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 spondylocarpotarsal synostosis syndrome and dysostosis. An important gene associated with Bone Development Disease is RNU4ATAC (RNA, U4atac Small Nuclear (U12-Dependent Splicing)), and among its related pathways/superpathways are ERK Signaling and Phospholipase-C Pathway. Affiliated tissues include bone, cartilage and heart, and related phenotypes are growth/size/body region and cardiovascular system

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 128)
# Related Disease Score Top Affiliating Genes
1 spondylocarpotarsal synostosis syndrome 32.1 SLC26A2 P3H1 MSX2 CRTAP
2 dysostosis 31.9 RUNX2 RNU4ATAC MSX2 IHH H2AC18 GDF5
3 osteochondrodysplasia 31.5 SOX9 SLC26A2 SHOX RUNX2 RNU4ATAC P3H1
4 du pan syndrome 10.9
5 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.9
6 eiken syndrome 10.9
7 saul-wilson syndrome 10.9
8 asphyxiating thoracic dystrophy 10.9
9 vitamin d-dependent rickets 10.9
10 split hand-foot malformation 10.9
11 geleophysic dysplasia 10.9
12 otopalatodigital syndrome spectrum disorder 10.9
13 shox-related short stature 10.9
14 clubfoot 10.9
15 ehlers-danlos/osteogenesis imperfecta syndrome 10.6 COL1A2 COL1A1
16 osteogenesis imperfecta, type i 10.6 CRTAP COL1A2 COL1A1
17 col1a1/2 osteogenesis imperfecta 10.6 COL1A2 COL1A1
18 fgfr craniosynostosis syndromes 10.6 FGFR3 FGFR2 FGFR1
19 hemifacial hyperplasia 10.6 FGFR3 FGFR2
20 plagiocephaly 10.6 FGFR3 FGFR2 FGFR1
21 high bone mass osteogenesis imperfecta 10.5 COL1A2 COL1A1
22 pigmentation disease 10.5 RNU4ATAC FGFR3 FGFR2
23 achondroplasia, severe, with developmental delay and acanthosis nigricans 10.5 FGFR3 FGFR2 FGFR1
24 deafness, autosomal recessive 71 10.5 FGFR3 FGFR2 FGFR1
25 cole-carpenter syndrome 10.5 MIA2 CRTAP COL1A2
26 arthrochalasia ehlers-danlos syndrome 10.5 COL1A2 COL1A1
27 fibrogenesis imperfecta ossium 10.5 P3H1 CRTAP COL1A2 COL1A1
28 larsen-like syndrome 10.5 COL1A2 COL1A1
29 osteoglophonic dysplasia 10.5 FGFR3 FGFR2 FGFR1
30 radioulnar synostosis 10.5 RNU4ATAC FGFR3 FGFR2 FGFR1
31 collagen disease 10.5 H2AC18 COL2A1 COL1A2 COL1A1
32 osteogenesis imperfecta, type vii 10.5 P3H1 CRTAP COL1A2 COL1A1
33 osteoporosis, juvenile 10.5 RUNX2 COL1A2 COL1A1
34 epiphyseal dysplasia, multiple, 1 10.5 SLC26A2 MIA2 COMP
35 spinal stenosis 10.5 COL2A1 COL1A2 COL1A1
36 bone resorption disease 10.5 RUNX2 H2AC18 COL1A2 COL1A1
37 hypertelorism, microtia, facial clefting syndrome 10.5 MSX2 FGFR3 FGFR2 FGFR1
38 ischemic bone disease 10.5 RUNX2 COL2A1 COL1A1
39 bone remodeling disease 10.5 RUNX2 H2AC18 COL1A2 COL1A1
40 bruck syndrome 10.5 P3H1 CRTAP COL1A2 COL1A1
41 achondrogenesis 10.5 SLC26A2 FGFR3 COMP COL2A1
42 muenke syndrome 10.5 MSX2 FGFR3 FGFR2 FGFR1
43 acromesomelic dysplasia 10.5 SHOX GDF5 FGFR3 COL2A1
44 spondyloepimetaphyseal dysplasia 10.5 SOX9 RNU4ATAC COL2A1 COL1A2
45 chondroblastoma 10.5 SOX9 H2AC18 FGFR3 FGFR1
46 acromesomelic dysplasia, maroteaux type 10.5 SHOX GDF5 FGFR3
47 osteogenesis imperfecta, type iv 10.5 P3H1 CRTAP COL1A2 COL1A1
48 antley-bixler syndrome 10.5 FGFR3 FGFR2 FGFR1
49 bone deterioration disease 10.5 SOX9 GDF5 COL2A1 COL1A1
50 dentinogenesis imperfecta 10.5 P3H1 CRTAP COL1A2 COL1A1

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 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.33 COL1A1 COL1A2 COL2A1 COMP CRTAP FGFR1
2 cardiovascular system MP:0005385 10.26 COL1A1 COL1A2 COL2A1 COMP FGFR1 FGFR2
3 cellular MP:0005384 10.25 COL1A1 COL1A2 COL2A1 COMP FGFR1 FGFR2
4 limbs/digits/tail MP:0005371 10.21 COL1A1 COL1A2 COL2A1 COMP FGFR1 FGFR2
5 craniofacial MP:0005382 10.19 COL1A1 COL2A1 FGFR1 FGFR2 FGFR3 IHH
6 digestive/alimentary MP:0005381 10.13 COL1A1 COL2A1 FGFR1 FGFR2 FGFR3 IHH
7 integument MP:0010771 10.06 COL1A1 COL1A2 FGFR1 FGFR2 FGFR3 MSX2
8 muscle MP:0005369 10.02 COL1A1 COL1A2 COMP FGFR1 FGFR2 IHH
9 hearing/vestibular/ear MP:0005377 9.98 COL1A1 COL2A1 FGFR1 FGFR2 FGFR3 MSX2
10 skeleton MP:0005390 9.83 COL1A1 COL1A2 COL2A1 COMP CRTAP FGFR1
11 normal MP:0002873 9.81 COL1A1 COL1A2 COL2A1 COMP FGFR1 FGFR2
12 no phenotypic analysis MP:0003012 9.8 COL1A1 FGFR1 FGFR2 FGFR3 IHH RUNX2
13 vision/eye MP:0005391 9.28 COL1A1 COL2A1 FGFR1 FGFR2 FGFR3 IHH

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, Heart

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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 SOX9 IHH GDF5 FGFR3 FGFR2 FGFR1
2
Show member pathways
12.87 GDF5 FGFR3 FGFR2 FGFR1 COL2A1 COL1A2
3
Show member pathways
12.78 FGFR3 FGFR2 FGFR1 COMP COL2A1 COL1A2
4
Show member pathways
12.71 P3H1 CRTAP COL2A1 COL1A2 COL1A1
5
Show member pathways
12.52 P3H1 GDF5 CRTAP COMP COL2A1 COL1A2
6 12.15 IHH FGFR1 COL1A2 COL1A1
7
Show member pathways
11.97 COMP COL2A1 COL1A2 COL1A1
8 11.7 FGFR3 FGFR2 FGFR1
9 11.64 SOX9 FGFR3 FGFR1
10 11.57 FGFR3 FGFR2 FGFR1
11 11.53 SOX9 RUNX2 MSX2 GDF5 COL2A1
12 11.49 COL2A1 COL1A2 COL1A1
13 11.44 SOX9 MSX2 FGFR3 FGFR2 FGFR1 COL2A1
14 11.36 RUNX2 FGFR2 FGFR1
15 11.32 FGFR3 FGFR2 FGFR1
16 11.27 FGFR3 FGFR2 FGFR1
17 11.15 RUNX2 IHH COL1A2 COL1A1
18 10.91 SOX9 RUNX2 IHH FGFR3 FGFR1 COL2A1
19 10.82 GDF5 FGFR3 FGFR2 FGFR1 COL2A1 COL1A2

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 endoplasmic reticulum lumen GO:0005788 9.72 P3H1 CRTAP COL2A1 COL1A2 COL1A1
2 extracellular region GO:0005576 9.7 P3H1 IHH GDF5 FGFR3 FGFR2 FGFR1
3 extracellular matrix GO:0031012 9.65 IHH COMP COL2A1 COL1A2 COL1A1
4 collagen trimer GO:0005581 9.54 COL2A1 COL1A2 COL1A1
5 collagen type I trimer GO:0005584 9.16 COL1A2 COL1A1
6 collagen-containing extracellular matrix GO:0062023 9.1 P3H1 FGFR2 COMP COL2A1 COL1A2 COL1A1

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

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.07 SOX9 RUNX2 IHH FGFR3 FGFR2 FGFR1
2 regulation of gene expression GO:0010468 10.02 SOX9 RUNX2 IHH COMP COL2A1
3 cell-cell signaling GO:0007267 9.99 IHH GDF5 FGFR3 FGFR2
4 extracellular matrix organization GO:0030198 9.97 SOX9 COMP COL2A1 COL1A2 COL1A1
5 osteoblast differentiation GO:0001649 9.88 RUNX2 MSX2 IHH COL1A1
6 BMP signaling pathway GO:0030509 9.87 RUNX2 GDF5 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 9.86 SOX9 FGFR2 COL1A1
10 negative regulation of epithelial cell proliferation GO:0050680 9.85 SOX9 GDF5 FGFR2
11 positive regulation of epithelial cell proliferation GO:0050679 9.85 SOX9 IHH FGFR2
12 response to mechanical stimulus GO:0009612 9.85 IHH GDF5 COL1A1
13 cellular response to transforming growth factor beta stimulus GO:0071560 9.83 SOX9 FGFR2 COL1A1
14 bone development GO:0060348 9.82 P3H1 FGFR2 COL2A1
15 regulation of cell differentiation GO:0045595 9.81 SOX9 RUNX2 FGFR1
16 epithelial to mesenchymal transition GO:0001837 9.8 SOX9 FGFR2 FGFR1
17 cellular response to BMP stimulus GO:0071773 9.77 SOX9 RUNX2 COL2A1
18 bone morphogenesis GO:0060349 9.76 FGFR3 FGFR2 COMP
19 bone mineralization GO:0030282 9.73 FGFR3 FGFR2 COMP COL1A2
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.72 SOX9 IHH FGFR2
21 cartilage development GO:0051216 9.72 SOX9 IHH GDF5 COMP COL2A1
22 embryonic digestive tract morphogenesis GO:0048557 9.71 IHH FGFR2
23 chondrocyte development GO:0002063 9.71 SOX9 RUNX2 COMP
24 chondrocyte differentiation GO:0002062 9.71 SOX9 RUNX2 FGFR3 COL2A1
25 regulation of osteoblast differentiation GO:0045667 9.7 RUNX2 FGFR2
26 collagen metabolic process GO:0032963 9.7 P3H1 COL1A2
27 skin morphogenesis GO:0043589 9.7 COL1A2 COL1A1
28 positive regulation of chondrocyte differentiation GO:0032332 9.7 SOX9 RUNX2 GDF5
29 notochord development GO:0030903 9.69 SOX9 COL2A1
30 chondrocyte proliferation GO:0035988 9.69 IHH FGFR3 COMP
31 proteoglycan metabolic process GO:0006029 9.68 IHH COL2A1
32 otic vesicle development GO:0071599 9.67 SOX9 COL2A1
33 limb bud formation GO:0060174 9.67 SOX9 FGFR2 COL2A1
34 endochondral ossification GO:0001958 9.67 RUNX2 FGFR3 COL2A1 COL1A1
35 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.66 COL2A1 COL1A1
36 lacrimal gland development GO:0032808 9.66 SOX9 FGFR2
37 otic vesicle formation GO:0030916 9.65 SOX9 FGFR2
38 positive regulation of phospholipase activity GO:0010518 9.65 FGFR3 FGFR2 FGFR1
39 collagen fibril organization GO:0030199 9.65 CRTAP COMP COL2A1 COL1A2 COL1A1
40 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.64 SOX9 GDF5
41 positive regulation of chondrocyte proliferation GO:1902732 9.64 SOX9 COMP
42 chondrocyte differentiation involved in endochondral bone morphogenesis GO:0003413 9.63 SOX9 IHH
43 endochondral bone growth GO:0003416 9.63 FGFR3 FGFR2 COMP
44 anterior head development GO:0097065 9.61 SOX9 COL2A1
45 prostate gland morphogenesis GO:0060512 9.61 SOX9 FGFR2
46 negative regulation of post-translational protein modification GO:1901874 9.56 P3H1 CRTAP
47 ossification GO:0001503 9.56 SOX9 SLC26A2 RUNX2 MSX2 IHH COMP
48 skeletal system morphogenesis GO:0048705 9.55 RUNX2 FGFR2 FGFR1 COL2A1 COL1A1
49 skeletal system development GO:0001501 9.32 SOX9 SHOX RUNX2 IHH FGFR3 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 9.65 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 9.46 COMP COL2A1
7 BMP binding GO:0036122 9.43 GDF5 COMP
8 fibroblast growth factor binding GO:0017134 9.33 FGFR3 FGFR2 FGFR1
9 platelet-derived growth factor binding GO:0048407 9.13 COL2A1 COL1A2 COL1A1
10 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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