MCID: BND014
MIFTS: 31

Bone Development Disease

Categories: Bone diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Bone Development Disease

MalaCards integrated aliases for Bone Development Disease:

Name: Bone Development Disease 11 14 16

Classifications:



External Ids:

Disease Ontology 11 DOID:0080006

Summaries for Bone Development Disease

Disease Ontology: 11 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 shox-related short stature and dysostosis. An important gene associated with Bone Development Disease is RNU4ATAC (RNA, U4atac Small Nuclear), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Signaling by Receptor Tyrosine Kinases. Affiliated tissues include bone and cartilage, and related phenotypes are limbs/digits/tail and growth/size/body region

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 142)
# Related Disease Score Top Affiliating Genes
1 shox-related short stature 32.0 SLC26A2 SHOX
2 dysostosis 32.0 RUNX2 RNU4ATAC MSX2 IHH H2AC18 FGFR3
3 osteochondrodysplasia 31.6 SOX9 SLC26A2 SHOX RUNX2 RNU4ATAC P3H1
4 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.9
5 mandibuloacral dysplasia with type a lipodystrophy 10.9
6 spondylocarpotarsal synostosis syndrome 10.9
7 eiken syndrome 10.9
8 saul-wilson syndrome 10.9
9 asphyxiating thoracic dystrophy 10.9
10 vitamin d-dependent rickets 10.9
11 split hand-foot malformation 10.9
12 geleophysic dysplasia 10.9
13 otopalatodigital syndrome spectrum disorder 10.9
14 clubfoot 10.9
15 metaphyseal dysplasia 10.5 RUNX2 RNU4ATAC COL2A1
16 ehlers-danlos/osteogenesis imperfecta syndrome 10.5 COL1A2 COL1A1
17 osteogenesis imperfecta, type v 10.5 IFITM5 COL1A2 COL1A1
18 osteogenesis imperfecta, type vi 10.5 IFITM5 COL1A2 COL1A1
19 high bone mass osteogenesis imperfecta 10.5 COL1A2 COL1A1
20 osteogenesis imperfecta, type xi 10.5 CRTAP COL1A2 COL1A1
21 primary bone dysplasia 10.5 FGFR3 COL2A1 COL1A2 COL1A1
22 hypertelorism, microtia, facial clefting syndrome 10.5 MSX2 FGFR3 FGFR2
23 osteogenesis imperfecta, type xiv 10.5 P3H1 CRTAP COL1A2
24 achondroplasia, severe, with developmental delay and acanthosis nigricans 10.5 IHH FGFR3 FGFR2
25 osteogenesis imperfecta, type xix 10.5 P3H1 MIA2 CRTAP
26 acromesomelic dysplasia 1 10.5 SHOX FGFR3 COL2A1
27 fibrogenesis imperfecta ossium 10.5 P3H1 CRTAP COL1A2 COL1A1
28 hemifacial hyperplasia 10.5 FGFR3 FGFR2
29 localized scleroderma 10.5 H2AC18 COL1A2 COL1A1
30 metatropic dysplasia 10.5 SOX9 RUNX2 COL2A1
31 osteogenesis imperfecta, type ix 10.5 SLC26A2 P3H1 CRTAP
32 collagen disease 10.5 H2AC18 COL2A1 COL1A2 COL1A1
33 pigmentation disease 10.5 RNU4ATAC FGFR3 FGFR2
34 muenke syndrome 10.5 MSX2 FGFR3 FGFR2
35 hypochondrogenesis 10.5 SLC26A2 COMP COL2A1
36 ehlers-danlos syndrome, classic type, 1 10.5 P3H1 CRTAP COL1A2 COL1A1
37 ehlers-danlos syndrome, arthrochalasia type, 2 10.5 IFITM5 CRTAP COL1A2 COL1A1
38 plagiocephaly 10.5 FGFR3 FGFR2
39 achondrogenesis, type ii 10.5 SLC26A2 COMP COL2A1
40 metachondromatosis 10.5 SOX9 IHH COL2A1
41 acromesomelic dysplasia 10.5 SHOX IHH FGFR3 COL2A1
42 dentin dysplasia 10.5 MSX2 MIA2 COL1A2
43 breast scirrhous carcinoma 10.5 COL1A2 COL1A1
44 kniest dysplasia 10.5 SLC26A2 COMP COL2A1
45 epiphyseal dysplasia, multiple, 1 10.5 SLC26A2 MIA2 COMP COL1A1
46 stickler syndrome 10.5 SOX9 COL2A1 COL1A2 COL1A1
47 osteogenesis imperfecta, type vii 10.5 P3H1 IFITM5 CRTAP COL1A1
48 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.5 SLC26A2 H2AC18 COMP
49 endosteal hyperostosis, autosomal dominant 10.5 SOX9 CRTAP COL1A2 COL1A1
50 multiple epiphyseal dysplasia 10.5 SLC26A2 COMP COL2A1

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
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 10.25 COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
2 growth/size/body region MP:0005378 10.22 COL1A1 COL1A2 COL2A1 COMP CRTAP FGFR2
3 muscle MP:0005369 10.09 COL1A1 COL1A2 COMP FGFR2 IHH MSX2
4 digestive/alimentary MP:0005381 9.91 COL1A1 COL2A1 FGFR2 FGFR3 IHH MSX2
5 craniofacial MP:0005382 9.9 COL1A1 COL2A1 FGFR2 FGFR3 IFITM5 IHH
6 hearing/vestibular/ear MP:0005377 9.85 COL1A1 COL2A1 FGFR2 FGFR3 MSX2 SOX9
7 cellular MP:0005384 9.73 CFAP47 COL1A1 COL1A2 COL2A1 COMP FGFR2
8 skeleton MP:0005390 9.5 COL1A1 COL1A2 COL2A1 COMP CRTAP FGFR2

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

Organs/tissues related to Bone Development Disease:

FMA: Bone, Cartilage
MalaCards : 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. 62
32147422 2020
2
Fate of growth plate hypertrophic chondrocytes: death or lineage extension? 62
25714187 2015
3
Bone tissue engineering with human stem cells. 62
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 directly related to Bone Development Disease:

# Pathway Source
1 Signaling by FGFR in disease Reactome 66
2 Signaling by FGFR2 in disease Reactome 66
3 Signaling by FGFR3 in disease Reactome 66
4 Signaling by FGFR1 in disease Reactome 66
5 FGFR1 mutant receptor activation Reactome 66
6 Signaling by activated point mutants of FGFR1 Reactome 66
7 FGFR2 mutant receptor activation Reactome 66
8 Signaling by activated point mutants of FGFR3 Reactome 66
9 FGFR3 mutant receptor activation Reactome 66
10 Activated point mutants of FGFR2 Reactome 66

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 FGFR3 FGFR2 COMP COL2A1 COL1A2 COL1A1
2 12.7 FGFR3 FGFR2 COL2A1 COL1A2 COL1A1
3
Show member pathways
12.68 P3H1 CRTAP COL2A1 COL1A2 COL1A1
4
Show member pathways
12.55 P3H1 CRTAP COMP COL2A1 COL1A2 COL1A1
5 12.14 COMP COL2A1 COL1A2 COL1A1
6
Show member pathways
12.03 COMP COL2A1 COL1A2 COL1A1
7
Show member pathways
11.87 SOX9 RUNX2 IHH FGFR3 COL2A1
8 11.74 SOX9 RUNX2 MSX2 COL2A1
9 11.66 SOX9 MSX2 FGFR3 FGFR2 COL2A1
10 11.58 FGFR3 FGFR2 COL1A2 COL1A1
11 11.53 COL1A1 COL1A2 COL2A1
12
Show member pathways
11.52 COL1A1 IHH RUNX2
13 11.47 COL2A1 COL1A2 COL1A1
14 11.43 RUNX2 FGFR3 FGFR2
16 11.21 COL1A1 COL1A2 IHH RUNX2
17 11.08 FGFR3 IHH SOX9
18 10.89 FGFR3 FGFR2 COL2A1 COL1A2 COL1A1
19 10.87 P3H1 IFITM5 CRTAP COL1A2 COL1A1
20 10.8 SOX9 FGFR2
21 10.5 FGFR3 FGFR2 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 endoplasmic reticulum lumen GO:0005788 9.96 P3H1 CRTAP COL2A1 COL1A2 COL1A1
2 extracellular matrix GO:0031012 9.85 IHH COMP COL2A1 COL1A2 COL1A1
3 collagen-containing extracellular matrix GO:0062023 9.73 P3H1 FGFR2 COMP COL2A1 COL1A2 COL1A1
4 collagen type I trimer GO:0005584 8.92 COL1A2 COL1A1

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 10.23 SOX9 RUNX2 IHH COMP COL2A1
2 osteoblast differentiation GO:0001649 10.21 RUNX2 MSX2 IHH COL1A1
3 positive regulation of epithelial cell proliferation GO:0050679 10.14 SOX9 RUNX2 IHH FGFR2
4 collagen fibril organization GO:0030199 10.13 COL1A1 COL1A2 COL2A1 COMP CRTAP
5 endochondral ossification GO:0001958 10.08 RUNX2 FGFR3 COL2A1 COL1A1
6 cellular response to BMP stimulus GO:0071773 10.06 SOX9 RUNX2 COL2A1
7 positive regulation of mesenchymal cell proliferation GO:0002053 10.03 SOX9 IHH FGFR2
8 chondrocyte differentiation GO:0002062 10.02 SOX9 RUNX2 IHH FGFR3 COL2A1
9 chondrocyte proliferation GO:0035988 10 IHH FGFR3 COMP
10 cartilage development GO:0051216 10 SOX9 MSX2 IHH COMP COL2A1
11 odontogenesis GO:0042476 9.99 COL1A2 FGFR2 MSX2
12 limb bud formation GO:0060174 9.99 SOX9 FGFR2 COL2A1
13 positive regulation of chondrocyte proliferation GO:1902732 9.95 SOX9 COMP
14 chondrocyte development GO:0002063 9.95 SOX9 RUNX2 MSX2 COMP
15 bone trabecula formation GO:0060346 9.94 MSX2 COL1A1
16 positive regulation of phospholipase activity GO:0010518 9.94 FGFR3 FGFR2
17 otic vesicle formation GO:0030916 9.93 FGFR2 SOX9
18 bone mineralization GO:0030282 9.93 SOX9 IFITM5 FGFR3 FGFR2 COMP COL1A2
19 lacrimal gland development GO:0032808 9.92 FGFR2 SOX9
20 anterior head development GO:0097065 9.91 SOX9 COL2A1
21 chondrocyte differentiation involved in endochondral bone morphogenesis GO:0003413 9.9 SOX9 IHH
22 skeletal system morphogenesis GO:0048705 9.89 COL1A1 COL2A1 FGFR2 RUNX2
23 negative regulation of post-translational protein modification GO:1901874 9.88 P3H1 CRTAP
24 endochondral bone growth GO:0003416 9.87 COMP FGFR2 FGFR3 MSX2
25 bone morphogenesis GO:0060349 9.86 MSX2 IFITM5 FGFR3 FGFR2 COMP
26 otic vesicle development GO:0071599 9.79 SOX9 COL2A1
27 prostate gland morphogenesis GO:0060512 9.74 SOX9 FGFR2
28 ossification GO:0001503 9.7 COL1A1 COL2A1 COMP IHH MSX2 RUNX2
29 cellular response to endogenous stimulus GO:0071495 9.55 FGFR2 FGFR3
30 skeletal system development GO:0001501 9.55 SOX9 SHOX RUNX2 IHH FGFR3 COMP

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.86 COMP COL2A1 COL1A2 COL1A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.63 COL2A1 COL1A2 COL1A1
3 fibroblast growth factor receptor activity GO:0005007 9.26 FGFR3 FGFR2
4 platelet-derived growth factor binding GO:0048407 9.1 COL2A1 COL1A2 COL1A1

Sources for Bone Development Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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