Enchondromatosis malady

Wikipedia: Enchondromatosis is a form of osteochondrodysplasia characterized by a proliferation of enchondromas.⁴⁴ more...

MalaCards: Enchondromatosis is related to ollier disease and hereditary multiple exostoses. An important gene associated with Enchondromatosis is IHH (Indian hedgehog), and among its related pathways are MPS IIIC - Sanfilippo syndrome C and Glycosaminoglycan biosynthesis - heparan sulfate. The compounds parathyroid hormone (1-34) (human) and dbc-amp have been mentioned in the context of this disorder. Related mouse phenotypes are digestive/alimentary and limbs/digits/tail.

enchondromatosis 7

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

(show all 35)

id	Related Disease	Score	Top Affiliating Genes
1	ollier disease	31.3	PTH1R, PTHLH
2	hereditary multiple exostoses	27.6	EXT1, EXT2
3	exostoses	26.9	EXT2, EXT1, GTDC2
4	dysplasia epiphysealis hemimelica	12.7	EXT1, EXT2
5	pseudohypoparathyroidism type ib	12.6	PTH1R, PTHLH
6	enchondroma	12.6	PTHLH, PTH1R
7	humoral hypercalcemia of malignancy	12.6	PTHLH, PTH1R
8	metaphyseal dysplasia	12.5	PTHLH, PTH1R
9	osteochondrodysplasia	12.5	PTH1R, PTHLH
10	primary hyperparathyroidism	12.5	PTH1R, PTHLH
11	pseudohypoparathyroidism	12.5	PTH1R, PTHLH
12	chst3-related skeletal dysplasia	12.5	PTH1R, PTHLH
13	exostosis	12.4	IHH, EXT1, EXT2
14	hypophosphatemia	12.4	PTH1R, PTHLH
15	hypoparathyroidism	12.3	PTH1R, PTHLH
16	achondroplasia	12.3	IHH, PTH1R, PTHLH
17	osteomalacia	12.2	PTHLH, PTH1R
18	jansen's metaphyseal chondrodysplasia	12.2	PTHLH, PTH2R, PTH1R
19	metaphyseal chondrodysplasia	12.2	PTH1R, PTH2R, PTHLH
20	brachydactyly	12.2	IHH, PTHLH
21	chondrodysplasia	12.1	PTH1R, PTH2R, PTHLH
22	mayer-rokitansky-kuster-hauser syndrome	12.1	EXT1, EXT2, PTH1R
23	hyperparathyroidism	11.9	PTHLH, PTH2R, PTH1R
24	osteochondroma	11.9	EXT1, EXT2, PTHLH
25	osteoarthritis	11.6	PTHLH, PTH2R, IHH, GTDC2
26	secondary syphilis	11.5	EXT1, EXT2, PTH1R, PTHLH
27	short stature	11.5	PTHLH, EXT2, EXT1, IHH
28	osteoporosis	11.5	PTHLH, PTH1R, EXT2, EXT1
29	osteosarcoma	11.4	PTHLH, PTH1R, EXT2, EXT1
30	pancreatic cancer	11.3	GTDC2, IHH, PTH1R, PTHLH
31	myeloma	11.1	PTHLH, PTH1R, EXT1, IHH, GTDC2
32	chondrosarcoma	10.6	GTDC2, IHH, EXT1, EXT2, PTH1R, PTHLH
33	leukemia	10.4	PTHLH, PTH1R, EXT2, EXT1, IHH, GTDC2
34	colorectal cancer	10.3	PTHLH, EXT2, EXT1, IHH, GTDC2
35	enchondromatosis dwarfism deafness	6.6

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to enchondromatosis:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	digestive/alimentary phenotype	MP:0005381	8.2	IHH, EXT1, PTH1R, PTHLH
2	limbs/digits/tail phenotype	MP:0005371	8.1	PTHLH, PTH1R, EXT1, IHH
3	craniofacial phenotype	MP:0005382	7.9	PTHLH, PTH1R, EXT1, IHH
4	skeleton phenotype	MP:0005390	7.7	IHH, EXT1, EXT2, PTH1R, PTHLH

Articles related to enchondromatosis:

id	Title	Authors	Year	Affiliating Genes
1	Hereditary multiple exostoses and enchondromatosis. (18328980)	Pannier S.... Legeai-Mallet L.	2008	EXT1, EXT2, GTDC2
2	Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. (15523647)	Rozeman L.B.... Bovee J.V.M.G.	2004	PTH1R
3	A mutant PTH/PTHrP type I receptor in enchondromatosis. (11850620)	Hopyan S.... Alman B.A.	2002	PTH1R

Genes related to enchondromatosis according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	IHH	Indian hedgehog	11.0
2	PTH1R	parathyroid hormone 1 receptor	11.0	Publications
3	PTH2R	parathyroid hormone 2 receptor	11.0
4	EXT2	exostosin 2	11.0	Publications
5	EXT1	exostosin 1	11.0	Publications
6	PTHLH	parathyroid hormone-like hormone	11.0
7	GTDC2	glycosyltransferase-like domain containing 2	9.5	Publications

Pathways related to enchondromatosis according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	MPS IIIC - Sanfilippo syndrome C38	9.3	EXT1, EXT2
2	Glycosaminoglycan biosynthesis - heparan sulfate20	9.0	EXT1, EXT2
3	Development_Hedgehog and PTH signaling pathways in bone and cartilage development41	8.9	IHH, PTH1R, PTHLH
4	Class B/2 (Secretin family receptors)38	8.9	PTH1R, PTH2R, PTHLH
5	Development Hedgehog and PTH signaling pathways in bone and cartilage development10	8.8	PTHLH, PTH1R, IHH

Compounds related to enchondromatosis according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	parathyroid hormone (1-34) (human)42	9.6	PTH1R, PTH2R
2	dbc-amp32	9.2	PTH1R, PTHLH
3	phosphorus32	9.1	PTHLH, PTH1R
4	ccl432	8.9	PTH1R, PTHLH
5	heparan sulfate32 18	9.1	GTDC2, EXT1, EXT2, PTHLH

Biological processes related to enchondromatosis according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	bone resorption	GO:045453	9.8	PTH1R, IHH
2	embryonic skeletal joint development	GO:072498	9.7	IHH, EXT1
3	cell maturation	GO:048469	9.7	PTH1R, IHH
4	cellular polysaccharide biosynthetic process	GO:033692	9.6	EXT1, EXT2
5	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	GO:015014	9.6	EXT1, EXT2
6	heparan sulfate proteoglycan biosynthetic process	GO:015012	9.5	EXT1, EXT2
7	osteoblast development	GO:002076	9.4	PTH1R, PTHLH
8	glycosaminoglycan biosynthetic process	GO:006024	9.4	EXT1, EXT2
9	protein glycosylation	GO:006486	9.3	EXT1, EXT2
10	endoderm development	GO:007492	9.1	EXT1, PTHLH
11	adenylate cyclase-activating G-protein coupled receptor signaling pathway	GO:007189	9.1	PTH1R, PTHLH
12	ossification	GO:001503	9.0	EXT1, EXT2
13	skeletal system development	GO:001501	8.8	PTHLH, PTH1R, EXT1

Molecular functions related to enchondromatosis according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	parathyroid hormone receptor activity	GO:004991	9.6	PTH2R, PTH1R
2	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	GO:050509	9.4	EXT2, EXT1
3	heparan sulfate N-acetylglucosaminyltransferase activity	GO:042328	9.4	EXT2, EXT1
4	glucuronosyltransferase activity	GO:015020	9.3	EXT1, EXT2
5	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	GO:050508	9.2	EXT1, EXT2
6	acetylglucosaminyltransferase activity	GO:008375	9.0	EXT1, EXT2
7	transferase activity, transferring glycosyl groups	GO:016757	9.0	GTDC2, EXT1, EXT2