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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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Dysplasia Epiphysealis Hemimelica, also known as trevor disease, is related to osteochondroma and carpotarsal osteochondromatosis, and has symptoms including advanced bone age, tarsal anomaly/fusion/synostosis and bone pain. 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:47 127800

Aliases & Classifications for Dysplasia Epiphysealis Hemimelica

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43NIH Rare Diseases, 49Orphanet, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
dysplasia epiphysealis hemimelica:
Inheritance: Autosomal dominant


Aliases & Descriptions:

dysplasia epiphysealis hemimelica 43 49 47
trevor disease 43 49


External Ids:

OMIM47 127800
MESH via Orphanet36 C537997
ICD10 via Orphanet26 Q74.8
SNOMED-CT via Orphanet59 205480005
UMLS via Orphanet63 C0432282

Related Diseases for Dysplasia Epiphysealis Hemimelica

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17GeneCards, 18GeneDecks
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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
3polydactyly10.4
4juvenile rheumatoid arthritis10.4
5syndactyly10.4
6arthritis10.4
7chondroma10.4
8rheumatoid arthritis10.4
9fairbank disease10.4
10metachondromatosis10.4
11spasticity10.4
12hereditary multiple osteochondromas10.0EXT2, EXT1
13hereditary multiple exostoses10.0EXT2, EXT1
14ollier disease10.0EXT2, EXT1
15exostosis10.0EXT2, EXT1
16autosomal dominant disease10.0EXT2, EXT1
17bone carcinoma10.0EXT1, EXT2
18sarcoma10.0EXT1, EXT2
19secondary syphilis10.0EXT1, EXT2
20chondrosarcoma9.9EXT2, 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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

127800

Clinical features from OMIM:

127800

Symptoms:

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

Drugs & Therapeutics for Dysplasia Epiphysealis Hemimelica

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Dysplasia Epiphysealis Hemimelica

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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33MalaCards
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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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52PubMed
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Articles related to Dysplasia Epiphysealis Hemimelica:

(show top 50)    (show all 103)
idTitleAuthorsYear
1
Dysplasia Epiphysealis Hemimelica with Involvement of the Distal Tibial Epiphysis and Talus: Recurrence of a Case and Literature Review. (24412001)
2014
2
A rare case of Trevor's disease (dysplasia epiphysealis hemimelica) in the elbow. (23206405)
2013
3
Dysplasia epiphysealis hemimelica: a report of four cases. (21276564)
2011
4
Dysplasia epiphysealis hemimelica of the ankle joint: a case report. (21857058)
2011
5
Trevor's disease (dysplasia epiphysealis hemimelica) located at the hand: case report and review of the literature. (21236611)
2011
6
Treatment of proximal humeral dysplasia epiphysealis hemimelica with custom hemiarthroplasty: a case report. (22078324)
2011
7
Dysplasia epiphysealis hemimelica of the elbow. (20539242)
2011
8
Answer to Case of the Month #160. Dysplasia epiphysealis hemimelica (Trevor's disease). (20117667)
2010
9
Dysplasia epiphysealis hemimelica: a case report. (21809611)
2010
10
Dysplasia epiphysealis hemimelica of the talus. (19384636)
2009
11
Dysplasia epiphysealis hemimelica with involvement of the hip and spine in a young girl. (18591609)
2008
12
Dysplasia epiphysealis hemimelica: two cases in two different regional expression. (17762680)
2007
13
Dysplasia epiphysealis hemimelica (Trevor's disease): 7 of our own cases and a review of the literature. (18236195)
2007
14
Trevor's disease: the clinical manifestations and treatment of dysplasia epiphysealis hemimelica. (17527110)
2007
15
Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. (17490719)
2007
16
Best cases from the AFIP: dysplasia epiphysealis hemimelica of the patella. (16549618)
2006
17
Dysplasia epiphysealis hemimelica of the talus: two case reports. (15872407)
2005
18
Evaluation, imaging, histology and operative treatment for dysplasia epiphysealis hemimelica (Trevor disease) of the acetabulum: a case report and review. (16089075)
2005
19
Dysplasia epiphysealis hemimelica of the carpus. (15766442)
2005
20
Early loss of hip containment in a child with dysplasia epiphysealis hemimelica. (15552160)
2004
21
A case of osteocartilaginous mass involving the coronoid process of the ulna: solitary osteochondroma or dysplasia epiphysealis hemimelica? (14564279)
2003
22
Wedge excision chondroplasty of the knee in dysplasia epiphysealis hemimelica--report of 2 cases. (12807335)
2003
23
Limb-lengthening and angular correction for dysplasia epiphysealis hemimelica. (11479766)
2001
24
Dysplasia epiphysealis hemimelica with carpal instability. (9665543)
1998
25
Dysplasia epiphysealis hemimelica (Trevor's disease) of the distal radius. (9586260)
1998
26
Dysplasia epiphysealis hemimelica (Trevor's disease) of the distal radius. (9828487)
1998
27
Dysplasia epiphysealis hemimelica of the sacroiliac joint: a case report. (8981897)
1996
28
MRI findings of dysplasia epiphysealis hemimelica. (8599001)
1996
29
Dysplasia epiphysealis hemimelica. Upper limb involvement with associated osteochondroma. (7924021)
1994
30
Radiologic case study. Trevor disease: dysplasia epiphysealis hemimelica. (7937381)
1994
31
A hamartomatous joint mimicking dysplasia epiphysealis hemimelica of the talus. (7719771)
1994
32
Dysplasia epiphysealis hemimelica--three different types in the ankle joint. (3358672)
1988
33
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
34
Dysplasia epiphysealis hemimelica at the metacarpophalangeal joint. (3225418)
1988
35
Asymmetric dysplasia epiphysealis hemimelica. (3399447)
1988
36
Dysplasia epiphysealis hemimelica of the ulna. (3567472)
1987
37
Dysplasia epiphysealis hemimelica of the ulna. (3792397)
1986
38
Mixed sclerosing bone dysplasia coexisting with dysplasia epiphysealis hemimelica (Trevor-Fairbank disease). (3764472)
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
Dysplasia epiphysealis hemimelica. (A review of 19 cases). (6432738)
1984
42
Dysplasia epiphysealis hemimelica. (6863838)
1983
43
Dysplasia epiphysealis hemimelica. Clinical, histological and histochemical features. (6411654)
1983
44
A unique case of dysplasia epiphysealis hemimelica of the patella. (7285421)
1981
45
Dysplasia epiphysealis hemimelica of the scapula. A case report. (7358760)
1980
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Dysplasia Epiphysealis Hemimelica

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24HMDB, 45Novoseek
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Compounds related to Dysplasia Epiphysealis Hemimelica according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Uridine diphosphate-N-acetylglucosamine249.1EXT1, EXT2
2arginine459.1EXT1, EXT2
3Uridine 5'-diphosphate249.0EXT1, EXT2
4heparan sulfate45 249.8EXT1, EXT2

GO Terms for genes affiliated with Dysplasia Epiphysealis Hemimelica

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16Gene Ontology
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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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Sources for Dysplasia Epiphysealis Hemimelica

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet