MCID: DYS048
MIFTS: 41

Dysplasia Epiphysealis Hemimelica malady

Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Dysplasia Epiphysealis Hemimelica

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NIH Rare Diseases:42 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 tarsal anomaly/fusion/synostosis, flat foot and exostoses. An important gene associated with Dysplasia Epiphysealis Hemimelica is EXT2 (exostosin glycosyltransferase 2), and among its related pathways are Disease and MPS VI - Maroteaux-Lamy syndrome. The compounds Uridine diphosphate-N-acetylglucosamine and arginine have been mentioned in the context of this disorder. Affiliated tissues include bone.

Wikipedia:65 Trevor disease, also known as Fairbank\'s disease and Trevor\'s disease, is a congenital bone... more...

Description from OMIM:46 127800

Aliases & Classifications for Dysplasia Epiphysealis Hemimelica

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Sources:
42NIH Rare Diseases, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Dysplasia Epiphysealis Hemimelica, Aliases & Descriptions:

Name: Dysplasia Epiphysealis Hemimelica 42 48 46
 
Trevor Disease 42 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
dysplasia epiphysealis hemimelica:
Inheritance: Autosomal dominant


External Ids:

OMIM46 127800
MESH via Orphanet35 C537997
ICD10 via Orphanet26 Q74.8
UMLS via Orphanet63 C0432282

Related Diseases for Dysplasia Epiphysealis Hemimelica

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

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1osteochondroma31.1EXT1, EXT2
2carpotarsal osteochondromatosis10.5
3arthritis10.4
4rheumatoid arthritis10.4
5polydactyly10.4
6juvenile rheumatoid arthritis10.4
7syndactyly10.4
8chondroma10.4
9fairbank disease10.4
10metachondromatosis10.4
11spasticity10.4
12hereditary multiple osteochondromas10.0EXT1, EXT2
13hereditary multiple exostoses10.0EXT1, EXT2
14ollier disease10.0EXT2, EXT1
15exostosis9.9EXT1, EXT2
16autosomal dominant disease9.9EXT1, EXT2
17bone cancer9.9EXT1, EXT2
18sarcoma9.9EXT1, EXT2
19secondary syphilis9.8EXT1, EXT2
20chondrosarcoma9.8EXT2, EXT1

Graphical network of 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:

48 (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 15)
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 the epiphyses 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 abnormality of the skeletal system HP:0000924
15 overgrowth HP:0001548

Drugs & Therapeutics for Dysplasia Epiphysealis Hemimelica

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Drug clinical trials:

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Search 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:

32
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 109)
idTitleAuthorsYear
1
Valgus deformity caused by dysplasia epiphysealis hemimelica in the knee. (25121391)
2014
2
Dysplasia Epiphysealis Hemimelica with Involvement of the Distal Tibial Epiphysis and Talus: Recurrence of a Case and Literature Review. (24412001)
2014
3
Dysplasia epiphysealis hemimelica (trevor syndrome) of talus in a 21-year old woman; case report. (25207317)
2014
4
A rare case of Trevor's disease (dysplasia epiphysealis hemimelica) in the elbow. (23206405)
2013
5
Dysplasia epiphysealis hemimelica: a report of four cases. (21276564)
2011
6
Dysplasia epiphysealis hemimelica of the ankle joint: a case report. (21857058)
2011
7
Trevor's disease (dysplasia epiphysealis hemimelica) located at the hand: case report and review of the literature. (21236611)
2011
8
Treatment of proximal humeral dysplasia epiphysealis hemimelica with custom hemiarthroplasty: a case report. (22078324)
2011
9
Dysplasia epiphysealis hemimelica of the elbow. (20539242)
2011
10
Answer to Case of the Month #160. Dysplasia epiphysealis hemimelica (Trevor's disease). (20117667)
2010
11
Dysplasia epiphysealis hemimelica: a case report. (21809611)
2010
12
Dysplasia epiphysealis hemimelica of the talus. (19384636)
2009
13
Dysplasia epiphysealis hemimelica with involvement of the hip and spine in a young girl. (18591609)
2008
14
Dysplasia epiphysealis hemimelica: two cases in two different regional expression. (17762680)
2007
15
Dysplasia epiphysealis hemimelica (Trevor's disease): 7 of our own cases and a review of the literature. (18236195)
2007
16
Trevor's disease: the clinical manifestations and treatment of dysplasia epiphysealis hemimelica. (17527110)
2007
17
Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. (17490719)
2007
18
Best cases from the AFIP: dysplasia epiphysealis hemimelica of the patella. (16549618)
2006
19
Dysplasia epiphysealis hemimelica of the talus: two case reports. (15872407)
2005
20
Evaluation, imaging, histology and operative treatment for dysplasia epiphysealis hemimelica (Trevor disease) of the acetabulum: a case report and review. (16089075)
2005
21
Dysplasia epiphysealis hemimelica of the carpus. (15766442)
2005
22
A case of osteocartilaginous mass involving the coronoid process of the ulna: solitary osteochondroma or dysplasia epiphysealis hemimelica? (14564279)
2003
23
Wedge excision chondroplasty of the knee in dysplasia epiphysealis hemimelica--report of 2 cases. (12807335)
2003
24
Limb-lengthening and angular correction for dysplasia epiphysealis hemimelica. (11479766)
2001
25
Dysplasia epiphysealis hemimelica with carpal instability. (9665543)
1998
26
Dysplasia epiphysealis hemimelica (Trevor's disease) of the distal radius. (9586260)
1998
27
Dysplasia epiphysealis hemimelica (Trevor's disease) of the distal radius. (9828487)
1998
28
Dysplasia epiphysealis hemimelica of the sacroiliac joint: a case report. (8981897)
1996
29
MRI findings of dysplasia epiphysealis hemimelica. (8599001)
1996
30
Dysplasia epiphysealis hemimelica. Upper limb involvement with associated osteochondroma. (7924021)
1994
31
Radiologic case study. Trevor disease: dysplasia epiphysealis hemimelica. (7937381)
1994
32
A hamartomatous joint mimicking dysplasia epiphysealis hemimelica of the talus. (7719771)
1994
33
Dysplasia epiphysealis hemimelica--three different types in the ankle joint. (3358672)
1988
34
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
35
Dysplasia epiphysealis hemimelica at the metacarpophalangeal joint. (3225418)
1988
36
Asymmetric dysplasia epiphysealis hemimelica. (3399447)
1988
37
Dysplasia epiphysealis hemimelica of the ulna. (3567472)
1987
38
Dysplasia epiphysealis hemimelica of the ulna. (3792397)
1986
39
Mixed sclerosing bone dysplasia coexisting with dysplasia epiphysealis hemimelica (Trevor-Fairbank disease). (3764472)
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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Expression patterns in normal tissues for genes affiliated with Dysplasia Epiphysealis Hemimelica

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

Pathways for genes affiliated with Dysplasia Epiphysealis Hemimelica

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Compounds for genes affiliated with Dysplasia Epiphysealis Hemimelica

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Sources:
24HMDB, 44Novoseek
See all sources

Compounds related to Dysplasia Epiphysealis Hemimelica according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Uridine diphosphate-N-acetylglucosamine249.1EXT1, EXT2
2arginine449.1EXT1, EXT2
3Uridine 5'-diphosphate249.0EXT1, EXT2
4heparan sulfate44 249.8EXT1, EXT2

GO Terms for genes affiliated with Dysplasia Epiphysealis Hemimelica

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Cellular components related to Dysplasia Epiphysealis Hemimelica according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi membraneGO:0001399.1EXT1, EXT2
2Golgi apparatusGO:0057949.1EXT1, EXT2
3endoplasmic reticulumGO:0057839.0EXT1, EXT2
4endoplasmic reticulum membraneGO:0057898.8EXT1, EXT2

Biological processes related to Dysplasia Epiphysealis Hemimelica according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cellular polysaccharide biosynthetic processGO:0336929.3EXT1, EXT2
2heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:0150149.3EXT1, EXT2
3heparan sulfate proteoglycan biosynthetic processGO:0150129.3EXT1, EXT2
4glycosaminoglycan biosynthetic processGO:0060249.2EXT1, EXT2
5ossificationGO:0015039.2EXT2, EXT1
6protein glycosylationGO:0064869.1EXT1, EXT2
7signal transductionGO:0071659.1EXT1, EXT2
8glycosaminoglycan metabolic processGO:0302039.0EXT1, EXT2
9carbohydrate metabolic processGO:0059758.8EXT1, EXT2

Molecular functions related to Dysplasia Epiphysealis Hemimelica according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1heparan sulfate N-acetylglucosaminyltransferase activityGO:0423289.3EXT1, EXT2
2N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:0505099.3EXT1, EXT2
3glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:0505089.2EXT1, EXT2
4acetylglucosaminyltransferase activityGO:0083759.2EXT1, EXT2
5transferase activity, transferring glycosyl groupsGO:0167579.1EXT2, EXT1
6protein homodimerization activityGO:0428039.1EXT1, EXT2
7glucuronosyltransferase activityGO:0150209.0EXT1, EXT2
8protein heterodimerization activityGO:0469828.8EXT1, EXT2

Products for genes affiliated with Dysplasia Epiphysealis Hemimelica

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  • Antibodies
  • Proteins
  • Lysates

Sources for Dysplasia Epiphysealis Hemimelica

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet