MCID: DYS048
MIFTS: 32

Dysplasia Epiphysealis Hemimelica malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Dysplasia Epiphysealis Hemimelica

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Sources:
31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Dysplasia Epiphysealis Hemimelica:

Name: Dysplasia Epiphysealis Hemimelica 52 48 54 68
 
Trevor Disease 48 54

Characteristics:

Orphanet epidemiological data:

54
dysplasia epiphysealis hemimelica:
Inheritance: Autosomal dominant

Classifications:



External Ids:

OMIM52 127800
Orphanet54 ORPHA1822
ICD10 via Orphanet31 Q74.8
MESH via Orphanet40 C537997
UMLS via Orphanet69 C0432282

Summaries for Dysplasia Epiphysealis Hemimelica

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NIH Rare Diseases:48 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 limitation of joint mobility, pes planus and bone pain. An important gene associated with Dysplasia Epiphysealis Hemimelica is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways are Glycosaminoglycan metabolism and heparan sulfate biosynthesis. 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:52 127800

Related Diseases for Dysplasia Epiphysealis Hemimelica

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Graphical network of diseases related to Dysplasia Epiphysealis Hemimelica:



Diseases related to dysplasia epiphysealis hemimelica

Symptoms & Phenotypes for Dysplasia Epiphysealis Hemimelica

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Symptoms by clinical synopsis from OMIM:

127800

Clinical features from OMIM:

127800

Human phenotypes related to Dysplasia Epiphysealis Hemimelica:

 64 54 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 limitation of joint mobility64 hallmark (90%) HP:0001376
2 pes planus64 54 hallmark (90%) Very frequent (99-80%) HP:0001763
3 bone pain64 54 hallmark (90%) Very frequent (99-80%) HP:0002653
4 osteoarthritis64 54 hallmark (90%) Very frequent (99-80%) HP:0002758
5 accelerated skeletal maturation64 54 hallmark (90%) Very frequent (99-80%) HP:0005616
6 abnormality of epiphysis morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0005930
7 tarsal synostosis64 54 hallmark (90%) Very frequent (99-80%) HP:0008368
8 asymmetric growth64 54 hallmark (90%) Very frequent (99-80%) HP:0100555
9 exostoses64 54 hallmark (90%) Very frequent (99-80%) HP:0100777
10 genu valgum64 54 typical (50%) Frequent (79-30%) HP:0002857
11 genu varum64 54 typical (50%) Frequent (79-30%) HP:0002970
12 recurrent fractures64 54 occasional (7.5%) Occasional (29-5%) HP:0002757
13 abnormality of the femur64 54 occasional (7.5%) Occasional (29-5%) HP:0002823
14 overgrowth64 HP:0001548
15 joint stiffness54 Very frequent (99-80%)
16 abnormality of the femoral neck54 Occasional (29-5%)
17 flattened femoral head54 Occasional (29-5%)
18 irregular epiphyses54 Very frequent (99-80%)

Drugs & Therapeutics for Dysplasia Epiphysealis Hemimelica

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Dysplasia Epiphysealis Hemimelica

Genetic Tests for Dysplasia Epiphysealis Hemimelica

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Anatomical Context for Dysplasia Epiphysealis Hemimelica

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MalaCards organs/tissues related to Dysplasia Epiphysealis Hemimelica:

36
Bone

Publications for Dysplasia Epiphysealis Hemimelica

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Articles related to Dysplasia Epiphysealis Hemimelica:

(show top 50)    (show all 120)
idTitleAuthorsYear
1
Dysplasia epiphysealis hemimelica of the lower limb. (27743034)
2017
2
Dysplasia epiphysealis hemimelica (Trevor disease) in the ankle. (27103813)
2016
3
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
4
Dysplasia epiphysealis hemimelica of the knee: an unusual presentation with intra-articular loose bodies and literature review. (25647567)
2015
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 of the ankle: a fracture-like rare developmental disorder. (26424820)
2015
8
Dysplasia epiphysealis hemimelica (trevor disease) of the ankle. (25866956)
2015
9
Diagnosis and surgical treatment of dysplasia epiphysealis hemimelica. A report of nine cases. (25453924)
2014
10
Dysplasia epiphysealis hemimelica (trevor syndrome) of talus in a 21-year old woman; case report. (25207317)
2014
11
Dysplasia epiphysealis hemimelica: a diagnostic dilemma for orthopedic surgeons and a nightmare for parents. (24625930)
2014
12
Dysplasia epiphysealis hemimelica: a case report. (25536815)
2014
13
Valgus deformity caused by dysplasia epiphysealis hemimelica in the knee. (25121391)
2014
14
Dysplasia Epiphysealis Hemimelica with Involvement of the Distal Tibial Epiphysis and Talus: Recurrence of a Case and Literature Review. (24412001)
2014
15
Valgus deformity caused by dysplasia epiphysealis hemimelica in the knee. (24625946)
2014
16
Dysplasia epiphysealis hemimelica - diagnostics and treatment in pediatric patients. (24941028)
2014
17
A rare case of Trevor's disease (dysplasia epiphysealis hemimelica) in the elbow. (23206405)
2013
18
Dysplasia epiphysealis hemimelica of talus mimicking posterior ankle impingement syndrome in a young male: a case report with review of the literature. (23669004)
2013
19
Imaging of dysplasia epiphysealis hemimelica (Trevor's disease). (23040212)
2013
20
Bilateral dysplasia epiphysealis hemimelica of the talus associated with a lower leg intramuscular cartilaginous mass. (21965143)
2012
21
Treatment of dysplasia epiphysealis hemimelica: a systematic review of published reports and a report of seven patients. (22819617)
2012
22
Dysplasia epiphysealis hemimelica: a huge articular mass with unpredictable surgical results. (23175015)
2012
23
Dysplasia epiphysealis hemimelica: a report of four cases. (21276564)
2011
24
Dysplasia epiphysealis hemimelica of the ankle joint: a case report. (21857058)
2011
25
Treatment of proximal humeral dysplasia epiphysealis hemimelica with custom hemiarthroplasty: a case report. (22078324)
2011
26
Trevor's disease (dysplasia epiphysealis hemimelica) located at the hand: case report and review of the literature. (21236611)
2011
27
Dysplasia epiphysealis hemimelica of the elbow. (20539242)
2011
28
Dysplasia epiphysealis hemimelica: a case report. (21809611)
2010
29
Dysplasia epiphysealis hemimelica: radiographic and magnetic resonance imaging features and clinical outcome of complete and incomplete resection. (19813010)
2010
30
Answer to Case of the Month #160. Dysplasia epiphysealis hemimelica (Trevor's disease). (20117667)
2010
31
Dysplasia epiphysealis hemimelica of the talus. (19384636)
2009
32
Dysplasia epiphysealis hemimelica of the distal ulna: a case report and review of the literature. (19541588)
2009
33
Dysplasia epiphysealis hemimelica: a case report with novel pathophysiologic aspects. (19526273)
2009
34
Dysplasia epiphysealis hemimelica with involvement of the hip and spine in a young girl. (18591609)
2008
35
Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement. (18810433)
2008
36
Dysplasia epiphysealis hemimelica (Trevor's disease): 7 of our own cases and a review of the literature. (18236195)
2007
37
Trevor's disease: the clinical manifestations and treatment of dysplasia epiphysealis hemimelica. (17527110)
2007
38
Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. (17490719)
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: two cases in two different regional expression. (17762680)
2007
41
Best cases from the AFIP: dysplasia epiphysealis hemimelica of the patella. (16549618)
2006
42
EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis. (16622899)
2006
43
Dysplasia epiphysealis hemimelica of the tibial tubercle. (16284759)
2006
44
Dysplasia epiphysealis hemimelica of the talus: two case reports. (15872407)
2005
45
Dysplasia epiphysealis hemimelica of the carpus. (15766442)
2005
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 in a young girl: role of MRI in the diagnosis and follow-up. (15797503)
2005
49
Dysplasia epiphysealis hemimelica (Trevor's disease) of the acetabulum. (15843949)
2005
50
Early loss of hip containment in a child with dysplasia epiphysealis hemimelica. (15552160)
2004

Variations for Dysplasia Epiphysealis Hemimelica

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Expression for genes affiliated with Dysplasia Epiphysealis Hemimelica

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

Pathways for genes affiliated with Dysplasia Epiphysealis Hemimelica

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GO Terms for genes affiliated with Dysplasia Epiphysealis Hemimelica

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

idNameGO IDScoreTop Affiliating Genes
1Golgi membraneGO:00001399.1EXT1, EXT2

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

idNameGO IDScoreTop Affiliating Genes
1cellular polysaccharide biosynthetic processGO:00336929.8EXT1, EXT2
2glycosaminoglycan biosynthetic processGO:00060249.7EXT1, EXT2
3heparan sulfate proteoglycan biosynthetic processGO:00150129.7EXT1, EXT2
4heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:00150149.7EXT1, EXT2
5ossificationGO:00015039.7EXT1, EXT2
6protein glycosylationGO:00064869.1EXT1, EXT2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1acetylglucosaminyltransferase activityGO:00083759.9EXT1, EXT2
2glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:00505089.9EXT1, EXT2
3glucuronosyltransferase activityGO:00150209.9EXT1, EXT2
4heparan sulfate N-acetylglucosaminyltransferase activityGO:00423289.9EXT1, EXT2
5N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:00505099.9EXT1, EXT2
6protein heterodimerization activityGO:00469829.8EXT1, EXT2
7protein homodimerization activityGO:00428039.7EXT1, EXT2
8transferase activity, transferring glycosyl groupsGO:00167579.1EXT1, EXT2

Sources for Dysplasia Epiphysealis Hemimelica

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet