Bone Development Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: BND014 MIFTS: 31	Bone Development Disease Categories: Bone diseases
Genes Tissues Related diseases Pathways Expand all tables

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Aliases & Classifications for Bone Development Disease

MalaCards integrated aliases for Bone Development Disease:

Name: Bone Development Disease ¹² ¹⁵

Classifications:

MalaCards categories:
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080006

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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

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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:

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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

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Drugs & Therapeutics for Bone Development Disease

Search Clinical Trials , NIH Clinical Center for Bone Development Disease

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Genetic Tests for Bone Development Disease

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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

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Publications for Bone Development Disease

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Genes for Bone Development Disease

Genes related to Bone Development Disease (0 elite genes):

(show all 27)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RNU4ATAC	RNA, U4atac Small Nuclear (U12-Dependent Splicing)	RNA Gene	21.72	DISEASES inferred ¹⁵ ¹⁵
2	SHOX2	Short Stature Homeobox 2	Protein Coding	19.47	DISEASES inferred ¹⁵ ¹⁵
3	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	19.38	DISEASES inferred ¹⁵
4	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	19.06	DISEASES inferred ¹⁵
5	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	18.96	DISEASES inferred ¹⁵
6	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	18.96	DISEASES inferred ¹⁵
7	SLC26A2	Solute Carrier Family 26 Member 2	Protein Coding	18.44	DISEASES inferred ¹⁵
8	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	18.41	DISEASES inferred ¹⁵
9	RUNX2	Runt Related Transcription Factor 2	Protein Coding	18.38	DISEASES inferred ¹⁵
10	SHOX	Short Stature Homeobox	Protein Coding	18.25	DISEASES inferred ¹⁵
11	COMP	Cartilage Oligomeric Matrix Protein	Protein Coding	18.18	DISEASES inferred ¹⁵
12	CRTAP	Cartilage Associated Protein	Protein Coding	18.08	DISEASES inferred ¹⁵
13	P3H1	Prolyl 3-Hydroxylase 1	Protein Coding	18.02	DISEASES inferred ¹⁵
14	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	17.98	DISEASES inferred ¹⁵ ¹⁵
15	SOX9	SRY-Box 9	Protein Coding	17.8	DISEASES inferred ¹⁵
16	FKBP10	FKBP Prolyl Isomerase 10	Protein Coding	17.72	DISEASES inferred ¹⁵
17	SMARCAL1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1	Protein Coding	17.7	DISEASES inferred ¹⁵
18	IFITM5	Interferon Induced Transmembrane Protein 5	Protein Coding	17.64	DISEASES inferred ¹⁵
19	MSX2	Msh Homeobox 2	Protein Coding	17.62	DISEASES inferred ¹⁵
20	HOXD13	Homeobox D13	Protein Coding	17.6	DISEASES inferred ¹⁵
21	GDF5	Growth Differentiation Factor 5	Protein Coding	7.37	DISEASES inferred ¹⁵
22	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	7.26	DISEASES inferred ¹⁵
23	MATN3	Matrilin 3	Protein Coding	7.22	DISEASES inferred ¹⁵
24	IHH	Indian Hedgehog	Protein Coding	7.18	DISEASES inferred ¹⁵
25	GLI3	GLI Family Zinc Finger 3	Protein Coding	7.14	DISEASES inferred ¹⁵
26	PPIB	Peptidylprolyl Isomerase B	Protein Coding	7.13	DISEASES inferred ¹⁵
27	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	7.1	DISEASES inferred ¹⁵

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Variations for Bone Development Disease

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Expression for Bone Development Disease

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

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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	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.85	COL1A1 COL1A2 COL2A1 FGFR2 FGFR3 PIK3R2
2	Focal Adhesion ¹ ³⁷ Show member pathways HGF Pathway ⁶⁴ Integrin-mediated Cell Adhesion ¹	12.7	COL1A1 COL1A2 COL2A1 COMP PIK3R2
3	Collagen chain trimerization ⁶⁶ Show member pathways Anchoring fibril formation ⁶⁶ Assembly of collagen fibrils and other multimeric structures ⁶⁶ Blood Coagulation Cascade ⁶⁴ Collagen biosynthesis and modifying enzymes ⁶⁶ Collagen formation ⁶⁶ Crosslinking of collagen fibrils ⁶⁶ Intrinsic Prothrombin Activation Pathway ⁶⁴ Protein digestion and absorption ³⁷	12.61	COL1A1 COL1A2 COL2A1 CRTAP P3H1
4	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	12.54	COL1A1 COL1A2 COL2A1 COMP FGFR2 FGFR3
5	Degradation of the extracellular matrix ⁶⁶ Show member pathways Collagen degradation ⁶⁶ Extracellular matrix organization ⁶⁶	12.39	COL1A1 COL1A2 COL2A1 COMP CRTAP P3H1
6	ECM-receptor interaction ³⁷ Show member pathways Integrin cell surface interactions ⁶⁶	11.88	COL1A1 COL1A2 COL2A1 COMP
7	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.7	COL1A1 COL1A2 PIK3R2
8	Amoebiasis ³⁷	11.67	COL1A1 COL1A2 PIK3R2
9	Central carbon metabolism in cancer ³⁷	11.45	FGFR2 FGFR3 PIK3R2
10	Cell adhesion_ECM remodeling ²²	11.39	COL1A1 COL1A2 COL2A1
11	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.14	COL1A1 COL1A2 RUNX2
12	Endochondral Ossification ¹	11.07	COL2A1 FGFR3 RUNX2 SOX9
13	Neural Crest Differentiation ¹	11.03	COL2A1 FGFR2 FGFR3 MSX2 SOX9
14	G-protein signaling_Rap2B regulation pathway ²²	10.7	COL1A1 COL1A2 COL2A1 FGFR2 FGFR3 PIK3R2

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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

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Sources for Bone Development Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁹ Cosmic

¹⁰ dbSNP

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²⁰ GeneAnalytics

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³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁵ R&D Systems

⁶⁶ Reactome

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⁶⁸ SNOMED-CT

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⁷¹ TGDB

⁷² Tocris

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia