MCID: DYS048
MIFTS: 33

Dysplasia Epiphysealis Hemimelica malady

Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Dysplasia Epiphysealis Hemimelica

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Sources:
45NIH Rare Diseases, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Dysplasia Epiphysealis Hemimelica:

Name: Dysplasia Epiphysealis Hemimelica 45 51
 
Trevor Disease 45 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
dysplasia epiphysealis hemimelica:
Inheritance: Autosomal dominant


External Ids:

Orphanet51 1822
ICD10 via Orphanet28 Q74.8
MESH via Orphanet37 C537997
UMLS via Orphanet66 C0432282

Summaries for Dysplasia Epiphysealis Hemimelica

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NIH Rare Diseases:45 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 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/heparin (HS-GAG) metabolism. Affiliated tissues include bone.

Wikipedia:68 Trevor disease, also known as Fairbank\'s disease and Trevor\'s disease, is a congenital bone... more...

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:

 51 (show all 13)
  • tarsal anomaly/fusion/synostosis
  • flat foot
  • exostoses
  • advanced bone age
  • bone pain
  • epiphyseal anomaly
  • osteoarthritis
  • restricted joint mobility/joint stiffness/ankylosis
  • asymmetry of the body/hemiatrophy/hemihyperthrophy
  • genu valgum
  • genu varum
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • mutiple fractures/bone fragility

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:

33
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 117)
idTitleAuthorsYear
1
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
2
Dysplasia epiphysealis hemimelica of the knee: an unusual presentation with intra-articular loose bodies and literature review. (25647567)
2015
3
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
4
Diagnosis and surgical treatment of dysplasia epiphysealis hemimelica. A report of nine cases. (25453924)
2014
5
Valgus deformity caused by dysplasia epiphysealis hemimelica in the knee. (25121391)
2014
6
Dysplasia Epiphysealis Hemimelica with Involvement of the Distal Tibial Epiphysis and Talus: Recurrence of a Case and Literature Review. (24412001)
2014
7
Dysplasia epiphysealis hemimelica (trevor syndrome) of talus in a 21-year old woman; case report. (25207317)
2014
8
A rare case of Trevor's disease (dysplasia epiphysealis hemimelica) in the elbow. (23206405)
2013
9
Dysplasia epiphysealis hemimelica: a report of four cases. (21276564)
2011
10
Dysplasia epiphysealis hemimelica of the ankle joint: a case report. (21857058)
2011
11
Trevor's disease (dysplasia epiphysealis hemimelica) located at the hand: case report and review of the literature. (21236611)
2011
12
Treatment of proximal humeral dysplasia epiphysealis hemimelica with custom hemiarthroplasty: a case report. (22078324)
2011
13
Answer to Case of the Month #160. Dysplasia epiphysealis hemimelica (Trevor's disease). (20117667)
2010
14
Dysplasia epiphysealis hemimelica of the talus. (19384636)
2009
15
Dysplasia epiphysealis hemimelica with involvement of the hip and spine in a young girl. (18591609)
2008
16
Dysplasia epiphysealis hemimelica: two cases in two different regional expression. (17762680)
2007
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
Best cases from the AFIP: dysplasia epiphysealis hemimelica of the patella. (16549618)
2006
20
Dysplasia epiphysealis hemimelica of the talus: two case reports. (15872407)
2005
21
Evaluation, imaging, histology and operative treatment for dysplasia epiphysealis hemimelica (Trevor disease) of the acetabulum: a case report and review. (16089075)
2005
22
Dysplasia epiphysealis hemimelica of the carpus. (15766442)
2005
23
Early loss of hip containment in a child with dysplasia epiphysealis hemimelica. (15552160)
2004
24
A case of osteocartilaginous mass involving the coronoid process of the ulna: solitary osteochondroma or dysplasia epiphysealis hemimelica? (14564279)
2003
25
Wedge excision chondroplasty of the knee in dysplasia epiphysealis hemimelica--report of 2 cases. (12807335)
2003
26
Limb-lengthening and angular correction for dysplasia epiphysealis hemimelica. (11479766)
2001
27
Dysplasia epiphysealis hemimelica with carpal instability. (9665543)
1998
28
Dysplasia epiphysealis hemimelica (Trevor's disease) of the distal radius. (9586260)
1998
29
Dysplasia epiphysealis hemimelica (Trevor's disease) of the distal radius. (9828487)
1998
30
Dysplasia epiphysealis hemimelica of the sacroiliac joint: a case report. (8981897)
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
Dysplasia epiphysealis hemimelica--three different types in the ankle joint. (3358672)
1988
35
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
36
Dysplasia epiphysealis hemimelica at the metacarpophalangeal joint. (3225418)
1988
37
Asymmetric dysplasia epiphysealis hemimelica. (3399447)
1988
38
Dysplasia epiphysealis hemimelica of the ulna. (3567472)
1987
39
Dysplasia epiphysealis hemimelica of the ulna. (3792397)
1986
40
Dysplasia epiphysealis hemimelica. A case report and literature review. (4057062)
1985
41
The variable manifestations of dysplasia epiphysealis hemimelica. (3969295)
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 ulna. (709949)
1978
47
Dysplasia epiphysealis hemimelica. (1274547)
1976
48
Dysplasia epiphysealis hemimelica. (4770139)
1973
49
Dysplasia epiphysealis hemimelica: a case simulating an intra-articular body. (4625878)
1972
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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Pathways related to Dysplasia Epiphysealis Hemimelica according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1EXT1, EXT2
2
Show member pathways
9.1EXT1, EXT2
3
Show member pathways
9.1EXT1, EXT2

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:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cellular polysaccharide biosynthetic processGO:00336929.7EXT1, EXT2
2glycosaminoglycan biosynthetic processGO:00060249.6EXT1, EXT2
3heparan sulfate proteoglycan biosynthetic processGO:00150129.6EXT1, EXT2
4heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:00150149.3EXT1, EXT2
5protein glycosylationGO:00064869.2EXT1, EXT2
6ossificationGO:00015039.1EXT1, EXT2
7carbohydrate metabolic processGO:00059759.0EXT1, EXT2
8glycosaminoglycan metabolic processGO:00302038.8EXT1, 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
2glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:00505089.8EXT1, EXT2
3N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:00505099.8EXT1, EXT2
4acetylglucosaminyltransferase activityGO:00083759.7EXT1, EXT2
5glucuronosyltransferase activityGO:00150209.4EXT1, EXT2
6transferase activity, transferring glycosyl groupsGO:00167579.3EXT1, EXT2
7protein heterodimerization activityGO:00469829.1EXT1, EXT2
8protein homodimerization activityGO:00428038.8EXT1, EXT2

Sources for Dysplasia Epiphysealis Hemimelica

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet