MCID: DYS048
MIFTS: 36

Dysplasia Epiphysealis Hemimelica

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Dysplasia Epiphysealis Hemimelica

MalaCards integrated aliases for Dysplasia Epiphysealis Hemimelica:

Name: Dysplasia Epiphysealis Hemimelica 53 72 49 55 69
Trevor Disease 53 72 49 55

Characteristics:

Orphanet epidemiological data:

55
dysplasia epiphysealis hemimelica
Inheritance: Autosomal dominant;

OMIM:

53
Inheritance:
no familial case reported


Classifications:



External Ids:

OMIM 53 127800
Orphanet 55 ORPHA1822
MESH via Orphanet 42 C537997
UMLS via Orphanet 70 C0432282
ICD10 via Orphanet 33 Q74.8
UMLS 69 C0432282

Summaries for Dysplasia Epiphysealis Hemimelica

NIH Rare Diseases : 49 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 osteochondroma and dysplasia epiphysealis hemimelica with chondromas and osteochondromas, 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 : 72 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 via clinical synopsis from OMIM:

53
Skel:
asymmetrical cartilaginous overgrowth of epiphyses, esp
tarsal or carpal

Misc:
3:1 m:f ratio


Clinical features from OMIM:

127800

Human phenotypes related to Dysplasia Epiphysealis Hemimelica:

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 bone pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002653
3 osteoarthritis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002758
4 genu valgum 55 31 frequent (33%) Frequent (79-30%) HP:0002857
5 pes planus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001763
6 exostoses 55 31 hallmark (90%) Very frequent (99-80%) HP:0100777
7 genu varum 55 31 frequent (33%) Frequent (79-30%) HP:0002970
8 recurrent fractures 55 31 occasional (7.5%) Occasional (29-5%) HP:0002757
9 tarsal synostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008368
10 accelerated skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0005616
11 asymmetric growth 55 31 hallmark (90%) Very frequent (99-80%) HP:0100555
12 abnormality of the femoral neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0003367
13 flattened femoral head 55 31 occasional (7.5%) Occasional (29-5%) HP:0008812
14 irregular epiphyses 55 31 hallmark (90%) Very frequent (99-80%) HP:0010582
15 abnormality of epiphysis morphology 55 Very frequent (99-80%)
16 abnormality of the skeletal system 31 HP:0000924
17 abnormality of femur morphology 55 Occasional (29-5%)
18 overgrowth 31 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:

38
Bone

Publications for Dysplasia Epiphysealis Hemimelica

Articles related to Dysplasia Epiphysealis Hemimelica:

(show top 50) (show all 122)
# Title Authors Year
1
Arthroscopic Treatment of 2 Consecutive Cases of Dysplasia Epiphysealis Hemimelica of the Ankle: A 5-Year Follow-Up Report. ( 28638670 )
2017
2
Dysplasia epiphysealis hemimelica of the lower limb. ( 27743034 )
2017
3
Dysplasia epiphysealis hemimelica: a histological comparative study with osteochondromas. ( 28828057 )
2017
4
Dysplasia epiphysealis hemimelica (Trevor disease) in the ankle. ( 27103813 )
2016
5
Dysplasia Epiphysealis Hemimelica Treated with Osteochondral Allograft: A Case Report. ( 26361443 )
2015
6
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
7
Dysplasia epiphysealis hemimelica (trevor disease) of the ankle. ( 25866956 )
2015
8
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
9
Dysplasia epiphysealis hemimelica of the knee: an unusual presentation with intra-articular loose bodies and literature review. ( 25647567 )
2015
10
Dysplasia epiphysealis hemimelica of the ankle: a fracture-like rare developmental disorder. ( 26424820 )
2015
11
Dysplasia Epiphysealis Hemimelica with Involvement of the Distal Tibial Epiphysis and Talus: Recurrence of a Case and Literature Review. ( 24412001 )
2014
12
Valgus deformity caused by dysplasia epiphysealis hemimelica in the knee. ( 24625946 )
2014
13
Valgus deformity caused by dysplasia epiphysealis hemimelica in the knee. ( 25121391 )
2014
14
Diagnosis and surgical treatment of dysplasia epiphysealis hemimelica. A report of nine cases. ( 25453924 )
2014
15
Dysplasia epiphysealis hemimelica (trevor syndrome) of talus in a 21-year old woman; case report. ( 25207317 )
2014
16
Dysplasia epiphysealis hemimelica - diagnostics and treatment in pediatric patients. ( 24941028 )
2014
17
Dysplasia epiphysealis hemimelica: a case report. ( 25536815 )
2014
18
Dysplasia epiphysealis hemimelica: a diagnostic dilemma for orthopedic surgeons and a nightmare for parents. ( 24625930 )
2014
19
Imaging of dysplasia epiphysealis hemimelica (Trevor's disease). ( 23040212 )
2013
20
A rare case of Trevor's disease (dysplasia epiphysealis hemimelica) in the elbow. ( 23206405 )
2013
21
Dysplasia epiphysealis hemimelica of talus mimicking posterior ankle impingement syndrome in a young male: a case report with review of the literature. ( 23669004 )
2013
22
Treatment of dysplasia epiphysealis hemimelica: a systematic review of published reports and a report of seven patients. ( 22819617 )
2012
23
Bilateral dysplasia epiphysealis hemimelica of the talus associated with a lower leg intramuscular cartilaginous mass. ( 21965143 )
2012
24
Dysplasia epiphysealis hemimelica: a huge articular mass with unpredictable surgical results. ( 23175015 )
2012
25
Trevor's disease (dysplasia epiphysealis hemimelica) located at the hand: case report and review of the literature. ( 21236611 )
2011
26
Dysplasia epiphysealis hemimelica of the elbow. ( 20539242 )
2011
27
Treatment of proximal humeral dysplasia epiphysealis hemimelica with custom hemiarthroplasty: a case report. ( 22078324 )
2011
28
Dysplasia epiphysealis hemimelica of the ankle joint: a case report. ( 21857058 )
2011
29
Dysplasia epiphysealis hemimelica: a report of four cases. ( 21276564 )
2011
30
Answer to Case of the Month #160. Dysplasia epiphysealis hemimelica (Trevor's disease). ( 20117667 )
2010
31
Dysplasia epiphysealis hemimelica: radiographic and magnetic resonance imaging features and clinical outcome of complete and incomplete resection. ( 19813010 )
2010
32
Dysplasia epiphysealis hemimelica: a case report. ( 21809611 )
2010
33
Dysplasia epiphysealis hemimelica of the distal ulna: a case report and review of the literature. ( 19541588 )
2009
34
Dysplasia epiphysealis hemimelica: a case report with novel pathophysiologic aspects. ( 19526273 )
2009
35
Dysplasia epiphysealis hemimelica of the talus. ( 19384636 )
2009
36
Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement. ( 18810433 )
2008
37
Dysplasia epiphysealis hemimelica with involvement of the hip and spine in a young girl. ( 18591609 )
2008
38
Dysplasia epiphysealis hemimelica: two cases in two different regional expression. ( 17762680 )
2007
39
Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. ( 17490719 )
2007
40
Dysplasia epiphysealis hemimelica (Trevor's disease): 7 of our own cases and a review of the literature. ( 18236195 )
2007
41
Dysplasia epiphysealis hemimelica with associated osteochondral lesion of the talus: a case report and review of the literature. ( 17592704 )
2007
42
Trevor's disease: the clinical manifestations and treatment of dysplasia epiphysealis hemimelica. ( 17527110 )
2007
43
Dysplasia epiphysealis hemimelica of the tibial tubercle. ( 16284759 )
2006
44
Best cases from the AFIP: dysplasia epiphysealis hemimelica of the patella. ( 16549618 )
2006
45
EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis. ( 16622899 )
2006
46
Evaluation, imaging, histology and operative treatment for dysplasia epiphysealis hemimelica (Trevor disease) of the acetabulum: a case report and review. ( 16089075 )
2005
47
Dysplasia epiphysealis hemimelica of the ankle in children. ( 15757042 )
2005
48
Dysplasia epiphysealis hemimelica of the talus: two case reports. ( 15872407 )
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 carpus. ( 15766442 )
2005

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:

# 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:

# 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:

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

Sources for Dysplasia Epiphysealis Hemimelica

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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