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

MCID: BNS002 MIFTS: 23	Bone Structure Disease Categories: Bone diseases
Genes Tissues Related diseases Pathways Expand all tables

Sources

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

Sources

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 Diseases of glycosylation. Affiliated tissues include bone, and related phenotypes are no effect and cellular

Sources

Related Diseases for Bone Structure Disease

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

(show all 27)

#	Related Disease	Score	Top Affiliating Genes
1	spondylolysis	32.4	GDF5 FTH1
2	spondylolisthesis	32.1	MMP3 GDF5 FTH1 BMP2
3	scoliosis	30.9	TBX6 SH3TC2 ROBO3 NF1 COL2A1 ADGRG6
4	bone deterioration disease	30.2	SOX9 RPL34 MMP3 MMP13 GDF5 FTH1
5	spondylosis	11.0
6	bone chondrosarcoma	10.6	MMP13 ACAN
7	osteochondritis dissecans	10.5	MMP3 MMP13 ACAN
8	achondrogenesis, type ia	10.5	COL2A1 ACAN
9	ischemic bone disease	10.5	COL2A1 BMP2 ACAN
10	tympanosclerosis	10.5	COL2A1 BMP2
11	synovial chondromatosis	10.5	SOX9 COL2A1 BMP2
12	brachydactyly, type a2	10.4	MMP3 GDF5 BMP2
13	coxa vara	10.4	MMP13 COL2A1
14	spinal stenosis	10.4	MMP3 COL2A1 ACAN
15	frozen shoulder	10.4	MMP3 GDF5
16	hydrarthrosis	10.4	MMP3 MMP13 ADAMTS5
17	degenerative disc disease	10.4	SOX9 GDF5 BMP2 ACAN
18	brachydactyly	10.4	GDF5 COL2A1 BMP2
19	cartilage disease	10.3	COL2A1 ACAN
20	bone development disease	10.3	SOX9 GDF5 COL2A1
21	bone disease	10.3	MMP13 GDF5 COL2A1 ACAN
22	simpson-golabi-behmel syndrome, type 1	10.2	COL2A1 ACAN
23	chondrosarcoma	10.2	SOX9 MMP3 MMP13 ADAMTS4
24	polyradiculopathy	10.1	BMP2 ACAN
25	bone inflammation disease	9.8	SOX9 MMP3 MMP13 COL2A1 ADAMTS5 ACAN
26	arthritis	9.7	MMP3 MMP13 COL2A1 ADAMTS5 ADAMTS4 ACAN
27	osteoarthritis	9.0	SOX9 MMP3 MMP13 GDF5 COL2A1 CILP

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

Sources

Symptoms & Phenotypes for Bone Structure Disease

GenomeRNAi Phenotypes related to Bone Structure Disease according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	9.92	ACAN ADAMTS3 ADAMTS4 ADAMTS5 ADGRG6 BMP2

MGI Mouse Phenotypes related to Bone Structure Disease:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.14	ADAMTS3 ADAMTS5 ADGRG6 BMP2 COL2A1 FTH1
2	cardiovascular system	MP:0005385	10.13	ADAMTS3 ADGRG6 BMP2 COL2A1 FTH1 MMP13
3	mortality/aging	MP:0010768	10	ADAMTS3 ADAMTS4 ADGRG6 BMP2 COL2A1 FTH1
4	embryo	MP:0005380	9.97	ADAMTS3 BMP2 COL2A1 NF1 PES1 ROBO3
5	limbs/digits/tail	MP:0005371	9.86	ADAMTS5 BMP2 COL2A1 GDF5 MMP13 NF1
6	hearing/vestibular/ear	MP:0005377	9.8	ADAMTS3 BMP2 COL2A1 NF1 ROBO3 SOX9
7	nervous system	MP:0003631	9.73	ADAMTS3 ADAMTS4 ADGRG6 BMP2 COL2A1 FTH1
8	skeleton	MP:0005390	9.44	ADAMTS3 ADAMTS4 ADAMTS5 ADGRG6 BMP2 COL2A1

Sources

Drugs & Therapeutics for Bone Structure Disease

Search Clinical Trials , NIH Clinical Center for Bone Structure Disease

Sources

Genetic Tests for Bone Structure Disease

Sources

Anatomical Context for Bone Structure Disease

MalaCards organs/tissues related to Bone Structure Disease:

⁴¹

Bone

Sources

Publications for Bone Structure Disease

Sources

Genes for Bone Structure Disease

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

(show all 26)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ACAN	Aggrecan	Protein Coding	18.74	DISEASES inferred ¹⁵
2	FTH1	Ferritin Heavy Chain 1	Protein Coding	17.43	DISEASES inferred ¹⁵
3	ROBO3	Roundabout Guidance Receptor 3	Protein Coding	17.35	DISEASES inferred ¹⁵
4	MMP13	Matrix Metallopeptidase 13	Protein Coding	17.08	DISEASES inferred ¹⁵
5	BMP2	Bone Morphogenetic Protein 2	Protein Coding	17.02	DISEASES inferred ¹⁵
6	ADAMTS3	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3	Protein Coding	17	DISEASES inferred ¹⁵
7	MMP3	Matrix Metallopeptidase 3	Protein Coding	16.94	DISEASES inferred ¹⁵
8	SOX9	SRY-Box Transcription Factor 9	Protein Coding	16.81	DISEASES inferred ¹⁵
9	LSS	Lanosterol Synthase	Protein Coding	16.76	DISEASES inferred ¹⁵
10	GDF5	Growth Differentiation Factor 5	Protein Coding	16.71	DISEASES inferred ¹⁵
11	SH3TC2	SH3 Domain And Tetratricopeptide Repeats 2	Protein Coding	16.7	DISEASES inferred ¹⁵
12	TBX6	T-Box Transcription Factor 6	Protein Coding	16.67	DISEASES inferred ¹⁵
13	NF1	Neurofibromin 1	Protein Coding	16.62	DISEASES inferred ¹⁵
14	ADGRG6	Adhesion G Protein-Coupled Receptor G6	Protein Coding	16.45	DISEASES inferred ¹⁵
15	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	16.38	DISEASES inferred ¹⁵
16	CILP	Cartilage Intermediate Layer Protein	Protein Coding	16.38	DISEASES inferred ¹⁵
17	RPL34	Ribosomal Protein L34	Protein Coding	8.45	DISEASES inferred ¹⁵
18	PES1	Pescadillo Ribosomal Biogenesis Factor 1	Protein Coding	7.33	DISEASES inferred ¹⁵
19	ADAMTS5	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 5	Protein Coding	7.21	DISEASES inferred ¹⁵
20	ADAMTS4	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4	Protein Coding	6.95	DISEASES inferred ¹⁵
21	LBX1-AS1	LBX1 Antisense RNA 1	RNA Gene	6.37	DISEASES inferred ¹⁵
22	IL1B	Interleukin 1 Beta	Protein Coding	6.32	DISEASES inferred ¹⁵
23	LBX1	Ladybird Homeobox 1	Protein Coding	6.24	DISEASES inferred ¹⁵
24	SELENON	Selenoprotein N	Protein Coding	6.09	DISEASES inferred ¹⁵
25	BMP7	Bone Morphogenetic Protein 7	Protein Coding	6.06	DISEASES inferred ¹⁵
26	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	6.02	DISEASES inferred ¹⁵

Sources

Variations for Bone Structure Disease

Sources

Expression for Bone Structure Disease

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

Sources

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 ⁶⁶ Show member pathways Collagen degradation ⁶⁶ Extracellular matrix organization ⁶⁶	12.26	MMP3 MMP13 GDF5 COL2A1 BMP2 ADAMTS5
2	Diseases of glycosylation ⁶⁶ Show member pathways Diseases associated with O-glycosylation of proteins ⁶⁶	11.72	ADAMTS5 ADAMTS4 ADAMTS3 ACAN
3	Spinal Cord Injury ¹	11.69	SOX9 COL2A1 ACAN
4	Neural Crest Differentiation ¹	11.59	TBX6 SOX9 COL2A1
5	Microglia Activation During Neuroinflammation: Overview ⁶⁵ Show member pathways Microglia Activation During Neuroinflammation: Microglia Activation ⁶⁵	11.56	MMP3 ADAMTS5 ADAMTS4 ACAN
6	O-glycosylation of TSR domain-containing proteins ⁶⁶ Show member pathways Defective B3GALTL causes Peters-plus syndrome (PpS) ⁶⁶	11.43	ADAMTS5 ADAMTS4 ADAMTS3
7	Cell adhesion_ECM remodeling ²²	11.28	MMP3 MMP13 COL2A1
8	Endochondral Ossification ¹	10.91	SOX9 MMP13 COL2A1 ADAMTS5 ADAMTS4 ACAN
9	Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway ¹	10.78	COL2A1 BMP2

Sources

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 space	GO:0005615	9.91	MMP3 MMP13 GDF5 COL2A1 CILP BMP2
2	extracellular region	GO:0005576	9.7	MMP3 MMP13 GDF5 FTH1 COL2A1 CILP
3	collagen-containing extracellular matrix	GO:0062023	9.55	COL2A1 CILP ADAMTS5 ADAMTS3 ACAN
4	extracellular matrix	GO:0031012	9.1	MMP3 MMP13 COL2A1 ADAMTS5 ADAMTS3 ACAN

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

(show all 29)

#	Name	GO ID	Score	Top Affiliating Genes
1	heart development	GO:0007507	9.88	SOX9 NF1 BMP2 ACAN
2	extracellular matrix organization	GO:0030198	9.86	SOX9 NF1 COL2A1 ACAN
3	central nervous system development	GO:0007417	9.81	SOX9 COL2A1 ACAN
4	ossification	GO:0001503	9.77	SOX9 COL2A1 BMP2
5	regulation of MAPK cascade	GO:0043408	9.69	NF1 GDF5 BMP2
6	skeletal system development	GO:0001501	9.65	SOX9 COL2A1 BMP2 ADAMTS4 ACAN
7	tissue homeostasis	GO:0001894	9.64	SOX9 COL2A1
8	positive regulation of chondrocyte differentiation	GO:0032332	9.64	SOX9 GDF5
9	cell fate specification	GO:0001708	9.63	TBX6 SOX9
10	collagen catabolic process	GO:0030574	9.63	MMP3 MMP13 ADAMTS3
11	negative regulation of chondrocyte differentiation	GO:0032331	9.62	SOX9 GDF5
12	endocardial cushion morphogenesis	GO:0003203	9.62	SOX9 BMP2
13	extracellular matrix disassembly	GO:0022617	9.62	MMP3 MMP13 ADAMTS5 ADAMTS4
14	chondrocyte development	GO:0002063	9.61	SOX9 ACAN
15	positive regulation of cartilage development	GO:0061036	9.61	SOX9 BMP2
16	cellular response to BMP stimulus	GO:0071773	9.61	SOX9 COL2A1 BMP2
17	notochord development	GO:0030903	9.59	SOX9 COL2A1
18	limb bud formation	GO:0060174	9.58	SOX9 COL2A1
19	cartilage condensation	GO:0001502	9.58	SOX9 COL2A1 ACAN
20	negative regulation of insulin-like growth factor receptor signaling pathway	GO:0043569	9.57	CILP BMP2
21	proteoglycan metabolic process	GO:0006029	9.55	COL2A1 BMP2
22	myelination in peripheral nervous system	GO:0022011	9.54	SH3TC2 NF1 ADGRG6
23	otic vesicle development	GO:0071599	9.52	SOX9 COL2A1
24	negative regulation of mesenchymal cell apoptotic process	GO:2001054	9.49	SOX9 GDF5
25	anterior head development	GO:0097065	9.48	SOX9 COL2A1
26	collagen fibril organization	GO:0030199	9.46	NF1 COL2A1 ADAMTS3 ACAN
27	chondrocyte differentiation	GO:0002062	9.13	SOX9 COL2A1 BMP2
28	cartilage development	GO:0051216	9.02	SOX9 MMP13 GDF5 COL2A1 BMP2
29	proteolysis	GO:0006508	10.01	MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3 ACAN

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	extracellular matrix structural constituent	GO:0005201	9.43	COL2A1 CILP ACAN
3	metallopeptidase activity	GO:0008237	9.35	MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3
4	metalloendopeptidase activity	GO:0004222	9.02	MMP3 MMP13 ADAMTS5 ADAMTS4 ADAMTS3

Sources

Sources for Bone Structure Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

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

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia