MCID: DYS048
MIFTS: 33

Dysplasia Epiphysealis Hemimelica malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Dysplasia Epiphysealis Hemimelica

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Dysplasia Epiphysealis Hemimelica:

Name: Dysplasia Epiphysealis Hemimelica 50 46 52 66
 
Trevor Disease 46 52

Characteristics:

Orphanet epidemiological data:

52
dysplasia epiphysealis hemimelica:
Inheritance: Autosomal dominant

Classifications:



External Ids:

OMIM50 127800
Orphanet52 ORPHA1822
ICD10 via Orphanet29 Q74.8
MESH via Orphanet38 C537997
UMLS via Orphanet67 C0432282

Summaries for Dysplasia Epiphysealis Hemimelica

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NIH Rare Diseases:46 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:69 Trevor disease, also known as Fairbank\'s disease and Trevor\'s disease, is a congenital bone... more...

Description from OMIM:50 127800

Related Diseases for Dysplasia Epiphysealis Hemimelica

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



Diseases related to dysplasia epiphysealis hemimelica

Symptoms for Dysplasia Epiphysealis Hemimelica

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Symptoms by clinical synopsis from OMIM:

127800

Clinical features from OMIM:

127800

Symptoms:

 52 (show all 16)
  • joint stiffness
  • pes planus
  • bone pain
  • recurrent fractures
  • osteoarthritis
  • abnormality of the femur
  • genu valgum
  • genu varum
  • abnormality of the femoral neck
  • accelerated skeletal maturation
  • abnormality of epiphysis morphology
  • tarsal synostosis
  • flattened femoral head
  • irregular epiphyses
  • asymmetric growth
  • exostoses

HPO human phenotypes related to Dysplasia Epiphysealis Hemimelica:

(show all 14)
id Description Frequency HPO Source Accession
1 limitation of joint mobility hallmark (90%) HP:0001376
2 pes planus hallmark (90%) HP:0001763
3 bone pain hallmark (90%) HP:0002653
4 osteoarthritis hallmark (90%) HP:0002758
5 accelerated skeletal maturation hallmark (90%) HP:0005616
6 abnormality of epiphysis morphology hallmark (90%) HP:0005930
7 tarsal synostosis hallmark (90%) HP:0008368
8 asymmetric growth hallmark (90%) HP:0100555
9 exostoses hallmark (90%) HP:0100777
10 genu valgum typical (50%) HP:0002857
11 genu varum typical (50%) HP:0002970
12 recurrent fractures occasional (7.5%) HP:0002757
13 abnormality of the femur occasional (7.5%) HP:0002823
14 overgrowth HP:0001548

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:

34
Bone

Animal Models for Dysplasia Epiphysealis Hemimelica or affiliated genes

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Publications for Dysplasia Epiphysealis Hemimelica

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Articles related to Dysplasia Epiphysealis Hemimelica:

(show top 50)    (show all 119)
idTitleAuthorsYear
1
Dysplasia epiphysealis hemimelica (Trevor disease) in the ankle. (27103813)
2016
2
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
3
Dysplasia epiphysealis hemimelica of the knee: an unusual presentation with intra-articular loose bodies and literature review. (25647567)
2015
4
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
5
Diagnosis and surgical treatment of dysplasia epiphysealis hemimelica. A report of nine cases. (25453924)
2014
6
Dysplasia epiphysealis hemimelica (trevor syndrome) of talus in a 21-year old woman; case report. (25207317)
2014
7
A rare case of Trevor's disease (dysplasia epiphysealis hemimelica) in the elbow. (23206405)
2013
8
Dysplasia epiphysealis hemimelica of talus mimicking posterior ankle impingement syndrome in a young male: a case report with review of the literature. (23669004)
2013
9
Bilateral dysplasia epiphysealis hemimelica of the talus associated with a lower leg intramuscular cartilaginous mass. (21965143)
2012
10
Dysplasia epiphysealis hemimelica: a report of four cases. (21276564)
2011
11
Dysplasia epiphysealis hemimelica of the ankle joint: a case report. (21857058)
2011
12
Treatment of proximal humeral dysplasia epiphysealis hemimelica with custom hemiarthroplasty: a case report. (22078324)
2011
13
Dysplasia epiphysealis hemimelica: a case report. (21809611)
2010
14
Dysplasia epiphysealis hemimelica: radiographic and magnetic resonance imaging features and clinical outcome of complete and incomplete resection. (19813010)
2010
15
Dysplasia epiphysealis hemimelica of the talus. (19384636)
2009
16
Dysplasia epiphysealis hemimelica with involvement of the hip and spine in a young girl. (18591609)
2008
17
Dysplasia epiphysealis hemimelica (Trevor's disease): 7 of our own cases and a review of the literature. (18236195)
2007
18
Trevor's disease: the clinical manifestations and treatment of dysplasia epiphysealis hemimelica. (17527110)
2007
19
Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. (17490719)
2007
20
Best cases from the AFIP: dysplasia epiphysealis hemimelica of the patella. (16549618)
2006
21
EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis. (16622899)
2006
22
Dysplasia epiphysealis hemimelica of the talus: two case reports. (15872407)
2005
23
Dysplasia epiphysealis hemimelica of the carpus. (15766442)
2005
24
Early loss of hip containment in a child with dysplasia epiphysealis hemimelica. (15552160)
2004
25
Dysplasia epiphysealis hemimelica of the hand: two cases at the proximal interphalangeal joint. (15552559)
2004
26
Wedge excision chondroplasty of the knee in dysplasia epiphysealis hemimelica--report of 2 cases. (12807335)
2003
27
Scintigraphic findings of dysplasia epiphysealis hemimelica: a case report. (11201484)
2001
28
Dysplasia epiphysealis hemimelica: clinical features and management. (9661870)
1998
29
Dysplasia epiphysealis hemimelica of the sacroiliac joint: a case report. (8981897)
1996
30
MRI findings of dysplasia epiphysealis hemimelica. (8599001)
1996
31
Dysplasia epiphysealis hemimelica. Upper limb involvement with associated osteochondroma. (7924021)
1994
32
Radiologic case study. Trevor disease: dysplasia epiphysealis hemimelica. (7937381)
1994
33
A hamartomatous joint mimicking dysplasia epiphysealis hemimelica of the talus. (7719771)
1994
34
Case report 632. Parosteal osteochondromatous hamartoma associated with Trevor's disease (dysplasia epiphysealis hemimelica). (2000504)
1991
35
Computed tomography in the diagnosis of dysplasia epiphysealis hemimelica. (2598078)
1989
36
Dysplasia epiphysealis hemimelica. (2692175)
1989
37
Dysplasia epiphysealis hemimelica of the carpal bones. Report of a case with a long-term follow-up after conservative treatment--review of the literature. (3286022)
1988
38
Dysplasia epiphysealis hemimelica of the ulna. (3792397)
1986
39
Dysplasia epiphysealis hemimelica presenting as a progressive, painful flatfoot deformity. (3815846)
1986
40
Dysplasia epiphysealis hemimelica. A case report and literature review. (4057062)
1985
41
Case report 305. Dysplasia epiphysealis hemimelica (Trevor disease) of left ankle with an associated osteochondral (post-traumatic) fracture fragment, probably arising from talus. (3975664)
1985
42
Dysplasia epiphysealis hemimelica. (A review of 19 cases). (6432738)
1984
43
Dysplasia epiphysealis hemimelica. (6863838)
1983
44
Dysplasia epiphysealis hemimelica. Clinical, histological and histochemical features. (6411654)
1983
45
A unique case of dysplasia epiphysealis hemimelica of the patella. (7285421)
1981
46
Dysplasia epiphysealis hemimelica of the scapula. A case report. (7358760)
1980
47
Variability of unilateral epiphyseal dysplasia (dysplasia epiphysealis hemimelica). (493522)
1979
48
Dysplasia epiphysealis hemimelica of the ulna. (709949)
1978
49
Dysplasia epiphysealis hemimelica. (1274547)
1976
50
Dysplasia epiphysealis hemimelica (tarso-epiphyseal aclasis). (13449609)
1957

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:00336929.7EXT1, EXT2
2glycosaminoglycan biosynthetic processGO:00060249.6EXT1, EXT2
3heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:00150149.3EXT1, EXT2
4protein glycosylationGO:00064869.1EXT1, EXT2
5heparan sulfate proteoglycan biosynthetic processGO:00150129.1EXT1, EXT2
6ossificationGO:00015038.8EXT1, EXT2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1heparan sulfate N-acetylglucosaminyltransferase activityGO:00423289.8EXT1, EXT2
2N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:00505099.8EXT1, EXT2
3glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:00505089.8EXT1, EXT2
4acetylglucosaminyltransferase activityGO:00083759.7EXT1, EXT2
5glucuronosyltransferase activityGO:00150209.6EXT1, EXT2
6transferase activity, transferring glycosyl groupsGO:00167579.4EXT1, EXT2
7protein heterodimerization activityGO:00469829.1EXT1, EXT2
8protein homodimerization activityGO:00428038.8EXT1, EXT2

Sources for Dysplasia Epiphysealis Hemimelica

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet