MCID: BND014
MIFTS: 33

Bone Development Disease

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Bone Development Disease

MalaCards integrated aliases for Bone Development Disease:

Name: Bone Development Disease 12 15 17

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 odontochondrodysplasia. 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 Collagen chain trimerization. Affiliated tissues include bone and cartilage, and related phenotypes are growth/size/body region and behavior/neurological

Related Diseases for Bone Development Disease

Diseases in the Bone Development Disease family:

Rare Bone Development Disorder

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

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 dysostosis 32.1 RUNX2 RNU4ATAC MSX2 HOXD13 H2AC18 FGFR3
2 odontochondrodysplasia 31.6 TRAPPC2 SOX9 SLC26A2 SHOX RUNX2 RNU4ATAC
3 du pan syndrome 10.9
4 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.9
5 spondylocarpotarsal synostosis syndrome 10.9
6 eiken syndrome 10.9
7 saul-wilson syndrome 10.9
8 asphyxiating thoracic dystrophy 10.9
9 split hand-foot malformation 10.9
10 geleophysic dysplasia 10.9
11 otopalatodigital syndrome spectrum disorder 10.9
12 clubfoot 10.9
13 osteogenesis imperfecta, type i 10.8 CRTAP COL1A2 COL1A1
14 ehlers-danlos/osteogenesis imperfecta syndrome 10.8 COL1A2 COL1A1
15 col1a1/2 osteogenesis imperfecta 10.8 COL1A2 COL1A1
16 fgfr craniosynostosis syndromes 10.8 FGFR3 FGFR2 FGFR1
17 plagiocephaly 10.7 FGFR3 FGFR2 FGFR1
18 hemifacial hyperplasia 10.7 FGFR3 FGFR2
19 fibrogenesis imperfecta ossium 10.7 P3H1 CRTAP COL1A2
20 skeletal dysplasias 10.7 FGFR3 COMP COL2A1
21 pigmentation disease 10.7 RNU4ATAC FGFR3 FGFR2
22 high bone mass osteogenesis imperfecta 10.7 COL1A2 COL1A1
23 caffey disease 10.7 COL2A1 COL1A2 COL1A1
24 osteoglophonic dysplasia 10.7 FGFR3 FGFR2 FGFR1
25 radioulnar synostosis 10.7 RNU4ATAC FGFR3 FGFR2 FGFR1
26 epiphyseal dysplasia, multiple, 1 10.7 SLC26A2 MIA2 COMP
27 acromesomelic dysplasia 10.7 SHOX FGFR3 COL2A1
28 collagen disease 10.7 H2AC18 COL2A1 COL1A2 COL1A1
29 osteoporosis, juvenile 10.7 RUNX2 COL1A2 COL1A1
30 enchondromatosis, multiple, ollier type 10.7 RUNX2 FGFR3 COL2A1
31 cole-carpenter syndrome 10.7 P3H1 MIA2 CRTAP COL1A2
32 larsen-like syndrome 10.7 COL1A2 COL1A1
33 bruck syndrome 10.7 P3H1 CRTAP COL1A2 COL1A1
34 boomerang dysplasia 10.7 SLC26A2 P3H1 CRTAP
35 hypertelorism, microtia, facial clefting syndrome 10.7 MSX2 FGFR3 FGFR2 FGFR1
36 choanal atresia, posterior 10.7 FGFR2 FGFR1 CFAP47
37 stickler syndrome 10.7 SOX9 COL2A1 COL1A2 COL1A1
38 achondroplasia, severe, with developmental delay and acanthosis nigricans 10.7 TRAPPC2 FGFR3 FGFR2 FGFR1
39 cartilage disease 10.7 SOX9 RUNX2 COMP COL2A1
40 ehlers-danlos syndrome, arthrochalasia type, 2 10.7 COL1A2 COL1A1
41 spondyloepiphyseal dysplasia congenita 10.7 TRAPPC2 COMP COL2A1
42 bone resorption disease 10.7 RUNX2 H2AC18 COL1A2 COL1A1
43 ischemic bone disease 10.7 RUNX2 COL2A1 COL1A1
44 brachyolmia 10.7 SOX9 SLC26A2 COL2A1
45 muenke syndrome 10.7 MSX2 FGFR3 FGFR2 FGFR1
46 dentinogenesis imperfecta 10.7 P3H1 CRTAP COL1A2 COL1A1
47 type i ehlers-danlos syndrome 10.7 COL1A2 COL1A1
48 bone remodeling disease 10.7 RUNX2 H2AC18 COL1A2 COL1A1
49 osteogenesis imperfecta, type iv 10.7 P3H1 CRTAP COL1A2 COL1A1
50 chondroblastoma 10.7 SOX9 H2AC18 FGFR3 FGFR1

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:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.32 COL1A1 COL1A2 COL2A1 COMP CRTAP FGFR1
2 behavior/neurological MP:0005386 10.26 COL1A1 COL1A2 COL2A1 COMP FGFR1 FGFR2
3 limbs/digits/tail MP:0005371 10.22 COL1A1 COL1A2 COL2A1 COMP FGFR1 FGFR2
4 craniofacial MP:0005382 10.16 COL1A1 COL2A1 FGFR1 FGFR2 FGFR3 MSX2
5 digestive/alimentary MP:0005381 10.15 COL1A1 COL2A1 FGFR1 FGFR2 FGFR3 HOXD13
6 integument MP:0010771 10.13 COL1A1 COL1A2 FGFR1 FGFR2 FGFR3 HOXD13
7 muscle MP:0005369 10.07 COL1A1 COL1A2 COMP FGFR1 FGFR2 HOXD13
8 hearing/vestibular/ear MP:0005377 10 COL1A1 COL2A1 FGFR1 FGFR2 FGFR3 MSX2
9 normal MP:0002873 9.91 COL1A1 COL1A2 COL2A1 COMP FGFR1 FGFR2
10 no phenotypic analysis MP:0003012 9.87 COL1A1 FGFR1 FGFR2 FGFR3 HOXD13 RUNX2
11 skeleton MP:0005390 9.8 COL1A1 COL1A2 COL2A1 COMP CRTAP FGFR1
12 renal/urinary system MP:0005367 9.7 COL1A1 COL2A1 FGFR1 FGFR2 FGFR3 HOXD13
13 vision/eye MP:0005391 9.32 COL1A1 COL1A2 COL2A1 FGFR1 FGFR2 FGFR3

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:

19
Bone, Cartilage

MalaCards organs/tissues related to Bone Development Disease:

40
Bone

Publications for Bone Development Disease

Articles related to Bone Development Disease:

# Title Authors PMID Year
1
Genome-wide screening of functional long noncoding RNAs in the epicardial adipose tissues of atrial fibrillation. 61
32147422 2020
2
Fate of growth plate hypertrophic chondrocytes: death or lineage extension? 61
25714187 2015
3
Bone tissue engineering with human stem cells. 61
20637059 2010

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 FGFR3 FGFR2 FGFR1 COL2A1 COL1A2 COL1A1
2
Show member pathways
12.68 P3H1 CRTAP COL2A1 COL1A2 COL1A1
3
Show member pathways
12.53 FGFR3 FGFR2 FGFR1 COMP COL2A1 COL1A2
4
Show member pathways
12.39 P3H1 CRTAP COMP COL2A1 COL1A2 COL1A1
5
Show member pathways
11.95 COMP COL2A1 COL1A2 COL1A1
6 11.69 FGFR3 FGFR2 FGFR1
7 11.62 SOX9 FGFR3 FGFR1
8 11.6 SOX9 RUNX2 MSX2 COL2A1
9 11.56 FGFR3 FGFR2 FGFR1
10 11.47 COL2A1 COL1A2 COL1A1
11 11.34 RUNX2 FGFR2 FGFR1
12 11.31 FGFR3 FGFR2 FGFR1
13 11.24 FGFR3 FGFR2 FGFR1
14 11.17 RUNX2 COL1A2 COL1A1
15 11.17 SOX9 RUNX2 FGFR3 FGFR1 COL2A1
16 11.11 SOX9 MSX2 FGFR3 FGFR2 FGFR1 COL2A1
17 10.75 FGFR3 FGFR2 FGFR1 COL2A1 COL1A2 COL1A1

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 region GO:0005576 9.91 P3H1 FGFR3 FGFR2 FGFR1 CRTAP COMP
2 nuclear chromatin GO:0000790 9.8 SOX9 SHOX RUNX2 MSX2 HOXD13 H2AC18
3 extracellular matrix GO:0031012 9.71 COMP COL2A1 COL1A2 COL1A1
4 endoplasmic reticulum lumen GO:0005788 9.55 P3H1 CRTAP COL2A1 COL1A2 COL1A1
5 collagen trimer GO:0005581 9.54 COL2A1 COL1A2 COL1A1
6 collagen-containing extracellular matrix GO:0062023 9.1 P3H1 FGFR2 COMP COL2A1 COL1A2 COL1A1
7 collagen type I trimer GO:0005584 8.96 COL1A2 COL1A1

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

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.1 SOX9 RUNX2 FGFR3 FGFR2 FGFR1
2 regulation of gene expression GO:0010468 10.01 SOX9 RUNX2 FGFR1 COMP COL2A1
3 extracellular matrix organization GO:0030198 9.96 SOX9 COMP COL2A1 COL1A2 COL1A1
4 osteoblast differentiation GO:0001649 9.89 RUNX2 MSX2 COL1A1
5 wound healing GO:0042060 9.89 MSX2 FGFR2 COL1A1
6 BMP signaling pathway GO:0030509 9.88 RUNX2 MSX2 COMP
7 fibroblast growth factor receptor signaling pathway GO:0008543 9.87 FGFR3 FGFR2 FGFR1
8 positive regulation of kinase activity GO:0033674 9.86 FGFR3 FGFR2 FGFR1
9 cellular response to retinoic acid GO:0071300 9.85 SOX9 FGFR2 COL1A1
10 inner ear morphogenesis GO:0042472 9.84 FGFR2 FGFR1 COL2A1
11 bone development GO:0060348 9.84 P3H1 FGFR2 COL2A1
12 cellular response to transforming growth factor beta stimulus GO:0071560 9.83 SOX9 FGFR2 COL1A1
13 cartilage development GO:0051216 9.83 SOX9 MSX2 COMP COL2A1
14 embryonic limb morphogenesis GO:0030326 9.82 MSX2 HOXD13 FGFR1
15 regulation of cell differentiation GO:0045595 9.79 SOX9 RUNX2 FGFR1
16 epithelial to mesenchymal transition GO:0001837 9.78 SOX9 FGFR2 FGFR1
17 bone mineralization GO:0030282 9.78 FGFR3 FGFR2 COMP COL1A2
18 cellular response to BMP stimulus GO:0071773 9.77 SOX9 RUNX2 COL2A1
19 collagen fibril organization GO:0030199 9.77 CRTAP COMP COL2A1 COL1A2 COL1A1
20 odontogenesis GO:0042476 9.76 MSX2 FGFR2 COL1A2
21 bone morphogenesis GO:0060349 9.76 MSX2 FGFR3 FGFR2 COMP
22 endochondral ossification GO:0001958 9.73 RUNX2 FGFR3 COL2A1 COL1A1
23 skeletal system morphogenesis GO:0048705 9.72 RUNX2 FGFR2 FGFR1 COL2A1 COL1A1
24 regulation of osteoblast differentiation GO:0045667 9.71 RUNX2 FGFR2
25 collagen metabolic process GO:0032963 9.71 P3H1 COL1A2
26 prostate gland development GO:0030850 9.71 SOX9 HOXD13
27 positive regulation of mesenchymal cell proliferation GO:0002053 9.71 SOX9 FGFR2 FGFR1
28 chondrocyte development GO:0002063 9.71 SOX9 RUNX2 MSX2 COMP
29 branching involved in salivary gland morphogenesis GO:0060445 9.7 FGFR2 FGFR1
30 chondrocyte proliferation GO:0035988 9.7 FGFR3 COMP
31 skin morphogenesis GO:0043589 9.7 COL1A2 COL1A1
32 notochord development GO:0030903 9.69 SOX9 COL2A1
33 mesenchymal cell differentiation GO:0048762 9.69 FGFR2 FGFR1
34 limb bud formation GO:0060174 9.69 SOX9 FGFR2 COL2A1
35 lung-associated mesenchyme development GO:0060484 9.68 FGFR2 FGFR1
36 gland morphogenesis GO:0022612 9.68 HOXD13 FGFR2
37 otic vesicle development GO:0071599 9.67 SOX9 COL2A1
38 bone trabecula formation GO:0060346 9.67 MSX2 COL1A1
39 positive regulation of phospholipase activity GO:0010518 9.67 FGFR3 FGFR2 FGFR1
40 lacrimal gland development GO:0032808 9.65 SOX9 FGFR2
41 otic vesicle formation GO:0030916 9.65 SOX9 FGFR2
42 chondrocyte differentiation GO:0002062 9.65 SOX9 RUNX2 FGFR3 FGFR1 COL2A1
43 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.64 HOXD13 FGFR2
44 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.64 COL2A1 COL1A1
45 positive regulation of chondrocyte proliferation GO:1902732 9.63 SOX9 COMP
46 anterior head development GO:0097065 9.63 SOX9 COL2A1
47 prostate gland morphogenesis GO:0060512 9.62 SOX9 FGFR2
48 orbitofrontal cortex development GO:0021769 9.6 FGFR2 FGFR1
49 negative regulation of post-translational protein modification GO:1901874 9.58 P3H1 CRTAP
50 ventricular zone neuroblast division GO:0021847 9.57 FGFR2 FGFR1

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 9.63 COMP COL1A2 COL1A1
2 collagen binding GO:0005518 9.58 P3H1 CRTAP COMP
3 extracellular matrix structural constituent GO:0005201 9.56 COMP COL2A1 COL1A2 COL1A1
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.54 FGFR3 FGFR2 FGFR1
5 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.5 COL2A1 COL1A2 COL1A1
6 proteoglycan binding GO:0043394 9.43 COMP COL2A1
7 fibroblast growth factor binding GO:0017134 9.33 FGFR3 FGFR2 FGFR1
8 platelet-derived growth factor binding GO:0048407 9.13 COL2A1 COL1A2 COL1A1
9 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR3 FGFR2 FGFR1

Sources for Bone Development 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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