MCID: BND014
MIFTS: 31

Bone Development Disease

Categories: Bone diseases

Aliases & Classifications for Bone Development Disease

MalaCards integrated aliases for Bone Development Disease:

Name: Bone Development Disease 12 14

Classifications:



External Ids:

Disease Ontology 12 DOID:0080006

Summaries for Bone Development Disease

Disease Ontology : 12 A bone disease that results_in abnormal growth and development located in bone or located in cartilage.

MalaCards based summary : Bone Development Disease is related to dysostosis and osteochondrodysplasia. An important gene associated with Bone Development Disease is RNU4ATAC (RNA, U4atac Small Nuclear (U12-Dependent Splicing)), and among its related pathways/superpathways are Phospholipase-C Pathway and Focal Adhesion. Affiliated tissues include bone or and bone, and related phenotypes are growth/size/body region and limbs/digits/tail

Related Diseases for Bone Development Disease

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

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 dysostosis 31.4 FGFR2 FGFR3 PIK3R2 RUNX2
2 osteochondrodysplasia 31.1 COL2A1 FGFR3 RNU4ATAC SHOX2 SLC26A2 SOX9
3 ehlers-danlos/osteogenesis imperfecta syndrome 10.6 COL1A1 COL1A2
4 ehlers-danlos syndrome, arthrochalasia type, 1 10.6 COL1A1 COL1A2
5 high bone mass osteogenesis imperfecta 10.6 COL1A1 COL1A2
6 plagiocephaly 10.6 FGFR2 FGFR3
7 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.6
8 spondylocarpotarsal synostosis syndrome 10.6
9 split hand-foot malformation 10.6
10 clubfoot 10.6
11 larsen-like syndrome 10.6 COL1A1 COL1A2
12 leri-weill dyschondrosteosis 10.5 FGFR3 SHOX SHOX2
13 osteoglophonic dysplasia 10.5 FGFR2 FGFR3
14 thanatophoric dysplasia, type i 10.5 COMP FGFR2 FGFR3
15 hypochondroplasia 10.5 FGFR2 FGFR3 SHOX
16 osteogenesis imperfecta, type i 10.5 COL1A1 COL1A2 FGFR3
17 osteogenesis imperfecta, type vii 10.5 COL1A1 COL1A2 CRTAP
18 atelosteogenesis 10.5 COMP FGFR3 SLC26A2
19 physical disorder 10.5 PIK3R2 RNU4ATAC SHOX2
20 parietal foramina with cleidocranial dysplasia 10.5 MSX2 RUNX2
21 achondrogenesis, type ia 10.5 COL2A1 SLC26A2
22 osteogenesis imperfecta, type xi 10.5 CRTAP FKBP10
23 collagen disease 10.5 COL1A1 COL1A2 COL2A1
24 diastrophic dysplasia 10.4 COL2A1 COMP SLC26A2
25 spondyloepiphyseal dysplasia with congenital joint dislocations 10.4 COL2A1 FGFR3 SMARCAL1
26 crouzon syndrome 10.4 FGFR2 FGFR3 MSX2
27 otosclerosis 10.4 COL1A1 COL1A2 SLC26A2
28 retinal perforation 10.4 COL2A1 P3H1
29 pfeiffer syndrome 10.4 COL1A1 FGFR2 FGFR3 RUNX2
30 osteogenesis imperfecta, type vi 10.4 COL1A1 COL1A2 IFITM5
31 scoliosis 10.4 COL1A1 COL1A2 COL2A1 FGFR3
32 osteogenesis imperfecta, type v 10.4 COL1A1 COL1A2 IFITM5
33 pilomyxoid astrocytoma 10.4 COL1A1 COL2A1
34 synostosis 10.4 FGFR2 FGFR3 MSX2
35 luteoma 10.4 FGFR2 FGFR3
36 multiple epiphyseal dysplasia 10.3 COL2A1 COMP SLC26A2
37 cervical incompetence 10.3 CRTAP P3H1
38 autosomal dominant disease 10.3 FGFR2 FGFR3 MSX2
39 cleidocranial dysplasia 10.3 MSX2 RUNX2 SOX9
40 osteogenesis imperfecta, type viii 10.3 COL1A1 COL1A2 CRTAP P3H1
41 chromosome 2q35 duplication syndrome 10.3 FGFR2 FGFR3 HOXD13 PIK3R2
42 orofacial cleft 10.3 COL2A1 FGFR2 MSX2 SHOX2
43 osteogenesis imperfecta, type iv 10.3 COL1A1 COL1A2 CRTAP FKBP10
44 craniosynostosis 10.3 FGFR2 FGFR3 MSX2 RUNX2
45 brachydactyly 10.2 COL2A1 HOXD13 RUNX2
46 synovial chondromatosis 10.2 COL1A1 COL2A1 FGFR3 RUNX2 SOX9
47 coxa vara 10.2 COL2A1 CRTAP
48 saethre-chotzen syndrome 10.2 COL1A2 FGFR2 FGFR3 MSX2 RUNX2
49 skeletal dysplasias 10.2 COL2A1 COMP FGFR3 SLC26A2 SOX9
50 achondroplasia 10.2 COMP FGFR2 FGFR3 SHOX SOX9

Graphical network of the top 20 diseases related to Bone Development Disease:



Diseases related to Bone Development Disease

Symptoms & Phenotypes for Bone Development Disease

MGI Mouse Phenotypes related to Bone Development Disease:

43 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.44 SLC26A2 PIK3R2 SMARCAL1 RUNX2 SOX9 SHOX2
2 limbs/digits/tail MP:0005371 10.31 RUNX2 SOX9 SHOX2 P3H1 SLC26A2 FGFR3
3 cardiovascular system MP:0005385 10.3 PIK3R2 RUNX2 SHOX2 MSX2 FGFR2 FKBP10
4 cellular MP:0005384 10.29 SLC26A2 SMARCAL1 RUNX2 FGFR3 FKBP10 FGFR2
5 craniofacial MP:0005382 10.28 SLC26A2 RUNX2 SOX9 SHOX2 FGFR3 IFITM5
6 homeostasis/metabolism MP:0005376 10.26 PIK3R2 SMARCAL1 RUNX2 SHOX2 FGFR2 FGFR3
7 mortality/aging MP:0010768 10.25 SLC26A2 SMARCAL1 RUNX2 MSX2 SHOX2 HOXD13
8 digestive/alimentary MP:0005381 10.18 RUNX2 SOX9 SHOX2 HOXD13 FGFR3 MSX2
9 integument MP:0010771 10.11 P3H1 RUNX2 MSX2 HOXD13 FGFR3 FGFR2
10 muscle MP:0005369 10.07 PIK3R2 RUNX2 SOX9 P3H1 MSX2 FGFR2
11 adipose tissue MP:0005375 10.04 P3H1 FGFR2 SOX9 COL2A1 COL1A1 COL1A2
12 hearing/vestibular/ear MP:0005377 10.04 P3H1 MSX2 FGFR3 FGFR2 SOX9 COL2A1
13 skeleton MP:0005390 9.89 SLC26A2 SMARCAL1 RUNX2 SOX9 SHOX2 P3H1
14 no phenotypic analysis MP:0003012 9.87 SMARCAL1 RUNX2 HOXD13 FGFR3 FGFR2 SOX9
15 normal MP:0002873 9.86 MSX2 FGFR2 FGFR3 SOX9 COL2A1 COL1A1
16 renal/urinary system MP:0005367 9.7 SMARCAL1 HOXD13 FGFR3 FGFR2 SOX9 COL2A1
17 vision/eye MP:0005391 9.23 RUNX2 MSX2 HOXD13 FGFR3 FGFR2 SOX9

Drugs & Therapeutics for Bone Development Disease

Search Clinical Trials , NIH Clinical Center for Bone Development Disease

Genetic Tests for Bone Development Disease

Anatomical Context for Bone Development Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Bone Development Disease:

18
Bone Or

MalaCards organs/tissues related to Bone Development Disease:

38
Bone

Publications for Bone Development Disease

Variations for Bone Development Disease

Expression for Bone Development Disease

Search GEO for disease gene expression data for Bone Development Disease.

Pathways for Bone Development Disease

Pathways related to Bone Development Disease according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 COL1A1 COL1A2 COL2A1 FGFR2 FGFR3 PIK3R2
2
Show member pathways
12.71 COL1A1 COL1A2 COL2A1 COMP PIK3R2
3
Show member pathways
12.63 COL1A1 COL1A2 COL2A1 CRTAP P3H1
4
Show member pathways
12.52 COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
5
Show member pathways
12.45 COL1A1 COL1A2 COL2A1 COMP CRTAP P3H1
6
Show member pathways
11.91 COL1A1 COL1A2 COL2A1 COMP
7 11.71 COL1A1 COL1A2 PIK3R2
8 11.68 COL1A1 COL1A2 PIK3R2
9 11.54 COL2A1 MSX2 RUNX2 SOX9
10 11.47 FGFR2 FGFR3 PIK3R2
11 11.42 COL1A1 COL1A2 COL2A1
12 11.17 COL1A1 COL1A2 RUNX2
13 11.07 COL2A1 FGFR3 RUNX2 SOX9
14 11.03 COL2A1 FGFR2 FGFR3 MSX2 SOX9
15 10.75 COL1A1 COL1A2 COL2A1 FGFR2 FGFR3 PIK3R2

GO Terms for Bone Development Disease

Cellular components related to Bone Development Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.65 COL1A1 COL1A2 COL2A1 COMP FGFR2
2 collagen trimer GO:0005581 9.54 COL1A1 COL1A2 COL2A1
3 proteinaceous extracellular matrix GO:0005578 9.43 COL1A1 COL1A2 COL2A1 COMP CRTAP P3H1
4 macromolecular complex GO:0032991 9.32 CRTAP P3H1
5 collagen type I trimer GO:0005584 9.16 COL1A1 COL1A2
6 endoplasmic reticulum lumen GO:0005788 9.1 COL1A1 COL1A2 COL2A1 CRTAP FKBP10 P3H1

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.89 COL1A1 COL1A2 COL2A1 COMP SOX9
2 phosphatidylinositol phosphorylation GO:0046854 9.87 FGFR2 FGFR3 PIK3R2
3 wound healing GO:0042060 9.87 COL1A1 FGFR2 MSX2
4 cartilage development GO:0051216 9.86 COL2A1 MSX2 SOX9
5 cellular response to retinoic acid GO:0071300 9.85 COL1A1 FGFR2 SOX9
6 collagen catabolic process GO:0030574 9.85 COL1A1 COL1A2 COL2A1
7 cellular response to transforming growth factor beta stimulus GO:0071560 9.83 COL1A1 FGFR2 SOX9
8 osteoblast differentiation GO:0001649 9.83 COL1A1 MSX2 RUNX2 SHOX2
9 bone development GO:0060348 9.8 COL2A1 FGFR2 P3H1
10 embryonic limb morphogenesis GO:0030326 9.8 HOXD13 MSX2 SHOX2
11 chaperone-mediated protein folding GO:0061077 9.78 CRTAP FKBP10 P3H1
12 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.77 FGFR2 FGFR3 PIK3R2
13 collagen fibril organization GO:0030199 9.76 COL1A1 COL1A2 COL2A1
14 skeletal system morphogenesis GO:0048705 9.76 COL1A1 COL2A1 FGFR2 RUNX2
15 cellular response to BMP stimulus GO:0071773 9.75 COL2A1 RUNX2 SOX9
16 bone mineralization GO:0030282 9.74 FGFR2 FGFR3 IFITM5
17 odontogenesis GO:0042476 9.73 COL1A2 FGFR2 MSX2
18 embryonic forelimb morphogenesis GO:0035115 9.72 MSX2 RUNX2 SHOX2
19 positive regulation of mesenchymal cell proliferation GO:0002053 9.71 FGFR2 SHOX2 SOX9
20 osteoblast development GO:0002076 9.7 MSX2 RUNX2
21 prostate gland development GO:0030850 9.7 HOXD13 SOX9
22 regulation of osteoblast differentiation GO:0045667 9.7 FGFR2 RUNX2
23 protein heterotrimerization GO:0070208 9.69 COL1A1 COL1A2
24 embryonic skeletal joint morphogenesis GO:0060272 9.69 COL2A1 SHOX2
25 notochord development GO:0030903 9.68 COL2A1 SOX9
26 gland morphogenesis GO:0022612 9.68 FGFR2 HOXD13
27 skin morphogenesis GO:0043589 9.68 COL1A1 COL1A2
28 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.67 FGFR2 RUNX2
29 bone morphogenesis GO:0060349 9.67 FGFR2 FGFR3 IFITM5 MSX2
30 bone trabecula formation GO:0060346 9.66 COL1A1 MSX2
31 positive regulation of phospholipase activity GO:0010518 9.66 FGFR2 FGFR3
32 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.65 FGFR2 HOXD13
33 limb bud formation GO:0060174 9.65 COL2A1 FGFR2 SOX9
34 lacrimal gland development GO:0032808 9.64 FGFR2 SOX9
35 otic vesicle formation GO:0030916 9.64 FGFR2 SOX9
36 otic vesicle development GO:0071599 9.63 COL2A1 SOX9
37 heart valve development GO:0003170 9.62 SHOX2 SOX9
38 endochondral ossification GO:0001958 9.62 COL1A1 COL2A1 FGFR3 RUNX2
39 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.61 FGFR2 HOXD13
40 endochondral bone growth GO:0003416 9.61 FGFR2 FGFR3 MSX2
41 prostate gland morphogenesis GO:0060512 9.59 FGFR2 SOX9
42 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.58 COL1A1 COL2A1 SHOX2
43 chondrocyte development GO:0002063 9.56 MSX2 RUNX2 SHOX2 SOX9
44 chondrocyte differentiation GO:0002062 9.55 COL2A1 FGFR3 RUNX2 SHOX2 SOX9
45 negative regulation of post-translational protein modification GO:1901874 9.51 CRTAP P3H1
46 ossification GO:0001503 9.43 COL1A1 COL2A1 MSX2 RUNX2 SLC26A2 SOX9
47 skeletal system development GO:0001501 9.32 COL1A1 COL1A2 COL2A1 COMP FGFR3 HOXD13
48 positive regulation of transcription by RNA polymerase II GO:0045944 10.2 FGFR2 HOXD13 PIK3R2 RUNX2 SHOX SHOX2

Molecular functions related to Bone Development Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.8 HOXD13 MSX2 SHOX SHOX2 SOX9
2 protease binding GO:0002020 9.54 COL1A1 COL1A2 COMP
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 FGFR2 FGFR3 PIK3R2
4 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 FGFR2 FGFR3 PIK3R2
5 fibroblast growth factor-activated receptor activity GO:0005007 9.26 FGFR2 FGFR3
6 extracellular matrix structural constituent GO:0005201 9.26 COL1A1 COL1A2 COL2A1 COMP
7 platelet-derived growth factor binding GO:0048407 8.8 COL1A1 COL1A2 COL2A1

Sources for Bone Development Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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