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

MCID: BNS002 MIFTS: 25	Bone Structure Disease Categories: Bone diseases
Genes Tissues Related diseases Pathways Expand all tables

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Aliases & Classifications for Bone Structure Disease

MalaCards integrated aliases for Bone Structure Disease:

Name: Bone Structure Disease ¹² ¹⁵

Classifications:

MalaCards categories:
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080010

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Summaries for Bone Structure Disease

Disease Ontology : ¹² A bone disease that has material basis in an abnormality in the location or function of the skeletal structure.

MalaCards based summary : Bone Structure Disease is related to spondylolysis and spondylolisthesis. An important gene associated with Bone Structure Disease is ACAN (Aggrecan), and among its related pathways/superpathways are Degradation of the extracellular matrix and Spinal Cord Injury. Affiliated tissues include bone, and related phenotypes are behavior/neurological and cellular

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Related Diseases for Bone Structure Disease

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

(show top 50) (show all 72)

#	Related Disease	Score	Top Affiliating Genes
1	spondylolysis	32.1	GDF5 BMP2 ACAN
2	spondylolisthesis	32.1	MMP3 GDF5 BMP2 ACAN
3	bone deterioration disease	31.5	SOX9 MMP3 MMP13 MIR486-1 GDF5 COL2A1
4	scoliosis	31.5	TBX6 SOX9 ROBO3 NF1 MMP3 MMP13
5	spondylosis	11.0
6	coronary artery aneurysm	10.5	MMP3 MMP13
7	exotropia	10.4	ROBO3 FBN1 ACAN
8	enchondromatosis, multiple, ollier type	10.4	MMP13 COL2A1 ACAN
9	coxa vara	10.4	MMP13 COL2A1
10	achondrogenesis, type ii	10.4	GDF5 COL2A1 ACAN
11	orbital disease	10.4	NF1 FBN1 ERCC6
12	klippel-feil syndrome	10.4	TBX6 ROBO3 GDF5
13	ischemic bone disease	10.4	COL2A1 BMP2 ACAN
14	hypochondrogenesis	10.4	COL2A1 ACAN
15	adult malignant schwannoma	10.4	SOX9 NF1
16	synovial chondromatosis	10.4	SOX9 COL2A1 BMP2
17	spinal stenosis	10.4	MMP3 MMP13 COL2A1 ACAN
18	tracheal disease	10.4	SOX9 FBN1 COL2A1
19	weill-marchesani syndrome	10.4	FBN1 ADAMTS5 ADAMTS4
20	spondyloepimetaphyseal dysplasia	10.4	SOX9 MMP13 COL2A1 ACAN
21	aneurysm	10.4	NF1 MMP13 FBN1
22	collagen disease	10.4	FBN1 COL2A1 ADAMTS4
23	cleidocranial dysplasia	10.4	SOX9 MMP13 ACAN
24	retinal lattice degeneration	10.4	FBN1 COL2A1
25	synovitis	10.4	MMP3 MMP13 COL2A1 ACAN
26	arthropathy	10.4	MMP3 MMP13 COL2A1 ACAN
27	spondyloepimetaphyseal dysplasia, missouri type	10.4	MMP13 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
28	campomelic dysplasia	10.4	SOX9 COL2A1 ACAN
29	achondroplasia	10.4	SOX9 COL2A1 ACAN
30	fibrochondrogenesis	10.4	SOX9 COL2A1 BMP2 ACAN
31	pectus carinatum	10.4	FBN1 COL2A1
32	brachydactyly, type a1, b	10.4	GDF5 BMP2
33	brachydactyly, type a2	10.4	LBX1 GDF5 BMP2
34	enophthalmos	10.4	NF1 GDF5 FBN1 ERCC6
35	dental caries	10.4	MMP3 MMP13 BMP2
36	dyssegmental dysplasia, silverman-handmaker type	10.4	COL2A1 BMP2
37	stickler syndrome	10.4	SOX9 FBN1 COL2A1 ACAN
38	physical disorder	10.4	SOX9 PRODH ERCC6
39	osteochondritis dissecans	10.3	SOX9 MMP3 MMP13 BMP2 ACAN
40	urinary system disease	10.3	PRODH MIR486-1 MIR27A ERCC6
41	aortic valve disease 2	10.3	MIR486-1 FBN1 BMP2
42	arthritis	10.3	MMP3 MMP13 COL2A1 ADAMTS5 ADAMTS4 ACAN
43	chromosome 2q35 duplication syndrome	10.3	SOX9 GDF5 FBN1 BMP2
44	chondrosarcoma	10.3	SOX9 MMP3 MMP13 BMP2 ADAMTS4
45	bone disease	10.3	MMP13 GDF5 COL2A1 BMP2 ACAN
46	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.3	PRODH NF1 MIR486-1 FBN1 ERCC6
47	aortic aneurysm, familial abdominal, 1	10.3	MMP3 MMP13 FBN1
48	x-linked monogenic disease	10.3	PRODH MIR27A ERCC6
49	orofacial cleft	10.3	SOX9 PRODH FBN1 COL2A1 BMP2
50	exostosis	10.3	MMP13 GDF5 COL2A1 BMP2 ADAMTS5 ACAN

Graphical network of the top 20 diseases related to Bone Structure Disease:

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Symptoms & Phenotypes for Bone Structure Disease

MGI Mouse Phenotypes related to Bone Structure Disease:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.26	ADAMTS3 ADAMTS4 ADAMTS5 COL2A1 ERCC6 FBN1
2	cellular	MP:0005384	10.25	ADAMTS3 ADAMTS5 BMP2 COL2A1 ERCC6 FBN1
3	growth/size/body region	MP:0005378	10.18	ADAMTS3 BMP2 COL2A1 ERCC6 FBN1 FXN
4	cardiovascular system	MP:0005385	10.16	ADAMTS3 BMP2 COL2A1 FBN1 FXN LBX1
5	embryo	MP:0005380	10.14	ADAMTS3 BMP2 COL2A1 FBN1 FXN GDF5
6	limbs/digits/tail	MP:0005371	10.03	ADAMTS5 BMP2 COL2A1 ERCC6 FBN1 GDF5
7	mortality/aging	MP:0010768	9.97	ADAMTS3 ADAMTS4 BMP2 COL2A1 ERCC6 FBN1
8	hearing/vestibular/ear	MP:0005377	9.87	ADAMTS3 BMP2 COL2A1 ERCC6 NF1 ROBO3
9	nervous system	MP:0003631	9.8	ADAMTS3 ADAMTS4 BMP2 COL2A1 ERCC6 FBN1
10	skeleton	MP:0005390	9.47	ADAMTS3 ADAMTS4 ADAMTS5 BMP2 COL2A1 ERCC6

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Drugs & Therapeutics for Bone Structure Disease

Search Clinical Trials , NIH Clinical Center for Bone Structure Disease

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Genetic Tests for Bone Structure Disease

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Anatomical Context for Bone Structure Disease

MalaCards organs/tissues related to Bone Structure Disease:

⁴⁰

Bone

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Publications for Bone Structure Disease

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Genes for Bone Structure Disease

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

(show all 49)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ACAN	Aggrecan	Protein Coding	9.03	DISEASES inferred ¹⁵
2	PRODH	Proline Dehydrogenase 1	Protein Coding	8.29	DISEASES inferred ¹⁵ ¹⁵
3	MIR27A	MicroRNA 27a	RNA Gene	7.98	DISEASES inferred ¹⁵ ¹⁵
4	ROBO3	Roundabout Guidance Receptor 3	Protein Coding	7.85	DISEASES inferred ¹⁵
5	ADAMTS5	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 5	Protein Coding	7.76	DISEASES inferred ¹⁵
6	MMP13	Matrix Metallopeptidase 13	Protein Coding	7.72	DISEASES inferred ¹⁵
7	ADAMTS4	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4	Protein Coding	7.7	DISEASES inferred ¹⁵
8	TBX6	T-Box Transcription Factor 6	Protein Coding	7.67	DISEASES inferred ¹⁵
9	ADAMTS3	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3	Protein Coding	7.65	DISEASES inferred ¹⁵
10	MMP3	Matrix Metallopeptidase 3	Protein Coding	7.64	DISEASES inferred ¹⁵
11	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	7.63	DISEASES inferred ¹⁵ ¹⁵
12	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	7.6	DISEASES inferred ¹⁵
13	NF1	Neurofibromin 1	Protein Coding	7.57	DISEASES inferred ¹⁵
14	FBN1	Fibrillin 1	Protein Coding	7.57	DISEASES inferred ¹⁵
15	BMP2	Bone Morphogenetic Protein 2	Protein Coding	7.55	DISEASES inferred ¹⁵
16	GDF5	Growth Differentiation Factor 5	Protein Coding	7.54	DISEASES inferred ¹⁵
17	LBX1	Ladybird Homeobox 1	Protein Coding	7.53	DISEASES inferred ¹⁵
18	MIR486-1	MicroRNA 486-1	RNA Gene	7.5	DISEASES inferred ¹⁵ ¹⁵
19	SOX9	SRY-Box Transcription Factor 9	Protein Coding	7.45	DISEASES inferred ¹⁵
20	FXN	Frataxin	Protein Coding	7.18	DISEASES inferred ¹⁵
21	IL1B	Interleukin 1 Beta	Protein Coding	7.17	DISEASES inferred ¹⁵
22	ADGRG6	Adhesion G Protein-Coupled Receptor G6	Protein Coding	7.15	DISEASES inferred ¹⁵
23	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	7.14	DISEASES inferred ¹⁵
24	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	7.14	DISEASES inferred ¹⁵
25	SELENON	Selenoprotein N	Protein Coding	7.1	DISEASES inferred ¹⁵
26	SH3TC2	SH3 Domain And Tetratricopeptide Repeats 2	Protein Coding	7.1	DISEASES inferred ¹⁵
27	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	7.08	DISEASES inferred ¹⁵
28	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	7.07	DISEASES inferred ¹⁵
29	MESP2	Mesoderm Posterior BHLH Transcription Factor 2	Protein Coding	7.01	DISEASES inferred ¹⁵
30	PAX1	Paired Box 1	Protein Coding	6.96	DISEASES inferred ¹⁵
31	RYR1	Ryanodine Receptor 1	Protein Coding	6.94	DISEASES inferred ¹⁵
32	CILP	Cartilage Intermediate Layer Protein	Protein Coding	6.94	DISEASES inferred ¹⁵
33	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	6.89	DISEASES inferred ¹⁵
34	IL6	Interleukin 6	Protein Coding	6.87	DISEASES inferred ¹⁵
35	TNF	Tumor Necrosis Factor	Protein Coding	6.86	DISEASES inferred ¹⁵
36	FBN2	Fibrillin 2	Protein Coding	6.8	DISEASES inferred ¹⁵
37	BMP7	Bone Morphogenetic Protein 7	Protein Coding	6.78	DISEASES inferred ¹⁵
38	DMD	Dystrophin	Protein Coding	6.73	DISEASES inferred ¹⁵
39	IGF1	Insulin Like Growth Factor 1	Protein Coding	6.73	DISEASES inferred ¹⁵
40	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	6.7	DISEASES inferred ¹⁵ ¹⁵
41	LBX1-AS1	LBX1 Antisense RNA 1	RNA Gene	6.7	DISEASES inferred ¹⁵
42	RIN2	Ras And Rab Interactor 2	Protein Coding	6.65	DISEASES inferred ¹⁵
43	GDF6	Growth Differentiation Factor 6	Protein Coding	6.65	DISEASES inferred ¹⁵
44	MTNR1B	Melatonin Receptor 1B	Protein Coding	6.63	DISEASES inferred ¹⁵
45	RUNX2	RUNX Family Transcription Factor 2	Protein Coding	6.62	DISEASES inferred ¹⁵
46	HES7	Hes Family BHLH Transcription Factor 7	Protein Coding	6.58	DISEASES inferred ¹⁵
47	MIR17	MicroRNA 17	RNA Gene	6.54	DISEASES inferred ¹⁵ ¹⁵
48	BGLAP	Bone Gamma-Carboxyglutamate Protein	Protein Coding	6.48	DISEASES inferred ¹⁵
49	BGN	Biglycan	Protein Coding	6.47	DISEASES inferred ¹⁵

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Variations for Bone Structure Disease

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Expression for Bone Structure Disease

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

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Pathways for Bone Structure Disease

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

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	11.98	MMP3 MMP13 GDF5 FBN1 COL2A1 BMP2
2	Spinal Cord Injury ¹	11.75	SOX9 COL2A1 ACAN
3	Diseases of glycosylation ⁶⁵ Show member pathways Diseases associated with O-glycosylation of proteins ⁶⁵	11.72	ADAMTS5 ADAMTS4 ADAMTS3 ACAN
4	Neural Crest Differentiation ¹	11.66	TBX6 SOX9 COL2A1
5	TGF-beta signaling pathway (KEGG) ³⁶	11.61	GDF5 FBN1 BMP2
6	Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	11.53	SOX9 GDF5 COL2A1 BMP2 ACAN
7	O-glycosylation of TSR domain-containing proteins ⁶⁵ Show member pathways Defective B3GALTL causes Peters-plus syndrome (PpS) ⁶⁵	11.46	ADAMTS5 ADAMTS4 ADAMTS3
8	Elastic fibre formation ⁶⁵ Show member pathways Molecules associated with elastic fibres ⁶⁵	11.41	GDF5 FBN1 BMP2
9	Cell adhesion_ECM remodeling ²³	11.28	MMP3 MMP13 COL2A1
10	Endochondral Ossification ¹	11.25	SOX9 MMP13 COL2A1 ADAMTS5 ADAMTS4 ACAN
11	G-protein signaling_Rap2B regulation pathway ²³	10.73	GDF5 FBN1 COL2A1 BMP2 ACAN

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GO Terms for Bone Structure Disease

Cellular components related to Bone Structure Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	9.96	MMP3 MMP13 GDF5 FBN1 COL2A1 BMP2
2	extracellular space	GO:0005615	9.7	MMP3 MMP13 MIR486-1 MIR27A GDF5 FBN1
3	collagen-containing extracellular matrix	GO:0062023	9.63	FBN1 COL2A1 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
4	basement membrane	GO:0005604	9.5	FBN1 COL2A1 ACAN
5	extracellular matrix	GO:0031012	9.23	MMP3 MMP13 FBN1 COL2A1 ADAMTS5 ADAMTS4

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

(show all 25)

#	Name	GO ID	Score	Top Affiliating Genes
1	proteolysis	GO:0006508	10	MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
2	heart development	GO:0007507	9.8	SOX9 NF1 FBN1 BMP2 ACAN
3	ossification	GO:0001503	9.77	SOX9 COL2A1 BMP2
4	central nervous system development	GO:0007417	9.76	TBX6 SOX9 COL2A1 ACAN
5	cellular response to transforming growth factor beta stimulus	GO:0071560	9.72	SOX9 MIR27A FBN1
6	chondrocyte differentiation	GO:0002062	9.69	SOX9 COL2A1 BMP2
7	collagen catabolic process	GO:0030574	9.67	MMP3 MMP13 ADAMTS3
8	chondrocyte development	GO:0002063	9.62	SOX9 ACAN
9	positive regulation of chondrocyte differentiation	GO:0032332	9.62	SOX9 GDF5
10	extracellular matrix disassembly	GO:0022617	9.62	MMP3 MMP13 ADAMTS5 ADAMTS4
11	endocardial cushion morphogenesis	GO:0003203	9.61	SOX9 BMP2
12	positive regulation of cartilage development	GO:0061036	9.61	SOX9 BMP2
13	cellular response to BMP stimulus	GO:0071773	9.61	SOX9 COL2A1 BMP2
14	response to amyloid-beta	GO:1904645	9.59	MMP3 MMP13
15	limb bud formation	GO:0060174	9.58	SOX9 COL2A1
16	notochord development	GO:0030903	9.58	SOX9 COL2A1
17	proteoglycan metabolic process	GO:0006029	9.57	COL2A1 BMP2
18	otic vesicle development	GO:0071599	9.56	SOX9 COL2A1
19	collagen fibril organization	GO:0030199	9.56	NF1 COL2A1 ADAMTS3 ACAN
20	cartilage development	GO:0051216	9.55	SOX9 MMP13 GDF5 COL2A1 BMP2
21	negative regulation of mesenchymal cell apoptotic process	GO:2001054	9.54	SOX9 GDF5
22	cartilage condensation	GO:0001502	9.54	SOX9 COL2A1 ACAN
23	anterior head development	GO:0097065	9.48	SOX9 COL2A1
24	skeletal system development	GO:0001501	9.43	SOX9 FBN1 COL2A1 BMP2 ADAMTS4 ACAN
25	extracellular matrix organization	GO:0030198	9.32	SOX9 NF1 MMP3 MMP13 FBN1 COL2A1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	peptidase activity	GO:0008233	9.55	MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3
2	endopeptidase activity	GO:0004175	9.43	MMP3 MMP13 ADAMTS3
3	metallopeptidase activity	GO:0008237	9.35	MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3
4	metalloendopeptidase activity	GO:0004222	9.02	MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3

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Sources for Bone Structure Disease

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⁴⁰ MalaCards

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

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