendopeptidase activity GO:0004222 9.85 ADAMTS3 ADAMTS4 ADAMTS5 MMP13 MMP3
4 mRNA 3'-UTR binding GO:0003730 9.67 MIR486-1 MIR27A MIR17 MIR140
5 metallopeptidase activity GO:0008237 9.56 MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3
6 mRNA base-pairing translational repressor activity GO:1903231 9.1 MIR494 MIR486-1 MIR27A MIR2355 MIR17 MIR140

Sources for Bone Structure Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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