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 IVD (Isovaleryl-CoA Dehydrogenase), and among its related pathways/superpathways are Degradation of the extracellular matrix and Diseases of glycosylation. Affiliated tissues include bone, and related phenotypes are cellular and cardiovascular system

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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 all 29)

#	Related Disease	Score	Top Affiliating Genes
1	spondylolysis	31.7	FTH1 GDF5
2	spondylolisthesis	31.5	BMP2 FTH1 GDF5 IVD MMP3
3	scoliosis	31.1	ACAN COL2A1 NF1 ROBO3 SH3TC2 TBX6
4	bone deterioration disease	30.2	ACAN BMP2 CILP COL2A1 FTH1 GDF5
5	spondylosis	10.9
6	bone chondrosarcoma	10.4	ACAN MMP13
7	polyradiculopathy	10.4	ACAN BMP2 IVD
8	pseudoarthrosis	10.4	BMP2 NF1
9	osteochondritis dissecans	10.3	ACAN MMP13 MMP3
10	achondrogenesis, type ia	10.3	ACAN COL2A1
11	ischemic bone disease	10.3	ACAN BMP2 COL2A1
12	synovial chondromatosis	10.3	BMP2 COL2A1 SOX9
13	brachydactyly, type a2	10.3	BMP2 GDF5 MMP3
14	spinal stenosis	10.2	ACAN COL2A1 MMP3
15	tympanosclerosis	10.2	BMP2 COL2A1
16	hydrarthrosis	10.2	ADAMTS5 MMP13 MMP3
17	coxa vara	10.2	COL2A1 MMP13
18	brachydactyly	10.2	BMP2 COL2A1 GDF5
19	frozen shoulder	10.2	GDF5 MMP3
20	degenerative disc disease	10.2	ACAN BMP2 GDF5 SOX9
21	autosomal dominant disease	10.2	ACAN COL2A1 NF1
22	bone development disease	10.2	COL2A1 GDF5 SOX9
23	bone disease	10.1	ACAN COL2A1 GDF5 MMP13
24	cartilage disease	10.1	ACAN COL2A1
25	chondrosarcoma	10.1	ADAMTS4 MMP13 MMP3 SOX9
26	simpson-golabi-behmel syndrome, type 1	10.0	ACAN COL2A1
27	bone inflammation disease	9.9	ACAN ADAMTS5 COL2A1 MMP13 MMP3 SOX9
28	arthritis	9.8	ACAN ADAMTS4 ADAMTS5 COL2A1 MMP13 MMP3
29	osteoarthritis	9.3	ACAN ADAMTS4 ADAMTS5 CILP COL2A1 GDF5

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:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.07	ADAMTS3 ADAMTS5 BMP2 COL2A1 FTH1 MMP13
2	cardiovascular system	MP:0005385	10.06	ADAMTS3 BMP2 COL2A1 FTH1 MMP13 NF1
3	mortality/aging	MP:0010768	9.97	ADAMTS3 ADAMTS4 BMP2 COL2A1 FTH1 GDF5
4	limbs/digits/tail	MP:0005371	9.86	ADAMTS5 BMP2 COL2A1 GDF5 MMP13 NF1
5	hearing/vestibular/ear	MP:0005377	9.8	ADAMTS3 BMP2 COL2A1 NF1 ROBO3 SOX9
6	nervous system	MP:0003631	9.7	ADAMTS3 ADAMTS4 BMP2 COL2A1 FTH1 MMP3
7	skeleton	MP:0005390	9.4	ADAMTS3 ADAMTS4 ADAMTS5 BMP2 COL2A1 GDF5

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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:

⁴²

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 25)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	IVD	Isovaleryl-CoA Dehydrogenase	Protein Coding	19.22	DISEASES inferred ¹⁵
2	ACAN	Aggrecan	Protein Coding	18.69	DISEASES inferred ¹⁵
3	FTH1	Ferritin Heavy Chain 1	Protein Coding	17.4	DISEASES inferred ¹⁵
4	ROBO3	Roundabout Guidance Receptor 3	Protein Coding	17.35	DISEASES inferred ¹⁵
5	MMP13	Matrix Metallopeptidase 13	Protein Coding	17.04	DISEASES inferred ¹⁵
6	BMP2	Bone Morphogenetic Protein 2	Protein Coding	17.02	DISEASES inferred ¹⁵
7	MMP3	Matrix Metallopeptidase 3	Protein Coding	16.88	DISEASES inferred ¹⁵
8	ADAMTS3	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3	Protein Coding	16.87	DISEASES inferred ¹⁵
9	SOX9	SRY-Box 9	Protein Coding	16.77	DISEASES inferred ¹⁵
10	NF1	Neurofibromin 1	Protein Coding	16.76	DISEASES inferred ¹⁵
11	GDF5	Growth Differentiation Factor 5	Protein Coding	16.76	DISEASES inferred ¹⁵
12	LSS	Lanosterol Synthase	Protein Coding	16.75	DISEASES inferred ¹⁵
13	SH3TC2	SH3 Domain And Tetratricopeptide Repeats 2	Protein Coding	16.64	DISEASES inferred ¹⁵
14	TBX6	T-Box 6	Protein Coding	16.55	DISEASES inferred ¹⁵
15	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	16.34	DISEASES inferred ¹⁵
16	CILP	Cartilage Intermediate Layer Protein	Protein Coding	16.33	DISEASES inferred ¹⁵
17	RPL34	Ribosomal Protein L34	Protein Coding	8.42	DISEASES inferred ¹⁵
18	ADAMTS5	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 5	Protein Coding	7.24	DISEASES inferred ¹⁵
19	ADAMTS4	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4	Protein Coding	6.82	DISEASES inferred ¹⁵
20	LBX1-AS1	LBX1 Antisense RNA 1	RNA Gene	6.36	DISEASES inferred ¹⁵
21	IL1B	Interleukin 1 Beta	Protein Coding	6.25	DISEASES inferred ¹⁵
22	ADGRG6	Adhesion G Protein-Coupled Receptor G6	Protein Coding	6.23	DISEASES inferred ¹⁵
23	LBX1	Ladybird Homeobox 1	Protein Coding	6.17	DISEASES inferred ¹⁵
24	SELENON	Selenoprotein N	Protein Coding	6.16	DISEASES inferred ¹⁵
25	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	6.11	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 ⁶⁷ Show member pathways Collagen degradation ⁶⁷ Extracellular matrix organization ⁶⁷	12.26	ACAN ADAMTS3 ADAMTS4 ADAMTS5 BMP2 COL2A1
2	Diseases of glycosylation ⁶⁷ Show member pathways Diseases associated with O-glycosylation of proteins ⁶⁷	11.72	ACAN ADAMTS3 ADAMTS4 ADAMTS5
3	Spinal Cord Injury ¹	11.69	ACAN COL2A1 SOX9
4	Neural Crest Differentiation ¹	11.59	COL2A1 SOX9 TBX6
5	Microglia Activation During Neuroinflammation: Overview ⁶⁶ Show member pathways Microglia Activation During Neuroinflammation: Microglia Activation ⁶⁶	11.56	ACAN ADAMTS4 ADAMTS5 MMP3
6	O-glycosylation of TSR domain-containing proteins ⁶⁷ Show member pathways Defective B3GALTL causes Peters-plus syndrome (PpS) ⁶⁷	11.43	ADAMTS3 ADAMTS4 ADAMTS5
7	Cell adhesion_ECM remodeling ²³	11.28	COL2A1 MMP13 MMP3
8	Endochondral Ossification ¹	10.91	ACAN ADAMTS4 ADAMTS5 COL2A1 MMP13 SOX9
9	Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway ¹	10.78	BMP2 COL2A1

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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 space	GO:0005615	9.91	ADAMTS3 ADAMTS4 ADAMTS5 BMP2 CILP COL2A1
2	extracellular region	GO:0005576	9.7	ACAN ADAMTS3 ADAMTS4 ADAMTS5 BMP2 CILP
3	collagen-containing extracellular matrix	GO:0062023	9.55	ACAN ADAMTS3 ADAMTS5 CILP COL2A1
4	extracellular matrix	GO:0031012	9.1	ACAN ADAMTS3 ADAMTS5 COL2A1 MMP13 MMP3

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	9.87	ACAN BMP2 NF1 SOX9
2	extracellular matrix organization	GO:0030198	9.85	ACAN COL2A1 NF1 SOX9
3	central nervous system development	GO:0007417	9.81	ACAN COL2A1 SOX9
4	ossification	GO:0001503	9.77	BMP2 COL2A1 SOX9
5	regulation of MAPK cascade	GO:0043408	9.69	BMP2 GDF5 NF1
6	skeletal system development	GO:0001501	9.65	ACAN ADAMTS4 BMP2 COL2A1 SOX9
7	positive regulation of chondrocyte differentiation	GO:0032332	9.64	GDF5 SOX9
8	tissue homeostasis	GO:0001894	9.64	COL2A1 SOX9
9	cell fate specification	GO:0001708	9.63	SOX9 TBX6
10	myelination in peripheral nervous system	GO:0022011	9.62	NF1 SH3TC2
11	negative regulation of chondrocyte differentiation	GO:0032331	9.62	GDF5 SOX9
12	extracellular matrix disassembly	GO:0022617	9.62	ADAMTS4 ADAMTS5 MMP13 MMP3
13	chondrocyte development	GO:0002063	9.61	ACAN SOX9
14	endocardial cushion morphogenesis	GO:0003203	9.61	BMP2 SOX9
15	cellular response to BMP stimulus	GO:0071773	9.61	BMP2 COL2A1 SOX9
16	positive regulation of cartilage development	GO:0061036	9.6	BMP2 SOX9
17	limb bud formation	GO:0060174	9.58	COL2A1 SOX9
18	notochord development	GO:0030903	9.58	COL2A1 SOX9
19	collagen catabolic process	GO:0030574	9.58	ADAMTS3 MMP13 MMP3
20	negative regulation of insulin-like growth factor receptor signaling pathway	GO:0043569	9.56	BMP2 CILP
21	proteoglycan metabolic process	GO:0006029	9.54	BMP2 COL2A1
22	cartilage condensation	GO:0001502	9.54	ACAN COL2A1 SOX9
23	otic vesicle development	GO:0071599	9.49	COL2A1 SOX9
24	negative regulation of mesenchymal cell apoptotic process	GO:2001054	9.48	GDF5 SOX9
25	anterior head development	GO:0097065	9.46	COL2A1 SOX9
26	collagen fibril organization	GO:0030199	9.46	ACAN ADAMTS3 COL2A1 NF1
27	chondrocyte differentiation	GO:0002062	9.26	BMP2 COL2A1 GDF5 SOX9
28	cartilage development	GO:0051216	9.02	BMP2 COL2A1 GDF5 MMP13 SOX9
29	proteolysis	GO:0006508	10	ACAN ADAMTS3 ADAMTS4 ADAMTS5 MMP13 MMP3

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

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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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia