MCID: BNS002
MIFTS: 27

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 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 lung, and related phenotypes are cardiovascular system 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 all 32)
# Related Disease Score Top Affiliating Genes
1 spondylolysis 31.6 FTH1 GDF5
2 spondylolisthesis 31.4 MMP3 IVD GDF5 FTH1 BMP2
3 scoliosis 30.8 TBX6 SH3TC2 ROBO3 NF1 LBX1 COL2A1
4 bone deterioration disease 30.4 SOX9 RPL34 MMP3 MMP13 IVD GDF5
5 spondylosis 10.8
6 bone chondrosarcoma 10.2 ACAN MMP13
7 pseudoarthrosis 10.2 BMP2 NF1
8 polyradiculopathy 10.2 IVD BMP2 ACAN
9 achondrogenesis, type ia 10.2 ACAN COL2A1
10 brachydactyly, type a2 10.2 MMP3 GDF5 BMP2
11 ischemic bone disease 10.2 COL2A1 BMP2 ACAN
12 synovial chondromatosis 10.2 SOX9 COL2A1 BMP2
13 scheuermann disease 10.2 COL2A1 COL9A3
14 brachydactyly 10.2 BMP2 COL2A1 GDF5
15 tympanosclerosis 10.2 BMP2 COL2A1
16 bone development disease 10.2 SOX9 GDF5 COL2A1
17 chondrosarcoma 10.2 MMP13 MMP3 SOX9
18 coxa vara 10.1 COL2A1 MMP13
19 frozen shoulder 10.1 GDF5 MMP3
20 hydrarthrosis 10.1 MMP3 MMP13 ADAMTS5
21 autosomal dominant disease 10.1 ACAN COL2A1 NF1
22 multiple epiphyseal dysplasia 10.1 COL2A1 COL9A3 ACAN
23 idiopathic scoliosis 10.1 LBX1 ADGRG6 ACAN
24 osteochondritis dissecans 10.1 MMP3 MMP13 COL9A3 ACAN
25 bone disease 10.1 MMP13 GDF5 COL2A1 ACAN
26 cartilage disease 10.1 ACAN COL2A1
27 spinal stenosis 10.1 MMP3 COL9A3 COL2A1 ACAN
28 degenerative disc disease 10.0 SOX9 GDF5 COL9A3 BMP2 ACAN
29 simpson-golabi-behmel syndrome, type 1 10.0 ACAN COL2A1
30 arthritis 10.0 MMP3 MMP13 COL2A1 ADAMTS5 ACAN
31 bone inflammation disease 9.9 SOX9 MMP3 MMP13 COL2A1 ADAMTS5 ACAN
32 osteoarthritis 9.7 SOX9 MMP3 MMP13 GDF5 COL2A1 CILP

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 cardiovascular system MP:0005385 10.07 ADGRG6 BMP2 COL2A1 FTH1 LBX1 MMP13
2 cellular MP:0005384 10.06 ADAMTS5 ADGRG6 BMP2 COL2A1 FTH1 LBX1
3 mortality/aging MP:0010768 9.93 ADGRG6 BMP2 COL2A1 FTH1 GDF5 IVD
4 limbs/digits/tail MP:0005371 9.91 ADAMTS5 BMP2 COL2A1 GDF5 LBX1 MMP13
5 nervous system MP:0003631 9.7 ADGRG6 BMP2 COL2A1 FTH1 LBX1 MMP3
6 skeleton MP:0005390 9.36 ADAMTS5 ADGRG6 BMP2 COL2A1 GDF5 MMP13

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:

41
Bone, Lung

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 9.76 ADAMTS5 BMP2 CILP COL2A1 COL9A3 GDF5
2 extracellular region GO:0005576 9.65 ACAN ADAMTS5 BMP2 CILP COL2A1 COL9A3
3 collagen-containing extracellular matrix GO:0062023 9.62 ACAN ADAMTS5 CILP COL2A1
4 collagen trimer GO:0005581 9.43 COL2A1 COL9A3 MMP13
5 extracellular matrix GO:0031012 9.1 ACAN ADAMTS5 COL2A1 COL9A3 MMP13 MMP3

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.93 BMP2 FTH1 LBX1 NF1 SOX9
2 heart development GO:0007507 9.87 ACAN BMP2 NF1 SOX9
3 central nervous system development GO:0007417 9.8 ACAN COL2A1 SOX9
4 ossification GO:0001503 9.77 BMP2 COL2A1 SOX9
5 skeletal system development GO:0001501 9.71 ACAN BMP2 COL2A1 SOX9
6 extracellular matrix disassembly GO:0022617 9.7 ADAMTS5 MMP13 MMP3
7 regulation of MAPK cascade GO:0043408 9.69 BMP2 GDF5 NF1
8 extracellular matrix organization GO:0030198 9.65 ACAN COL2A1 COL9A3 NF1 SOX9
9 positive regulation of chondrocyte differentiation GO:0032332 9.64 GDF5 SOX9
10 tissue homeostasis GO:0001894 9.63 COL2A1 SOX9
11 cell fate specification GO:0001708 9.62 SOX9 TBX6
12 negative regulation of chondrocyte differentiation GO:0032331 9.62 GDF5 SOX9
13 chondrocyte development GO:0002063 9.61 ACAN SOX9
14 endocardial cushion morphogenesis GO:0003203 9.61 BMP2 SOX9
15 collagen fibril organization GO:0030199 9.61 ACAN COL2A1 NF1
16 positive regulation of cartilage development GO:0061036 9.6 BMP2 SOX9
17 limb bud formation GO:0060174 9.58 COL2A1 SOX9
18 notochord development GO:0030903 9.58 COL2A1 SOX9
19 negative regulation of insulin-like growth factor receptor signaling pathway GO:0043569 9.56 BMP2 CILP
20 proteoglycan metabolic process GO:0006029 9.55 BMP2 COL2A1
21 cellular response to BMP stimulus GO:0071773 9.54 BMP2 COL2A1 SOX9
22 cartilage condensation GO:0001502 9.5 ACAN COL2A1 SOX9
23 otic vesicle development GO:0071599 9.49 COL2A1 SOX9
24 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.48 GDF5 SOX9
25 anterior head development GO:0097065 9.46 COL2A1 SOX9
26 myelination in peripheral nervous system GO:0022011 9.33 ADGRG6 NF1 SH3TC2
27 chondrocyte differentiation GO:0002062 9.26 BMP2 COL2A1 GDF5 SOX9
28 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 GO:0005201 8.92 ACAN CILP COL2A1 COL9A3

Sources for Bone Structure Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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