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 57 76 53 59 73
Trevor Disease 57 76 53 59

Characteristics:

Orphanet epidemiological data:

59
dysplasia epiphysealis hemimelica
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
no familial case reported


Classifications:



External Ids:

OMIM 57 127800
Orphanet 59 ORPHA1822
ICD10 via Orphanet 34 Q74.8
MESH via Orphanet 45 C537997
UMLS via Orphanet 74 C0432282
MedGen 42 C0432282
UMLS 73 C0432282

Summaries for Dysplasia Epiphysealis Hemimelica

NIH Rare Diseases : 53 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.

MalaCards based summary : Dysplasia Epiphysealis Hemimelica, also known as trevor disease, is related to osteochondroma and dysplasia epiphysealis hemimelica with chondromas and osteochondromas. 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, and related phenotypes are joint stiffness and pes planus

Wikipedia : 76 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:

57
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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
2 pes planus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001763
3 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
4 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
5 osteoarthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002758
6 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
7 genu varum 59 32 frequent (33%) Frequent (79-30%) HP:0002970
8 abnormality of the femoral neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0003367
9 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
10 tarsal synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008368
11 flattened femoral head 59 32 occasional (7.5%) Occasional (29-5%) HP:0008812
12 irregular epiphyses 59 32 hallmark (90%) Very frequent (99-80%) HP:0010582
13 asymmetric growth 59 32 hallmark (90%) Very frequent (99-80%) HP:0100555
14 exostoses 59 32 hallmark (90%) Very frequent (99-80%) HP:0100777
15 abnormality of femur morphology 59 Occasional (29-5%)
16 abnormality of epiphysis morphology 59 Very frequent (99-80%)
17 abnormality of the skeletal system 32 HP:0000924
18 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:

41
Bone

Publications for Dysplasia Epiphysealis Hemimelica

Articles related to Dysplasia Epiphysealis Hemimelica:

(show top 50) (show all 121)
# Title Authors Year
1
Dysplasia epiphysealis hemimelica: a histological comparative study with osteochondromas. ( 28828057 )
2017
2
Dysplasia epiphysealis hemimelica of the lower limb. ( 27743034 )
2017
3
Arthroscopic Treatment of 2 Consecutive Cases of Dysplasia Epiphysealis Hemimelica of the Ankle: A 5-Year Follow-Up Report. ( 28638670 )
2017
4
Dysplasia epiphysealis hemimelica (Trevor disease) in the ankle. ( 27103813 )
2016
5
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
6
Dysplasia Epiphysealis Hemimelica Treated with Osteochondral Allograft: A Case Report. ( 26361443 )
2015
7
Dysplasia epiphysealis hemimelica (trevor disease) of the ankle. ( 25866956 )
2015
8
Dysplasia epiphysealis hemimelica of the knee: an unusual presentation with intra-articular loose bodies and literature review. ( 25647567 )
2015
9
Dysplasia epiphysealis hemimelica of the ankle: a fracture-like rare developmental disorder. ( 26424820 )
2015
10
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
11
Valgus deformity caused by dysplasia epiphysealis hemimelica in the knee. ( 24625946 )
2014
12
Dysplasia epiphysealis hemimelica - diagnostics and treatment in pediatric patients. ( 24941028 )
2014
13
Dysplasia epiphysealis hemimelica: a case report. ( 25536815 )
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. ( 25121391 )
2014
17
Dysplasia epiphysealis hemimelica: a diagnostic dilemma for orthopedic surgeons and a nightmare for parents. ( 24625930 )
2014
18
Diagnosis and surgical treatment of dysplasia epiphysealis hemimelica. A report of nine cases. ( 25453924 )
2014
19
A rare case of Trevor's disease (dysplasia epiphysealis hemimelica) in the elbow. ( 23206405 )
2013
20
Dysplasia epiphysealis hemimelica of talus mimicking posterior ankle impingement syndrome in a young male: a case report with review of the literature. ( 23669004 )
2013
21
Imaging of dysplasia epiphysealis hemimelica (Trevor's disease). ( 23040212 )
2013
22
Dysplasia epiphysealis hemimelica: a huge articular mass with unpredictable surgical results. ( 23175015 )
2012
23
Bilateral dysplasia epiphysealis hemimelica of the talus associated with a lower leg intramuscular cartilaginous mass. ( 21965143 )
2012
24
Treatment of dysplasia epiphysealis hemimelica: a systematic review of published reports and a report of seven patients. ( 22819617 )
2012
25
Trevor's disease (dysplasia epiphysealis hemimelica) located at the hand: case report and review of the literature. ( 21236611 )
2011
26
Treatment of proximal humeral dysplasia epiphysealis hemimelica with custom hemiarthroplasty: a case report. ( 22078324 )
2011
27
Dysplasia epiphysealis hemimelica of the ankle joint: a case report. ( 21857058 )
2011
28
Dysplasia epiphysealis hemimelica: a report of four cases. ( 21276564 )
2011
29
Dysplasia epiphysealis hemimelica of the elbow. ( 20539242 )
2011
30
Answer to Case of the Month #160. Dysplasia epiphysealis hemimelica (Trevor's disease). ( 20117667 )
2010
31
Dysplasia epiphysealis hemimelica: a case report. ( 21809611 )
2010
32
Dysplasia epiphysealis hemimelica: radiographic and magnetic resonance imaging features and clinical outcome of complete and incomplete resection. ( 19813010 )
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
Dysplasia epiphysealis hemimelica with involvement of the hip and spine in a young girl. ( 18591609 )
2008
37
Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement. ( 18810433 )
2008
38
Trevor's disease: the clinical manifestations and treatment of dysplasia epiphysealis hemimelica. ( 17527110 )
2007
39
Dysplasia epiphysealis hemimelica with associated osteochondral lesion of the talus: a case report and review of the literature. ( 17592704 )
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: two cases in two different regional expression. ( 17762680 )
2007
42
Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. ( 17490719 )
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
Dysplasia epiphysealis hemimelica in a young girl: role of MRI in the diagnosis and follow-up. ( 15797503 )
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 of the carpus. ( 15766442 )
2005
50
Dysplasia epiphysealis hemimelica (Trevor's disease) of the acetabulum. ( 15843949 )
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 acetylglucosaminyltransferase activity GO:0008375 9.32 EXT1 EXT2
4 glucuronosyltransferase activity GO:0015020 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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