Exostosis malady

Wikipedia: An exostosis (plural: exostoses) is the formation of new bone on the surface of a bone. Exostoses can...⁴⁴ more...

MalaCards: Exostosis, also known as cartilaginous exostosis, is related to hereditary multiple exostoses and trichorhinophalangeal syndrome type 2. An important gene associated with Exostosis is EXTL1 (exostoses (multiple)-like 1), and among its related pathways are MPS IIIC - Sanfilippo syndrome C and Glycosaminoglycan biosynthesis - heparan sulfate. The compounds Uridine-Diphosphate-N-Acetylgalactosamine and Uridine-5'-Diphosphate have been mentioned in the context of this disorder. Related mouse phenotypes are limbs/digits/tail and skeleton.

Disease Ontology: A hyperostosis that involves formation of new bone on the surface of preexisting bone.⁶

Aliases & Descriptions:

exostosis 6 8 cartilaginous exostosis 43 swimmer's exostosis 6 exostosis of orbit 43 orbital exostosis 6

bony outgrowth 6 osteophyte 6 exostoses 43 bone spur 6

Diseases related to exostosis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 66)

id	Related Disease	Score	Top Affiliating Genes
1	hereditary multiple exostoses	32.1	EXT1, EXT2
2	trichorhinophalangeal syndrome type 2	29.3	CSMD3, TRPS1, EXT1
3	exostoses	28.0	GTDC2, EXT1, EXT2, EXTL1, EXTL2, EXTL3
4	osteochondroma	27.6	EXT2, EXT1, BMP2
5	enchondromatosis	27.5	EXT2, EXT1, IHH
6	trichorhinophalangeal syndrome	27.4	EXT1, TRPS1
7	osteoarthritis	27.1	TGFB1, ACAN, IHH, GTDC2, MMP13, MMP12
8	osteoporosis	25.1	TGFB1, EXT2, EXT1, MMP13, BGLAP, BMP2
9	short stature	24.3	CSMD3, ACAN, TRPS1, EXT2, EXT1, IHH
10	osteosarcoma	24.2	TGFB1, EXT2, EXT1, MMP13, BGLAP, BMP2
11	chondrosarcoma	23.6	TGFB1, ACAN, EXT2, EXT1, IHH, GTDC2
12	dysplasia epiphysealis hemimelica	13.3	EXT1, EXT2
13	trichorhinophalangeal syndrome type i	13.1	TRPS1, EXT1
14	semd	13.0	MMP13, ACAN
15	ollier disease	12.9	MMP12, IHH, EXT1, EXT2
16	degenerative disc disease	12.8	BMP2, ACAN
17	craniosynostosis	12.5	BMP2, IHH, EXT2
18	progressive osseous heteroplasia	12.5	BMP2, BGLAP
19	spinal stenosis	12.5	TGFB1, ACAN, IFIT1
20	cleidocranial dysplasia	12.5	MMP13, BGLAP, BMP2
21	camurati-engelmann disease	12.5	TGFB1, BGLAP
22	secondary syphilis	12.4	BMP2, BGLAP, EXT1, EXT2
23	brachydactyly	12.4	ACAN, TRPS1, IHH, BMP2
24	gastric cardia adenocarcinoma	12.3	TGFB1, MMP13, MMP12
25	moyamoya disease	12.3	MMP12, MMP13, TGFB1
26	arthropathy	12.2	BMP2, BGLAP, MMP13, ACAN
27	end stage renal failure	12.1	BGLAP, COL4A5, TGFB1
28	ossification of posterior longitudinal ligament of spine	12.0	BMP2, BGLAP, TGFB1
29	synovitis	11.8	TGFB1, ACAN, MMP13, BGLAP
30	periostitis	11.7	BMP2, BGLAP, MMP13, TGFB1
31	osteolysis	11.7	BMP2, BGLAP, MMP13, TGFB1
32	ankylosing spondylitis	11.6	TGFB1, ACAN, BGLAP, BMP2
33	spondylitis	11.5	TGFB1, ACAN, BGLAP, BMP2
34	endometriosis	11.0	TGFB1, IHH, MMP13, MMP12, BGLAP
35	myeloma	10.6	TGFB1, ABO, EXT1, IHH, GTDC2, BGLAP
36	fibrosis	10.4	TGFB1, ABO, COL4A5, MMP13, MMP12, BGLAP
37	pancreatic cancer	10.4	TGFB1, ABO, IHH, GTDC2, IRS4, MMP12
38	squamous cell carcinoma	10.0	TGFB1, ACAN, ABO, COL12A1, MMP13, MMP12
39	colorectal cancer	8.7	EXTL3, COL4A5, ABO, TGFB1, CSMD3, GALNT5
40	exostoses, multiple, type 1	7.0
41	exostoses, multiple, type 2	7.0
42	exostoses, multiple, type 3	7.0
43	spasticity multiple exostoses	7.0
44	dupuytren subungual exostosis	7.0
45	hereditary multiple osteochondromatosis, type i	6.6
46	hereditary multiple osteochondromatosis, type ii	6.6
47	langer-giedion syndrome	6.4
48	craniosynostosis exostoses nevus epibulbar dermoid	6.1
49	exostoses anetodermia brachydactyly type e	6.1
50	potocki-shaffer syndrome	6.1

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to exostosis:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail phenotype	MP:0005371	8.6	BMP2, MMP13, IHH, EXT1, COL12A1, ACAN
2	skeleton phenotype	MP:0005390	7.7	BMP2, ACAN, COL12A1, TRPS1, EXT2, EXT1

Articles related to exostosis:

(show all 11)

id	Title	Authors	Year	Affiliating Genes
1	The t(X;6) in subungual exostosis results in transcri ptional deregulation of the gene for insulin receptor substrate 4. (20340132)	Mertens F.... Debiec-Rychter M.	2011	IRS4
2	A novel mutation in the EXT1 gene identified in a Han Chinese kindred with hereditary multiple exostosis. (20578942)	Wen W.... Luo Y.	2010	EXT1
3	The molecular and cellular basis of exostosis formation in hereditary multiple exostoses. (18452536)	Trebicz-Geffen M.... Nevo Z.	2008	GTDC2
4	Rearrangement of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22). (16284948)	Storlazzi C.T.... Debiec-Rychter M.	2006	COL4A5, COL12A1
5	Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes. (16026543)	Hecht J.T.... Carson D.D.	2005	EXT1, EXT2, GTDC2
6	A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis. (15985493)	Lemos M.C.... Thakker R.V.	2005	EXT1, EXT2, BGLAP
7	The short-lived exostosis induced surgically versus the lasting genetic hereditary multiple exostoses. (12645631)	Trebicz-Geffen M.... Robinson D.	2003	EXT1
8	Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis. (12239711)	Hall C.R.... Hecht J.T.	2002	EXT1, EXT2, GTDC2
9	A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis. (11461073)	Xiao C.Y.... Zhang G.	2001	EXT1, EXT2
10	Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. (11169766)	Bernard M.A.... Hecht J.T.	2001	EXT2, EXT1
11	Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. (7726168)	Hecht J.T.... Wagner M.	1995	EXT2

Genes related to exostosis according to GeneCards:

(show all 22)

id	Symbol	Description	Score	GeneCards Section Context
1	EXTL1	exostoses (multiple)-like 1	11.0	Aliases & Descriptions
2	EXTL3	exostoses (multiple)-like 3	11.0	Aliases & Descriptions
3	IRS4	insulin receptor substrate 4	11.0	Publications
4	IFIT1	interferon-induced protein with tetratricopeptide repeats 1	11.0
5	UTP15	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	11.0	Disorders
6	EXTL2	exostoses (multiple)-like 2	11.0
7	EXT2	exostosin 2	11.0	Publications, Orthologs
8	IHH	Indian hedgehog	11.0
9	GALNT5	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	11.0
10	EXT1	exostosin 1	11.0	Publications
11	COL12A1	collagen, type XII, alpha 1	11.0	Publications
12	MMP12	matrix metallopeptidase 12 (macrophage elastase)	11.0
13	ACAN	aggrecan	11.0
14	ABO	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	11.0
15	MMP13	matrix metallopeptidase 13 (collagenase 3)	11.0
16	COL4A5	collagen, type IV, alpha 5	11.0	Publications
17	TRPS1	trichorhinophalangeal syndrome I	11.0
18	BMP2	bone morphogenetic protein 2	11.0
19	BGLAP	bone gamma-carboxyglutamate (gla) protein	11.0	Publications
20	TGFB1	transforming growth factor, beta 1	11.0
21	CSMD3	CUB and Sushi multiple domains 3	11.0
22	GTDC2	glycosyltransferase-like domain containing 2	10.0	Publications

Pathways related to exostosis according to GeneDecks:

(show all 12)

id	Pathway	Score	Top Affiliating Genes
1	MPS IIIC - Sanfilippo syndrome C38	9.7	EXT1, EXT2, ACAN
2	Glycosaminoglycan biosynthesis - heparan sulfate20	9.7	EXT1, EXT2, EXTL1, EXTL2, EXTL3
3	Development_Hedgehog and PTH signaling pathways in bone and cartilage development41	9.6	IHH, MMP13, BGLAP
4	Development Hedgehog and PTH signaling pathways in bone and cartilage development10	9.6	BGLAP, MMP13, IHH
5	Cell adhesion_ECM remodeling41	9.5	COL4A5, MMP13, MMP12
6	Cell adhesion ECM remodeling10	9.5	COL4A5, MMP13, MMP12
7	Metalloproteases in connective tissue degradation10	9.4	ACAN, COL4A5, MMP13, MMP12
8	UPA-UPAR Pathway36	9.3	COL12A1, COL4A5, MMP13, MMP12
9	Cell adhesion_Plasmin signaling41	9.3	TGFB1, COL4A5, MMP13
10	Cell adhesion Plasmin signaling10	9.3	TGFB1, COL4A5, MMP13
11	Metabolic pathways20	8.6	GALNT5, ABO, EXTL3, EXTL2, EXTL1, EXT2
12	ILK Signaling36	8.5	TGFB1, COL12A1, COL4A5, IRS4, BMP2

Compounds related to exostosis according to GeneDecks:

(show all 26)

id	Compound	Score	Top Affiliating Genes
1	Uridine-Diphosphate-N-Acetylgalactosamine9 9	11.2	ABO, EXTL2
2	Uridine-5'-Diphosphate9 9	11.2	ABO, EXTL2
3	tio232	9.8	BMP2, BGLAP
4	polyglycolic acid32	9.5	ACAN, BGLAP, BMP2
5	chitosan32	9.5	BMP2, BGLAP, ACAN
6	alizarin32	9.5	BGLAP, BMP2
7	alendronate32 9 9	11.5	BMP2, BGLAP, MMP13
8	chondroitin sulfate32 18	10.3	MMP13, GTDC2, ACAN
9	hydroxyapatite32	9.3	BMP2, BGLAP, MMP13
10	alizarin red s32	9.2	TGFB1, BGLAP, BMP2
11	hydroxyproline32 18	10.2	BGLAP, MMP13, TGFB1
12	agarose32	9.2	TGFB1, ACAN, ABO, MMP13
13	tgf beta132	9.0	BMP2, MMP13, ACAN, TGFB1
14	hyaluronic acid32 18	10.0	BMP2, MMP13, ACAN, TGFB1
15	tetracycline32 9 9	10.9	TGFB1, MMP13, BGLAP, BMP2
16	glycosaminoglycan32	8.8	TGFB1, ACAN, EXT1, MMP13, BMP2
17	matrigel32	8.7	BMP2, MMP12, MMP13, TGFB1
18	alginate32	8.6	BMP2, BGLAP, MMP13, ACAN, TGFB1
19	procollagen32	8.6	BMP2, BGLAP, MMP13, ACAN, TGFB1
20	sb 20358032 42	9.6	TGFB1, ACAN, MMP13, BGLAP, BMP2
21	heparan sulfate32 18	9.5	BMP2, ACAN, EXTL3, EXTL2, EXTL1, EXT2
22	arginine32	8.4	ABO, COL4A5, EXT2, EXT1, BGLAP, BMP2
23	pge232	8.4	TGFB1, ACAN, MMP13, BGLAP, BMP2
24	dexamethasone32 42 34 9 9	12.1	TGFB1, ACAN, MMP13, MMP12, BGLAP, BMP2
25	heparin32 9 18 9	11.1	EXT1, GTDC2, MMP13, BGLAP, BMP2
26	serine32	7.1	TGFB1, ABO, COL4A5, GTDC2, MMP13, MMP12

Cellular components related to exostosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	intrinsic to endoplasmic reticulum membrane	GO:031227	9.8	EXT2, EXTL1, EXTL2, EXTL3
2	membrane-bounded vesicle	GO:031988	9.4	BMP2, BGLAP
3	proteinaceous extracellular matrix	GO:005578	8.6	TGFB1, ACAN, MMP13, MMP12
4	extracellular space	GO:005615	8.0	BMP2, BGLAP, MMP13, IHH, COL12A1, TGFB1
5	extracellular region	GO:005576	6.3	TGFB1, ACAN, ABO, COL12A1, COL4A5, EXTL2

Biological processes related to exostosis according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	cellular polysaccharide biosynthetic process	GO:033692	10.2	EXT2, EXT1
2	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	GO:015014	10.1	EXT1, EXT2
3	embryonic skeletal joint development	GO:072498	10.1	EXT1, IHH
4	glycosaminoglycan biosynthetic process	GO:006024	9.9	EXT1, EXT2, GALNT5
5	heparan sulfate proteoglycan biosynthetic process	GO:015012	9.8	EXTL3, EXTL2, EXT2, EXT1
6	protein glycosylation	GO:006486	9.7	EXT1, EXT2, EXTL1, ABO
7	proteoglycan metabolic process	GO:006029	9.5	BMP2, IHH
8	positive regulation of odontogenesis	GO:042482	9.4	TGFB1, BMP2
9	pathway-restricted SMAD protein phosphorylation	GO:060389	9.4	BMP2, TGFB1
10	osteoblast differentiation	GO:001649	9.2	BMP2, BGLAP, IHH
11	skeletal system development	GO:001501	8.3	BMP2, BGLAP, EXT1, EXTL1, TRPS1, COL12A1

Molecular functions related to exostosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	GO:050509	10.0	EXT2, EXT1
2	acetylglucosaminyltransferase activity	GO:008375	10.0	EXT1, EXT2
3	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	GO:050508	9.9	EXT1, EXT2, EXTL1
4	heparan sulfate N-acetylglucosaminyltransferase activity	GO:042328	9.9	EXT2, EXT1
5	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	GO:001888	9.8	EXTL3, EXTL2
6	transferase activity, transferring glycosyl groups	GO:016757	9.5	GTDC2, EXT1, EXT2