Dysplasia Epiphysealis Hemimelica malady

NIH Rare Diseases: Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known.³⁰

MalaCards: Dysplasia Epiphysealis Hemimelica, also known as trevor disease, is related to osteochondroma and short stature. An important gene associated with Dysplasia Epiphysealis Hemimelica is EXT2 (exostosin 2), and among its related pathways are MPS IIIC - Sanfilippo syndrome C and Glycosaminoglycan biosynthesis - heparan sulfate. The compound heparan sulfate have been mentioned in the context of this disorder.

dysplasia epiphysealis hemimelica 30 trevor disease 30

dysplasia 43

Diseases related to dysplasia epiphysealis hemimelica by text searches and GeneDecks gene sharing:

(show top 50)    (show all 815)

id	Related Disease	Score	Top Affiliating Genes
1	osteochondroma	30.7	EXT2, EXT1
2	short stature	25.1	EXT1, EXT2
3	osteosarcoma	25.0	EXT2, EXT1
4	enchondromatosis	12.4	EXT1, EXT2
5	hereditary multiple exostoses	12.4	EXT2, EXT1
6	ollier disease	12.4	EXT2, EXT1
7	exostoses	12.3	EXT1, EXT2
8	exostosis	12.3	EXT1, EXT2
9	secondary syphilis	12.3	EXT2, EXT1
10	gigantism	12.2	EXT1, EXT2
11	chondrosarcoma	12.1	EXT1, EXT2
12	mayer-rokitansky-kuster-hauser syndrome	12.0	EXT1, EXT2
13	osteoporosis	11.8	EXT2, EXT1
14	ectodermal dysplasia	10.4
15	carcinoma	10.3
16	multiple epiphyseal dysplasia	9.7
17	hypohidrotic ectodermal dysplasia	9.6
18	bronchopulmonary dysplasia	9.6
19	cleidocranial dysplasia	9.4
20	spondyloepiphyseal dysplasia	9.2
21	epiphyseal dysplasia	9.1
22	thanatophoric dysplasia	9.1
23	squamous cell carcinoma	9.0
24	campomelic dysplasia	9.0
25	fibrous dysplasia	9.0
26	oculodentodigital dysplasia	8.8
27	diastrophic dysplasia	8.8
28	adenocarcinoma	8.7
29	arrhythmogenic right ventricular dysplasia	8.6
30	x-linked spondyloepiphyseal dysplasia tarda	8.5
31	kniest dysplasia	8.3
32	spondyloepimetaphyseal dysplasia, strudwick type	8.3
33	spondyloepiphyseal dysplasia tarda	8.3
34	dentin dysplasia	8.2
35	otospondylomegaepiphyseal dysplasia	8.2
36	carpotarsal osteochondromatosis	8.1
37	focal cortical dysplasia	8.1
38	craniometaphyseal dysplasia	8.1
39	pseudoachondroplasia	8.1
40	spondyloepiphyseal dysplasia congenita	8.0
41	barrett's esophagus	8.0
42	cervicitis	8.0
43	neuronitis	7.9
44	septooptic dysplasia	7.9
45	mandibuloacral dysplasia	7.7
46	schimke immunoosseous dysplasia	7.7
47	clouston syndrome	7.7
48	mccune albright syndrome	7.7
49	osseous dysplasia	7.6
50	ulcerative colitis	7.6

Approved drugs:

Drug clinical trials:

Articles related to dysplasia epiphysealis hemimelica:

id	Title	Authors	Year	Affiliating Genes
1	Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. (17490719)	Glick R.... Steiner G.C.	2007	EXT1, EXT2

Genes related to dysplasia epiphysealis hemimelica according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	EXT2	exostosin 2	11.0	Publications
2	EXT1	exostosin 1	11.0	Publications

Pathways related to dysplasia epiphysealis hemimelica according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	MPS IIIC - Sanfilippo syndrome C38	9.1	EXT1, EXT2
2	Glycosaminoglycan biosynthesis - heparan sulfate20	8.8	EXT1, EXT2

Compounds related to dysplasia epiphysealis hemimelica according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	heparan sulfate32 18	10.1	EXT1, EXT2

Cellular components related to dysplasia epiphysealis hemimelica according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	Golgi membrane	GO:000139	9.1	EXT1, EXT2
2	Golgi apparatus	GO:005794	9.1	EXT1, EXT2
3	endoplasmic reticulum	GO:005783	9.0	EXT1, EXT2
4	endoplasmic reticulum membrane	GO:005789	8.8	EXT1, EXT2

Biological processes related to dysplasia epiphysealis hemimelica according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	cellular polysaccharide biosynthetic process	GO:033692	9.3	EXT2, EXT1
2	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	GO:015014	9.3	EXT2, EXT1
3	heparan sulfate proteoglycan biosynthetic process	GO:015012	9.2	EXT2, EXT1
4	glycosaminoglycan biosynthetic process	GO:006024	9.2	EXT2, EXT1
5	ossification	GO:001503	9.1	EXT1, EXT2
6	carbohydrate metabolic process	GO:005975	9.1	EXT2, EXT1
7	protein glycosylation	GO:006486	9.0	EXT1, EXT2
8	glycosaminoglycan metabolic process	GO:030203	8.8	EXT1, EXT2

Molecular functions related to dysplasia epiphysealis hemimelica according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	GO:050509	9.3	EXT2, EXT1
2	heparan sulfate N-acetylglucosaminyltransferase activity	GO:042328	9.3	EXT2, EXT1
3	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	GO:050508	9.2	EXT2, EXT1
4	acetylglucosaminyltransferase activity	GO:008375	9.2	EXT1, EXT2
5	transferase activity, transferring glycosyl groups	GO:016757	9.1	EXT2, EXT1
6	protein homodimerization activity	GO:042803	9.1	EXT2, EXT1
7	glucuronosyltransferase activity	GO:015020	9.0	EXT2, EXT1
8	protein heterodimerization activity	GO:046982	8.8	EXT1, EXT2