MCID: DYS048
MIFTS: 34

Dysplasia Epiphysealis Hemimelica

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Dysplasia Epiphysealis Hemimelica

MalaCards integrated aliases for Dysplasia Epiphysealis Hemimelica:

Name: Dysplasia Epiphysealis Hemimelica 57 73 20 58 70
Trevor Disease 57 73 20 58

Characteristics:

Orphanet epidemiological data:

58
dysplasia epiphysealis hemimelica
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
no familial case reported


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 127800
MESH via Orphanet 45 C537997
ICD10 via Orphanet 33 Q74.8
UMLS via Orphanet 71 C0432282
Orphanet 58 ORPHA1822
MedGen 41 C0432282
UMLS 70 C0432282

Summaries for Dysplasia Epiphysealis Hemimelica

GARD : 20 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 exostosis. 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 : 73 Trevor disease, also known as dysplasia epiphysealis hemimelica and Trevor's disease, is a congenital... more...

More information from OMIM: 127800

Related Diseases for Dysplasia Epiphysealis Hemimelica

Diseases related to Dysplasia Epiphysealis Hemimelica via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 osteochondroma 31.1 EXT2 EXT1
2 exostosis 30.5 EXT2 EXT1
3 hereditary multiple osteochondromas 30.3 EXT2 EXT1
4 metachondromatosis 30.0 EXT2 EXT1
5 hereditary multiple exostoses 30.0 EXT2 EXT1
6 odontochondrodysplasia 29.8 EXT2 EXT1
7 exostoses, multiple, type i 29.5 EXT2 EXT1
8 dysplasia epiphysealis hemimelica with chondromas and osteochondromas 11.6
9 overgrowth syndrome 11.0
10 hyperostosis 10.4
11 synovial chondromatosis 10.4
12 exostoses, multiple, type ii 10.2
13 macrodactyly 10.2
14 chromosome 2q35 duplication syndrome 10.2
15 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
16 hemihyperplasia, isolated 10.2
17 osteogenic sarcoma 10.2
18 polydactyly 10.2
19 ankylosis 10.2
20 juxtacortical osteosarcoma 10.2
21 juvenile rheumatoid arthritis 10.2
22 skeletal dysplasias 10.2
23 primary bone dysplasia with increased bone density 10.2
24 paresthesia 10.0
25 ankylosing spondylitis 3 9.8 EXT2 EXT1
26 juxtacortical chondroma 9.8 EXT2 EXT1
27 multiple enchondromatosis, maffucci type 9.8 EXT2 EXT1
28 trichorhinophalangeal syndrome, type ii 9.8 EXT2 EXT1
29 enchondromatosis, multiple, ollier type 9.8 EXT2 EXT1
30 mucopolysaccharidosis iii 9.7 EXT2 EXT1
31 bone remodeling disease 9.7 EXT2 EXT1
32 bone sarcoma 9.7 EXT2 EXT1
33 chondrosarcoma 9.7 EXT2 EXT1
34 bone disease 9.6 EXT2 EXT1

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



Diseases related to Dysplasia Epiphysealis Hemimelica

Symptoms & Phenotypes for Dysplasia Epiphysealis Hemimelica

Human phenotypes related to Dysplasia Epiphysealis Hemimelica:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
3 osteoarthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002758
4 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
5 asymmetric growth 58 31 hallmark (90%) Very frequent (99-80%) HP:0100555
6 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
7 tarsal synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008368
8 exostoses 58 31 hallmark (90%) Very frequent (99-80%) HP:0100777
9 irregular epiphyses 58 31 hallmark (90%) Very frequent (99-80%) HP:0010582
10 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
11 genu varum 58 31 frequent (33%) Frequent (79-30%) HP:0002970
12 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
13 flattened femoral head 58 31 occasional (7.5%) Occasional (29-5%) HP:0008812
14 abnormal femoral neck morphology 31 occasional (7.5%) HP:0003367
15 abnormality of the skeletal system 31 HP:0000924
16 abnormality of femur morphology 58 Occasional (29-5%)
17 abnormality of epiphysis morphology 58 Very frequent (99-80%)
18 abnormality of the femoral neck 58 Occasional (29-5%)
19 overgrowth 31 HP:0001548

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skel:
asymmetrical cartilaginous overgrowth of epiphyses, esp
tarsal or carpal

Misc:
3:1 m:f ratio

Clinical features from OMIM®:

127800 (Updated 05-Apr-2021)

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:

40
Bone

Publications for Dysplasia Epiphysealis Hemimelica

Articles related to Dysplasia Epiphysealis Hemimelica:

(show top 50) (show all 183)
# Title Authors PMID Year
1
Dysplasia epiphysealis hemimelica--Trevor disease. Severe manifestations in a child. 57 61
7262103 1981
2
Dysplasia epiphysealis hemimelica. A report of fifteen cases and a review of the literature. 57 61
15580741 1966
3
Dysplasia epiphysialis hemimelica (epiphyseal osteochondromata). Report of two cases and review of the literature. 57
4881354 1968
4
HEMIMELIC SKELETAL DYSPLASIA. 57
14251445 1964
5
Tarso-epiphysial aclasis; a congenital error of epiphysial development. 57
15422019 1950
6
Dysplasia epiphysealis hemimelica of the radial head: a rare case report. 61
33546632 2021
7
Dysplasia Epiphysealis Hemimelica (Trevor Disease) of the Patella: A Case Report. 61
32865949 2020
8
Trevor's disease of the distal radioulnar joint in two children with achondroplasia. 61
32112622 2020
9
TKA in the treatment of bilateral dysplasia epiphysealis hemimelica (Trevor's Disease) of the knee in a 50-year-old man: a case report. 61
32171273 2020
10
Dysplasia Epiphysealis Hemimelica Can Be Controlled by Growth Modulation: A Case Report. 61
32224672 2020
11
Dysplasia Epiphysealis Hemimelica/Trevor Disease: Report of a Lesion Solely Involving the Lunate Bone: A Case Report. 61
31651441 2019
12
Dysplasia epiphysealis hemimelica combined with contralateral accessory scaphoid bone: A case report and literature review. 61
31702664 2019
13
Benign bone tumours of tibial tuberosity clinically mimicking Osgood-Schlatter disease: a case series. 61
31511951 2019
14
Asymptomatic Dysplasia Epiphysealis Hemimelica of the Shoulder in a Skeletally Mature Patient with Normal Function. 61
31032136 2019
15
Combined Anterior and Posterior Ankle Arthroscopy for Dysplasia Epiphysealis Hemimelica of the Ankle in a Child: A Case Report. 61
31245329 2019
16
More Than Epiphyseal Osteochondromas: Updated Understanding of Imaging Findings in Dysplasia Epiphysealis Hemimelica (Trevor Disease). 61
30160986 2018
17
Osteotomy as a treatment option in dysplasia epiphyseal hemimelica of the distal radius: a case report. 61
28704296 2018
18
Arthroscopic treatment of intra-articular dysplasia epiphysealis hemimelica of the knee. 61
30083322 2018
19
Trevor's disease: up-to-date review of the literature with case series. 61
27082230 2017
20
The Natural History of the Development of Trevor Disease of the Hip and Subsequent Arthroplasty: A Case Report. 61
29252895 2017
21
Dysplasia epiphysealis hemimelica: a histological comparative study with osteochondromas. 61
28828057 2017
22
Arthroscopic Treatment of 2 Consecutive Cases of Dysplasia Epiphysealis Hemimelica of the Ankle: A 5-Year Follow-Up Report. 61
28638670 2017
23
Dysplasia epiphysealis hemimelica of the lower limb. 61
27743034 2017
24
Novel case of Trevor's disease: Adult onset and later recurrence. 61
28144583 2017
25
Trevor's Disease: Management Difficulties and Proposed Classification. 61
27248334 2016
26
Dysplasia epiphysealis hemimelica (Trevor disease) in the ankle. 61
27103813 2016
27
Dysplasia epiphysealis hemimelica of the ankle: a fracture-like rare developmental disorder. 61
26424820 2015
28
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. 61
26218901 2015
29
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. 61
26035353 2015
30
Dysplasia epiphysealis hemimelica of the knee: an unusual presentation with intra-articular loose bodies and literature review. 61
25647567 2015
31
Dysplasia epiphysealis hemimelica (Trevor disease) of the ankle. 61
25866956 2015
32
Dysplasia Epiphysealis Hemimelica Treated with Osteochondral Allograft: A Case Report. 61
26361443 2015
33
Diagnosis and surgical treatment of dysplasia epiphysealis hemimelica. A report of nine cases. 61
25453924 2014
34
Dysplasia epiphysealis hemimelica: a case report. 61
25536815 2014
35
Valgus deformity caused by dysplasia epiphysealis hemimelica in the knee. 61
25121391 2014
36
Dysplasia epiphysealis hemimelica - diagnostics and treatment in pediatric patients. 61
24941028 2014
37
Dysplasia epiphysealis hemimelica (trevor syndrome) of talus in a 21-year old woman; case report. 61
25207317 2014
38
Dysplasia epiphysealis hemimelica with involvement of the distal tibial epiphysis and talus: recurrence of a case and literature review. 61
24412001 2014
39
Trevor Disease (Hemimelic Epiphyseal Displasia): 12-year Follow-up Case Report and Literature Review. 61
25031921 2014
40
Trevor's Disease: A Literature Review regarding Classification, Treatment, and Prognosis apropos of a Case. 61
25054073 2014
41
Valgus deformity caused by dysplasia epiphysealis hemimelica in the knee. 61
24625946 2014
42
Dysplasia epiphysealis hemimelica: a diagnostic dilemma for orthopedic surgeons and a nightmare for parents. 61
24625930 2014
43
Secondary synovial osteochondromatosis of the ankle in a child. 61
23860637 2013
44
[Case 50. Dysplasia epiphysealis hemimelica]. 61
22078859 2013
45
Dysplasia epiphysealis hemimelica of talus mimicking posterior ankle impingement syndrome in a young male: a case report with review of the literature. 61
23669004 2013
46
Imaging of dysplasia epiphysealis hemimelica (Trevor's disease). 61
23040212 2013
47
A rare case of Trevor's disease (dysplasia epiphysealis hemimelica) in the elbow. 61
23206405 2013
48
Dysplasia epiphysealis hemimelica: a huge articular mass with unpredictable surgical results. 61
23175015 2012
49
Treatment of dysplasia epiphysealis hemimelica: a systematic review of published reports and a report of seven patients. 61
22819617 2012
50
Bilateral dysplasia epiphysealis hemimelica of the talus associated with a lower leg intramuscular cartilaginous mass. 61
21965143 2012

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 EXT2 EXT1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.57 EXT2 EXT1
2 ossification GO:0001503 9.56 EXT2 EXT1
3 regulation of blood pressure GO:0008217 9.55 EXT2 EXT1
4 gene expression GO:0010467 9.54 EXT2 EXT1
5 glycosaminoglycan biosynthetic process GO:0006024 9.52 EXT2 EXT1
6 cellular response to fibroblast growth factor stimulus GO:0044344 9.51 EXT2 EXT1
7 vasodilation GO:0042311 9.49 EXT2 EXT1
8 sulfation GO:0051923 9.48 EXT2 EXT1
9 sodium ion homeostasis GO:0055078 9.46 EXT2 EXT1
10 heart contraction GO:0060047 9.43 EXT2 EXT1
11 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.4 EXT2 EXT1
12 heparin biosynthetic process GO:0030210 9.37 EXT2 EXT1
13 multicellular organismal water homeostasis GO:0050891 9.32 EXT2 EXT1
14 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.26 EXT2 EXT1
15 endochondral bone morphogenesis GO:0060350 9.16 EXT2 EXT1
16 fluid transport GO:0042044 8.96 EXT2 EXT1
17 cellular polysaccharide biosynthetic process GO:0033692 8.62 EXT2 EXT1

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

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

Sources for Dysplasia Epiphysealis Hemimelica

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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