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

MCID: BNS002 MIFTS: 26	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 RPL34 (Ribosomal Protein L34), and among its related pathways/superpathways are Degradation of the extracellular matrix and Diseases of glycosylation. Affiliated tissues include bone, eye and spinal cord, and related phenotypes are cellular and growth/size/body region

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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 94)

#	Related Disease	Score	Top Affiliating Genes
1	spondylolysis	32.4	RPL34 GDF5 FTH1 BMP2
2	spondylolisthesis	32.2	RPL34 MMP3 GDF5 FTH1 BMP2 ACAN
3	scoliosis	31.7	TBX6 SOX9 ROBO3 NF1 MMP3 MMP13
4	bone deterioration disease	31.5	SOX9 RPL34 MMP3 MMP13 GDF5 FTH1
5	spondylosis	11.0
6	central nervous system hemangioma	10.7	RPL34 NF1
7	sciatic neuropathy	10.7	RPL34 PES1
8	plica syndrome	10.7	PES1 MMP3
9	femoral neuropathy	10.7	RPL34 PES1
10	discitis	10.7	RPL34 FTH1 ACAN
11	mononeuritis of lower limb	10.7	RPL34 PES1
12	hydrarthrosis	10.7	MMP3 ADAMTS5
13	lesion of sciatic nerve	10.7	RPL34 PES1
14	scheuermann disease	10.7	RPL34 PES1 COL2A1
15	peroneal nerve paralysis	10.7	PES1 COL2A1
16	facial hemiatrophy	10.7	ADAMTS4 ADAMTS3
17	avascular necrosis	10.6	COL2A1 BMP2
18	enophthalmos	10.6	PES1 FBN1 ERCC6
19	osteochondrosis	10.6	PES1 COL2A1 ACAN
20	tooth ankylosis	10.6	GDF5 BMP2
21	tendinitis	10.6	PES1 MMP3 MMP13
22	synostoses, tarsal, carpal, and digital	10.6	PES1 GDF5
23	lumbosacral lipoma	10.6	RPL34 PES1
24	tricuspid valve prolapse	10.6	PES1 FBN1
25	enchondromatosis, multiple, ollier type	10.6	MMP13 COL2A1 ACAN
26	kohler's disease	10.6	PES1 COL2A1
27	arachnoiditis	10.6	RPL34 FTH1
28	retinal lattice degeneration	10.6	FBN1 COL2A1
29	polyradiculopathy	10.6	RPL34 FTH1 BMP2 ACAN
30	patent ductus arteriosus 1	10.6	PRODH PES1 FBN1
31	brachyolmia	10.6	SOX9 COL2A1 ACAN
32	pectus carinatum	10.6	FBN1 COL2A1
33	coxa vara	10.6	MMP13 COL2A1
34	cleidocranial dysplasia	10.6	SOX9 MMP13 ACAN
35	synovial chondromatosis	10.6	SOX9 COL2A1 BMP2
36	peripheral nervous system disease	10.6	RPL34 PRODH PES1 ERCC6
37	campomelic dysplasia	10.6	SOX9 COL2A1 ACAN
38	sorsby fundus dystrophy	10.6	MMP3 MMP13 FBN1
39	dyssegmental dysplasia, silverman-handmaker type	10.6	COL2A1 BMP2
40	exotropia	10.6	ROBO3 PES1 FBN1 ACAN
41	hypochondrogenesis	10.6	COL2A1 ACAN
42	tethered spinal cord syndrome	10.6	RPL34 PES1
43	orbital disease	10.6	PES1 NF1 FBN1 ERCC6
44	ischemic bone disease	10.6	PES1 COL2A1 BMP2 ACAN
45	achondroplasia	10.6	SOX9 COL2A1 ACAN
46	tracheal disease	10.6	SOX9 FBN1 COL2A1
47	aortic aneurysm, familial abdominal, 1	10.6	MMP3 MMP13 FBN1
48	spinal disease	10.6	TBX6 RPL34 FTH1 BMP2
49	osteochondritis dissecans	10.6	MMP3 MMP13 BMP2 ACAN
50	physical disorder	10.6	SOX9 PRODH PES1 ERCC6

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:

⁴⁵ (show all 11)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.27	ADAMTS3 ADAMTS5 BMP2 COL2A1 ERCC6 FBN1
2	growth/size/body region	MP:0005378	10.21	ADAMTS3 BMP2 COL2A1 ERCC6 FBN1 GDF5
3	homeostasis/metabolism	MP:0005376	10.18	ADAMTS3 BMP2 COL2A1 ERCC6 FBN1 FTH1
4	embryo	MP:0005380	10.16	ADAMTS3 BMP2 COL2A1 FBN1 GDF5 NF1
5	mortality/aging	MP:0010768	10.07	ADAMTS3 ADAMTS4 BMP2 COL2A1 ERCC6 FBN1
6	limbs/digits/tail	MP:0005371	10.06	ADAMTS5 BMP2 COL2A1 ERCC6 FBN1 GDF5
7	craniofacial	MP:0005382	10.02	ADAMTS3 BMP2 COL2A1 FBN1 NF1 PES1
8	nervous system	MP:0003631	9.97	ADAMTS3 ADAMTS4 BMP2 COL2A1 ERCC6 FBN1
9	hearing/vestibular/ear	MP:0005377	9.95	ADAMTS3 BMP2 COL2A1 ERCC6 NF1 ROBO3
10	renal/urinary system	MP:0005367	9.5	ADAMTS3 ADAMTS4 COL2A1 FBN1 NF1 SOX9
11	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, Eye, Spinal Cord, Heart

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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 50)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	RPL34	Ribosomal Protein L34	Protein Coding	9.09	DISEASES inferred ¹⁵
2	ACAN	Aggrecan	Protein Coding	8.98	DISEASES inferred ¹⁵
3	PES1	Pescadillo Ribosomal Biogenesis Factor 1	Protein Coding	8.55	DISEASES inferred ¹⁵
4	PRODH	Proline Dehydrogenase 1	Protein Coding	7.88	DISEASES inferred ¹⁵ ¹⁵
5	ADAMTS5	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 5	Protein Coding	7.74	DISEASES inferred ¹⁵
6	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	7.73	DISEASES inferred ¹⁵ ¹⁵
7	FTH1	Ferritin Heavy Chain 1	Protein Coding	7.71	DISEASES inferred ¹⁵
8	MIR27A	MicroRNA 27a	RNA Gene	7.68	DISEASES inferred ¹⁵ ¹⁵
9	ADAMTS4	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4	Protein Coding	7.68	DISEASES inferred ¹⁵
10	ADAMTS3	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3	Protein Coding	7.66	DISEASES inferred ¹⁵
11	MMP13	Matrix Metallopeptidase 13	Protein Coding	7.58	DISEASES inferred ¹⁵
12	ROBO3	Roundabout Guidance Receptor 3	Protein Coding	7.57	DISEASES inferred ¹⁵
13	NF1	Neurofibromin 1	Protein Coding	7.56	DISEASES inferred ¹⁵
14	BMP2	Bone Morphogenetic Protein 2	Protein Coding	7.55	DISEASES inferred ¹⁵
15	MMP3	Matrix Metallopeptidase 3	Protein Coding	7.51	DISEASES inferred ¹⁵
16	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	7.51	DISEASES inferred ¹⁵
17	FBN1	Fibrillin 1	Protein Coding	7.48	DISEASES inferred ¹⁵
18	GDF5	Growth Differentiation Factor 5	Protein Coding	7.4	DISEASES inferred ¹⁵
19	TBX6	T-Box Transcription Factor 6	Protein Coding	7.4	DISEASES inferred ¹⁵
20	SOX9	SRY-Box Transcription Factor 9	Protein Coding	7.37	DISEASES inferred ¹⁵
21	SELENON	Selenoprotein N	Protein Coding	7.16	DISEASES inferred ¹⁵
22	SH3TC2	SH3 Domain And Tetratricopeptide Repeats 2	Protein Coding	7.15	DISEASES inferred ¹⁵
23	HECTD4	HECT Domain E3 Ubiquitin Protein Ligase 4	Protein Coding	7.14	DISEASES inferred ¹⁵
24	FXN	Frataxin	Protein Coding	7.11	DISEASES inferred ¹⁵
25	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	7.1	DISEASES inferred ¹⁵
26	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	7.01	DISEASES inferred ¹⁵
27	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	7.01	DISEASES inferred ¹⁵
28	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	6.98	DISEASES inferred ¹⁵
29	RYR1	Ryanodine Receptor 1	Protein Coding	6.94	DISEASES inferred ¹⁵
30	CILP	Cartilage Intermediate Layer Protein	Protein Coding	6.93	DISEASES inferred ¹⁵
31	LSS	Lanosterol Synthase	Protein Coding	6.92	DISEASES inferred ¹⁵
32	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	6.88	DISEASES inferred ¹⁵
33	IL1B	Interleukin 1 Beta	Protein Coding	6.85	DISEASES inferred ¹⁵
34	MESP2	Mesoderm Posterior BHLH Transcription Factor 2	Protein Coding	6.85	DISEASES inferred ¹⁵
35	BMP7	Bone Morphogenetic Protein 7	Protein Coding	6.84	DISEASES inferred ¹⁵
36	HTRA1	HtrA Serine Peptidase 1	Protein Coding	6.76	DISEASES inferred ¹⁵
37	ADGRG6	Adhesion G Protein-Coupled Receptor G6	Protein Coding	6.73	DISEASES inferred ¹⁵
38	IL6	Interleukin 6	Protein Coding	6.73	DISEASES inferred ¹⁵
39	LBX1-AS1	LBX1 Antisense RNA 1	RNA Gene	6.7	DISEASES inferred ¹⁵
40	IGF1	Insulin Like Growth Factor 1	Protein Coding	6.67	DISEASES inferred ¹⁵
41	DMD	Dystrophin	Protein Coding	6.67	DISEASES inferred ¹⁵
42	LBX1	Ladybird Homeobox 1	Protein Coding	6.63	DISEASES inferred ¹⁵
43	PAX1	Paired Box 1	Protein Coding	6.57	DISEASES inferred ¹⁵
44	MTNR1B	Melatonin Receptor 1B	Protein Coding	6.57	DISEASES inferred ¹⁵
45	FBN2	Fibrillin 2	Protein Coding	6.56	DISEASES inferred ¹⁵
46	RIN2	Ras And Rab Interactor 2	Protein Coding	6.51	DISEASES inferred ¹⁵
47	HES7	Hes Family BHLH Transcription Factor 7	Protein Coding	6.51	DISEASES inferred ¹⁵
48	RUNX2	RUNX Family Transcription Factor 2	Protein Coding	6.5	DISEASES inferred ¹⁵
49	COL9A1	Collagen Type IX Alpha 1 Chain	Protein Coding	6.49	DISEASES inferred ¹⁵
50	MATN1	Matrilin 1	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:

#	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	Diseases of glycosylation ⁶⁵ Show member pathways Diseases associated with O-glycosylation of proteins ⁶⁵	11.72	ADAMTS5 ADAMTS4 ADAMTS3 ACAN
3	Neural Crest Differentiation ¹	11.66	TBX6 SOX9 COL2A1
4	TGF-beta signaling pathway (KEGG) ³⁶	11.58	GDF5 FBN1 BMP2
5	Microglia Activation During Neuroinflammation: Overview ⁶⁴ Show member pathways Microglia Activation During Neuroinflammation: Microglia Activation ⁶⁴	11.56	MMP3 ADAMTS5 ADAMTS4 ACAN
6	O-glycosylation of TSR domain-containing proteins ⁶⁵ Show member pathways Defective B3GALTL causes Peters-plus syndrome (PpS) ⁶⁵	11.46	ADAMTS5 ADAMTS4 ADAMTS3
7	Elastic fibre formation ⁶⁵ Show member pathways Molecules associated with elastic fibres ⁶⁵	11.41	GDF5 FBN1 BMP2
8	Cell adhesion_ECM remodeling ²²	11.28	MMP3 MMP13 COL2A1
9	Endochondral Ossification ¹	11.25	SOX9 MMP13 COL2A1 ADAMTS5 ADAMTS4 ACAN
10	G-protein signaling_Rap2B regulation pathway ²²	10.76	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	10	MMP3 MMP13 GDF5 FTH1 FBN1 COL2A1
2	extracellular space	GO:0005615	9.85	MMP3 MMP13 MIR27A GDF5 FBN1 COL2A1
3	basement membrane	GO:0005604	9.5	FBN1 COL2A1 ACAN
4	collagen-containing extracellular matrix	GO:0062023	9.43	FBN1 COL2A1 ADAMTS5 ADAMTS4 ADAMTS3 ACAN
5	extracellular matrix	GO:0031012	9.17	MMP3 MMP13 FBN1 COL2A1 ADAMTS5 ADAMTS3

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

(show all 23)

#	Name	GO ID	Score	Top Affiliating Genes
1	proteolysis	GO:0006508	9.99	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	cellular response to transforming growth factor beta stimulus	GO:0071560	9.73	SOX9 MIR27A FBN1
5	regulation of MAPK cascade	GO:0043408	9.72	NF1 GDF5 BMP2
6	collagen catabolic process	GO:0030574	9.65	MMP3 MMP13 ADAMTS3
7	chondrocyte differentiation	GO:0002062	9.63	SOX9 COL2A1 BMP2
8	extracellular matrix disassembly	GO:0022617	9.62	MMP3 MMP13 ADAMTS5 ADAMTS4
9	endocardial cushion morphogenesis	GO:0003203	9.61	SOX9 BMP2
10	positive regulation of cartilage development	GO:0061036	9.61	SOX9 BMP2
11	cellular response to BMP stimulus	GO:0071773	9.61	SOX9 COL2A1 BMP2
12	response to amyloid-beta	GO:1904645	9.6	MMP3 MMP13
13	limb bud formation	GO:0060174	9.58	SOX9 COL2A1
14	notochord development	GO:0030903	9.58	SOX9 COL2A1
15	proteoglycan metabolic process	GO:0006029	9.57	COL2A1 BMP2
16	collagen fibril organization	GO:0030199	9.56	NF1 COL2A1 ADAMTS3 ACAN
17	cartilage development	GO:0051216	9.55	SOX9 MMP13 GDF5 COL2A1 BMP2
18	otic vesicle development	GO:0071599	9.54	SOX9 COL2A1
19	cartilage condensation	GO:0001502	9.54	SOX9 COL2A1 ACAN
20	negative regulation of mesenchymal cell apoptotic process	GO:2001054	9.52	SOX9 GDF5
21	anterior head development	GO:0097065	9.49	SOX9 COL2A1
22	skeletal system development	GO:0001501	9.43	SOX9 FBN1 COL2A1 BMP2 ADAMTS4 ACAN
23	extracellular matrix organization	GO:0030198	9.17	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	protein binding	GO:0005515	10.19	TBX6 SOX9 RPL34 ROBO3 PES1 NF1
2	peptidase activity	GO:0008233	9.55	MMP3 MMP13 ADAMTS5 ADAMTS4 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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar