MCID: DYS048
MIFTS: 32

Dysplasia Epiphysealis Hemimelica malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Dysplasia Epiphysealis Hemimelica

Aliases & Descriptions for Dysplasia Epiphysealis Hemimelica:

Name: Dysplasia Epiphysealis Hemimelica 54 50 56 69
Trevor Disease 50 56

Characteristics:

Orphanet epidemiological data:

56
dysplasia epiphysealis hemimelica
Inheritance: Autosomal dominant;

Classifications:



External Ids:

OMIM 54 127800
Orphanet 56 ORPHA1822
ICD10 via Orphanet 34 Q74.8
MESH via Orphanet 43 C537997
UMLS via Orphanet 70 C0432282

Summaries for Dysplasia Epiphysealis Hemimelica

NIH Rare Diseases : 50 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. last updated: 5/10/2011

MalaCards based summary : Dysplasia Epiphysealis Hemimelica, also known as trevor disease, is related to dysplasia epiphysealis hemimelica with chondromas and osteochondromas and carpotarsal osteochondromatosis, and has symptoms including joint stiffness, bone pain and osteoarthritis. An important gene associated with Dysplasia Epiphysealis Hemimelica is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Mesodermal Commitment Pathway. Affiliated tissues include bone.

Wikipedia : 71 Trevor disease, also known as Fairbank\'s disease and Trevor\'s disease, is a congenital bone... more...

Description from OMIM: 127800

Related Diseases for Dysplasia Epiphysealis Hemimelica

Graphical network of the top 20 diseases related to Dysplasia Epiphysealis Hemimelica:



Diseases related to Dysplasia Epiphysealis Hemimelica

Symptoms & Phenotypes for Dysplasia Epiphysealis Hemimelica

Symptoms by clinical synopsis from OMIM:

127800

Clinical features from OMIM:

127800

Human phenotypes related to Dysplasia Epiphysealis Hemimelica:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 56 32 Very frequent (99-80%) HP:0001387
2 bone pain 56 32 Very frequent (99-80%) HP:0002653
3 osteoarthritis 56 32 Very frequent (99-80%) HP:0002758
4 genu valgum 56 32 Frequent (79-30%) HP:0002857
5 pes planus 56 32 Very frequent (99-80%) HP:0001763
6 exostoses 56 32 Very frequent (99-80%) HP:0100777
7 genu varum 56 32 Frequent (79-30%) HP:0002970
8 recurrent fractures 56 32 Occasional (29-5%) HP:0002757
9 tarsal synostosis 56 32 Very frequent (99-80%) HP:0008368
10 accelerated skeletal maturation 56 32 Very frequent (99-80%) HP:0005616
11 asymmetric growth 56 32 Very frequent (99-80%) HP:0100555
12 abnormality of the femoral neck 56 32 Occasional (29-5%) HP:0003367
13 flattened femoral head 56 32 Occasional (29-5%) HP:0008812
14 irregular epiphyses 56 32 Very frequent (99-80%) HP:0010582
15 abnormality of epiphysis morphology 56 Very frequent (99-80%)
16 abnormality of the femur 56 Occasional (29-5%)
17 overgrowth 32 HP:0001548

Drugs & Therapeutics for Dysplasia Epiphysealis Hemimelica

Search Clinical Trials , NIH Clinical Center for Dysplasia Epiphysealis Hemimelica

Genetic Tests for Dysplasia Epiphysealis Hemimelica

Anatomical Context for Dysplasia Epiphysealis Hemimelica

MalaCards organs/tissues related to Dysplasia Epiphysealis Hemimelica:

39
Bone

Publications for Dysplasia Epiphysealis Hemimelica

Articles related to Dysplasia Epiphysealis Hemimelica:

(show top 50) (show all 120)
id Title Authors Year
1
Dysplasia epiphysealis hemimelica of the lower limb. ( 27743034 )
2017
2
Dysplasia epiphysealis hemimelica (Trevor disease) in the ankle. ( 27103813 )
2016
3
Dysplasia epiphysealis hemimelica of the ankle: a fracture-like rare developmental disorder. ( 26424820 )
2015
4
Dysplasia epiphysealis hemimelica of the knee: an unusual presentation with intra-articular loose bodies and literature review. ( 25647567 )
2015
5
Dysplasia Epiphysealis Hemimelica Treated with Osteochondral Allograft: A Case Report. ( 26361443 )
2015
6
Comment on the article 'Dysplasia epiphysealis hemimelica of the knee: an unusual presentation with intra-articular loose bodies and literature review' by Wheeldon and Altiok. ( 26035353 )
2015
7
Response to Comment on the article 'Dysplasia epiphysealis hemimelica of the knee: an unusual presentation with intra-articular loose bodies and literature review' by Wheeldon and Altiok. J Pediatr Orthop B 2015:377-378. ( 26218901 )
2015
8
Dysplasia epiphysealis hemimelica (trevor disease) of the ankle. ( 25866956 )
2015
9
Dysplasia epiphysealis hemimelica: a case report. ( 25536815 )
2014
10
Diagnosis and surgical treatment of dysplasia epiphysealis hemimelica. A report of nine cases. ( 25453924 )
2014
11
Dysplasia epiphysealis hemimelica: a diagnostic dilemma for orthopedic surgeons and a nightmare for parents. ( 24625930 )
2014
12
Valgus deformity caused by dysplasia epiphysealis hemimelica in the knee. ( 25121391 )
2014
13
Dysplasia epiphysealis hemimelica - diagnostics and treatment in pediatric patients. ( 24941028 )
2014
14
Dysplasia epiphysealis hemimelica (trevor syndrome) of talus in a 21-year old woman; case report. ( 25207317 )
2014
15
Dysplasia Epiphysealis Hemimelica with Involvement of the Distal Tibial Epiphysis and Talus: Recurrence of a Case and Literature Review. ( 24412001 )
2014
16
Valgus deformity caused by dysplasia epiphysealis hemimelica in the knee. ( 24625946 )
2014
17
A rare case of Trevor's disease (dysplasia epiphysealis hemimelica) in the elbow. ( 23206405 )
2013
18
Imaging of dysplasia epiphysealis hemimelica (Trevor's disease). ( 23040212 )
2013
19
Dysplasia epiphysealis hemimelica of talus mimicking posterior ankle impingement syndrome in a young male: a case report with review of the literature. ( 23669004 )
2013
20
Dysplasia epiphysealis hemimelica: a huge articular mass with unpredictable surgical results. ( 23175015 )
2012
21
Bilateral dysplasia epiphysealis hemimelica of the talus associated with a lower leg intramuscular cartilaginous mass. ( 21965143 )
2012
22
Treatment of dysplasia epiphysealis hemimelica: a systematic review of published reports and a report of seven patients. ( 22819617 )
2012
23
Dysplasia epiphysealis hemimelica of the elbow. ( 20539242 )
2011
24
Dysplasia epiphysealis hemimelica of the ankle joint: a case report. ( 21857058 )
2011
25
Dysplasia epiphysealis hemimelica: a report of four cases. ( 21276564 )
2011
26
Treatment of proximal humeral dysplasia epiphysealis hemimelica with custom hemiarthroplasty: a case report. ( 22078324 )
2011
27
Trevor's disease (dysplasia epiphysealis hemimelica) located at the hand: case report and review of the literature. ( 21236611 )
2011
28
Answer to Case of the Month #160. Dysplasia epiphysealis hemimelica (Trevor's disease). ( 20117667 )
2010
29
Dysplasia epiphysealis hemimelica: a case report. ( 21809611 )
2010
30
Dysplasia epiphysealis hemimelica: radiographic and magnetic resonance imaging features and clinical outcome of complete and incomplete resection. ( 19813010 )
2010
31
Dysplasia epiphysealis hemimelica: a case report with novel pathophysiologic aspects. ( 19526273 )
2009
32
Dysplasia epiphysealis hemimelica of the talus. ( 19384636 )
2009
33
Dysplasia epiphysealis hemimelica of the distal ulna: a case report and review of the literature. ( 19541588 )
2009
34
Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement. ( 18810433 )
2008
35
Dysplasia epiphysealis hemimelica with involvement of the hip and spine in a young girl. ( 18591609 )
2008
36
Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. ( 17490719 )
2007
37
Dysplasia epiphysealis hemimelica: two cases in two different regional expression. ( 17762680 )
2007
38
Dysplasia epiphysealis hemimelica (Trevor's disease): 7 of our own cases and a review of the literature. ( 18236195 )
2007
39
Trevor's disease: the clinical manifestations and treatment of dysplasia epiphysealis hemimelica. ( 17527110 )
2007
40
Dysplasia epiphysealis hemimelica with associated osteochondral lesion of the talus: a case report and review of the literature. ( 17592704 )
2007
41
EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis. ( 16622899 )
2006
42
Dysplasia epiphysealis hemimelica of the tibial tubercle. ( 16284759 )
2006
43
Best cases from the AFIP: dysplasia epiphysealis hemimelica of the patella. ( 16549618 )
2006
44
Dysplasia epiphysealis hemimelica of the carpus. ( 15766442 )
2005
45
Evaluation, imaging, histology and operative treatment for dysplasia epiphysealis hemimelica (Trevor disease) of the acetabulum: a case report and review. ( 16089075 )
2005
46
Dysplasia epiphysealis hemimelica of the talus: two case reports. ( 15872407 )
2005
47
Dysplasia epiphysealis hemimelica of the ankle in children. ( 15757042 )
2005
48
Dysplasia epiphysealis hemimelica (Trevor's disease) of the acetabulum. ( 15843949 )
2005
49
Dysplasia epiphysealis hemimelica in a young girl: role of MRI in the diagnosis and follow-up. ( 15797503 )
2005
50
Dysplasia epiphysealis hemimelica of the hand: two cases at the proximal interphalangeal joint. ( 15552559 )
2004

Variations for Dysplasia Epiphysealis Hemimelica

Expression for Dysplasia Epiphysealis Hemimelica

Search GEO for disease gene expression data for Dysplasia Epiphysealis Hemimelica.

Pathways for Dysplasia Epiphysealis Hemimelica

GO Terms for Dysplasia Epiphysealis Hemimelica

Cellular components related to Dysplasia Epiphysealis Hemimelica according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 8.62 EXT1 EXT2

Biological processes related to Dysplasia Epiphysealis Hemimelica according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.37 EXT1 EXT2
2 ossification GO:0001503 9.32 EXT1 EXT2
3 glycosaminoglycan biosynthetic process GO:0006024 9.26 EXT1 EXT2
4 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.16 EXT1 EXT2
5 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 8.96 EXT1 EXT2
6 cellular polysaccharide biosynthetic process GO:0033692 8.62 EXT1 EXT2

Molecular functions related to Dysplasia Epiphysealis Hemimelica according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.43 EXT1 EXT2
2 protein heterodimerization activity GO:0046982 9.4 EXT1 EXT2
3 transferase activity, transferring glycosyl groups GO:0016757 9.37 EXT1 EXT2
4 glucuronosyltransferase activity GO:0015020 9.32 EXT1 EXT2
5 acetylglucosaminyltransferase activity GO:0008375 9.26 EXT1 EXT2
6 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.16 EXT1 EXT2
7 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 8.96 EXT1 EXT2
8 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 8.62 EXT1 EXT2

Sources for Dysplasia Epiphysealis Hemimelica

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....