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 15

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 osteochondrodysplasia and fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly. 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, lung and bone or, and related phenotypes are growth/size/body region and cellular

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 60)
# Related Disease Score Top Affiliating Genes
1 osteochondrodysplasia 31.0 COL1A1 COL1A2 COL2A1 FGFR3 RNU4ATAC SHOX2
2 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.7
3 spondylocarpotarsal synostosis syndrome 10.7
4 split hand-foot malformation 10.7
5 clubfoot 10.7
6 dysostosis 10.7
7 hemifacial hyperplasia 10.3 FGFR2 FGFR3
8 ehlers-danlos/osteogenesis imperfecta syndrome 10.3 COL1A1 COL1A2
9 high bone mass osteogenesis imperfecta 10.3 COL1A1 COL1A2
10 plagiocephaly 10.3 FGFR2 FGFR3
11 osteogenesis imperfecta, type vi 10.3 COL1A1 IFITM5
12 osteogenesis imperfecta, type i 10.3 COL1A1 COL1A2 FGFR3
13 larsen-like syndrome 10.3 COL1A1 COL1A2
14 osteoglophonic dysplasia 10.3 FGFR2 FGFR3
15 leri-weill dyschondrosteosis 10.3 FGFR3 SHOX SHOX2
16 luteoma 10.2 FGFR2 FGFR3
17 osteogenesis imperfecta, type vii 10.2 COL1A1 COL1A2 CRTAP
18 hypochondroplasia 10.2 FGFR2 FGFR3 SHOX
19 thanatophoric dysplasia, type i 10.2 COMP FGFR2 FGFR3
20 bone chondrosarcoma 10.2 COMP RUNX2
21 skeletal dysplasias 10.2 COL2A1 COMP FGFR3
22 osteogenesis imperfecta, type xi 10.2 CRTAP FKBP10
23 retinal perforation 10.2 COL2A1 P3H1
24 parietal foramina with cleidocranial dysplasia 10.2 MSX2 RUNX2
25 classic ehlers-danlos syndrome 10.2 COL1A1 COL1A2
26 physical disorder 10.2 PIK3R2 RNU4ATAC SHOX2
27 diastrophic dysplasia 10.2 COL2A1 COMP SLC26A2
28 osteogenesis imperfecta, type v 10.2 COL1A1 COL1A2 IFITM5
29 beare-stevenson cutis gyrata syndrome 10.2 FGFR2 FGFR3
30 otosclerosis 10.2 COL1A1 COL1A2 SLC26A2
31 multiple epiphyseal dysplasia 10.2 COL2A1 COMP SLC26A2
32 crouzon syndrome 10.2 FGFR2 FGFR3 MSX2
33 cervical incompetence 10.2 CRTAP P3H1
34 pfeiffer syndrome 10.2 COL1A1 FGFR2 FGFR3 RUNX2
35 achondrogenesis, type ia 10.2 COL2A1 SLC26A2
36 bone inflammation disease 10.2 COL2A1 COMP SOX9
37 synostosis 10.2 FGFR2 FGFR3 MSX2
38 osteogenesis imperfecta, type viii 10.2 COL1A1 COL1A2 CRTAP P3H1
39 cleft palate, isolated 10.2 COL2A1 FGFR2 SHOX2 SOX9
40 epiphyseal dysplasia, multiple, 5 10.1 COMP SLC26A2
41 osteogenesis imperfecta, type iv 10.1 COL1A1 COL1A2 CRTAP FKBP10
42 autosomal dominant disease 10.1 COL2A1 FGFR2 FGFR3 MSX2
43 bone disease 10.1 COL1A1 COL2A1 FGFR2 FGFR3 RUNX2
44 tympanosclerosis 10.1 COL1A1 COL2A1
45 scoliosis 10.1 COL1A1 COL1A2 COL2A1 FGFR3 RUNX2
46 chromosome 2q35 duplication syndrome 10.1 FGFR2 FGFR3 HOXD13 PIK3R2
47 spondyloepiphyseal dysplasia with congenital joint dislocations 10.1 COL2A1 FGFR3 RNU4ATAC SLC26A2 SMARCAL1
48 synovial chondromatosis 10.1 COL1A1 COL2A1 FGFR3 RUNX2 SOX9
49 hypospadias 10.1 FGFR2 HOXD13 SOX9
50 achondroplasia 10.1 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:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.48 COL1A1 COL1A2 COL2A1 COMP CRTAP FGFR2
2 cellular MP:0005384 10.34 COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
3 cardiovascular system MP:0005385 10.31 COL1A1 COL1A2 COL2A1 COMP FGFR2 FKBP10
4 homeostasis/metabolism MP:0005376 10.31 COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
5 limbs/digits/tail MP:0005371 10.31 COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
6 craniofacial MP:0005382 10.29 COL1A1 COL2A1 FGFR2 FGFR3 FKBP10 IFITM5
7 mortality/aging MP:0010768 10.25 COL1A1 COL1A2 COL2A1 FGFR2 FGFR3 FKBP10
8 digestive/alimentary MP:0005381 10.19 COL1A1 COL2A1 FGFR2 FGFR3 HOXD13 MSX2
9 immune system MP:0005387 10.18 COL1A1 COL2A1 COMP FGFR2 FGFR3 IFITM5
10 integument MP:0010771 10.11 COL1A1 COL1A2 FGFR2 FGFR3 HOXD13 MSX2
11 muscle MP:0005369 10.07 COL1A1 COL1A2 COMP FGFR2 HOXD13 MSX2
12 adipose tissue MP:0005375 10.05 COL1A1 COL1A2 COL2A1 FGFR2 P3H1 SOX9
13 hearing/vestibular/ear MP:0005377 10.05 COL1A1 COL2A1 FGFR2 FGFR3 MSX2 P3H1
14 skeleton MP:0005390 9.89 COL1A1 COL1A2 COL2A1 COMP CRTAP FGFR2
15 no phenotypic analysis MP:0003012 9.87 COL1A1 FGFR2 FGFR3 HOXD13 RUNX2 SMARCAL1
16 normal MP:0002873 9.86 COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
17 renal/urinary system MP:0005367 9.7 COL1A1 COL2A1 FGFR2 FGFR3 HOXD13 SMARCAL1
18 vision/eye MP:0005391 9.23 COL1A1 COL2A1 FGFR2 FGFR3 HOXD13 MSX2

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

MalaCards organs/tissues related to Bone Development Disease:

41
Bone, Lung

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

19
Bone Or

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 COL1A1 COL1A2 COL2A1 FGFR2 FGFR3 PIK3R2
2
Show member pathways
12.7 COL1A1 COL1A2 COL2A1 COMP PIK3R2
3
Show member pathways
12.61 COL1A1 COL1A2 COL2A1 CRTAP P3H1
4
Show member pathways
12.54 COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
5
Show member pathways
12.39 COL1A1 COL1A2 COL2A1 COMP CRTAP P3H1
6
Show member pathways
11.88 COL1A1 COL1A2 COL2A1 COMP
7 11.7 COL1A1 COL1A2 PIK3R2
8 11.67 COL1A1 COL1A2 PIK3R2
9 11.45 FGFR2 FGFR3 PIK3R2
10 11.39 COL1A1 COL1A2 COL2A1
11 11.14 COL1A1 COL1A2 RUNX2
12 11.07 COL2A1 FGFR3 RUNX2 SOX9
13 11.03 COL2A1 FGFR2 FGFR3 MSX2 SOX9
14 10.7 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 collagen-containing extracellular matrix GO:0062023 9.62 COL1A1 COL1A2 COL2A1 COMP
2 extracellular matrix GO:0031012 9.55 COL1A1 COL1A2 COL2A1 COMP FGFR2
3 collagen trimer GO:0005581 9.43 COL1A1 COL1A2 COL2A1
4 endoplasmic reticulum lumen GO:0005788 9.1 COL1A1 COL1A2 COL2A1 CRTAP FKBP10 P3H1
5 collagen type I trimer GO:0005584 8.96 COL1A1 COL1A2

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 9.88 FGFR2 FGFR3 PIK3R2
3 wound healing GO:0042060 9.87 COL1A1 FGFR2 MSX2
4 cartilage development GO:0051216 9.85 COL2A1 MSX2 SOX9
5 cellular response to retinoic acid GO:0071300 9.84 COL1A1 FGFR2 SOX9
6 osteoblast differentiation GO:0001649 9.84 COL1A1 MSX2 RUNX2 SHOX2
7 cellular response to transforming growth factor beta stimulus GO:0071560 9.83 COL1A1 FGFR2 SOX9
8 embryonic limb morphogenesis GO:0030326 9.8 HOXD13 MSX2 SHOX2
9 bone development GO:0060348 9.8 COL2A1 FGFR2 P3H1
10 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.78 FGFR2 FGFR3 PIK3R2
11 collagen fibril organization GO:0030199 9.76 COL1A1 COL1A2 COL2A1
12 skeletal system morphogenesis GO:0048705 9.76 COL1A1 COL2A1 FGFR2 RUNX2
13 bone mineralization GO:0030282 9.75 FGFR2 FGFR3 IFITM5
14 cellular response to BMP stimulus GO:0071773 9.74 COL2A1 RUNX2 SOX9
15 odontogenesis GO:0042476 9.73 COL1A2 FGFR2 MSX2
16 embryonic forelimb morphogenesis GO:0035115 9.72 MSX2 RUNX2 SHOX2
17 osteoblast development GO:0002076 9.7 MSX2 RUNX2
18 embryonic digestive tract morphogenesis GO:0048557 9.7 FGFR2 SHOX2
19 positive regulation of mesenchymal cell proliferation GO:0002053 9.7 FGFR2 SHOX2 SOX9
20 prostate gland development GO:0030850 9.69 HOXD13 SOX9
21 regulation of osteoblast differentiation GO:0045667 9.69 FGFR2 RUNX2
22 protein heterotrimerization GO:0070208 9.68 COL1A1 COL1A2
23 notochord development GO:0030903 9.68 COL2A1 SOX9
24 embryonic skeletal joint morphogenesis GO:0060272 9.68 COL2A1 SHOX2
25 gland morphogenesis GO:0022612 9.67 FGFR2 HOXD13
26 skin morphogenesis GO:0043589 9.67 COL1A1 COL1A2
27 bone morphogenesis GO:0060349 9.67 FGFR2 FGFR3 IFITM5 MSX2
28 bone trabecula formation GO:0060346 9.66 COL1A1 MSX2
29 positive regulation of phospholipase activity GO:0010518 9.66 FGFR2 FGFR3
30 lacrimal gland development GO:0032808 9.65 FGFR2 SOX9
31 otic vesicle development GO:0071599 9.65 COL2A1 SOX9
32 limb bud formation GO:0060174 9.65 COL2A1 FGFR2 SOX9
33 otic vesicle formation GO:0030916 9.64 FGFR2 SOX9
34 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.64 FGFR2 HOXD13
35 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.63 FGFR2 RUNX2
36 heart valve development GO:0003170 9.62 SHOX2 SOX9
37 endochondral ossification GO:0001958 9.62 COL1A1 COL2A1 FGFR3 RUNX2
38 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.61 FGFR2 HOXD13
39 endochondral bone growth GO:0003416 9.61 FGFR2 FGFR3 MSX2
40 anterior head development GO:0097065 9.6 COL2A1 SOX9
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 negative regulation of apoptotic process GO:0043066 10.09 COMP FGFR2 FGFR3 MSX2 SOX9

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

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.58 COL1A1 COL1A2 COMP
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.54 FGFR2 FGFR3 PIK3R2
3 1-phosphatidylinositol-3-kinase activity GO:0016303 9.43 FGFR2 FGFR3 PIK3R2
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.33 COL1A1 COL1A2 COL2A1
5 fibroblast growth factor-activated receptor activity GO:0005007 9.32 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
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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