MCID: DYS048
MIFTS: 34

Dysplasia Epiphysealis Hemimelica malady

Bone, Fetal categories

Summaries for Dysplasia Epiphysealis Hemimelica

Sources:
43NIH Rare Diseases, 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 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 MPS IIIC - Sanfilippo syndrome C and Heparan sulfate/heparin (HS-GAG) metabolism. The compounds arginine and heparan sulfate have been mentioned in the context of this disorder.

Description from OMIM:47 127800

Aliases & Classifications for Dysplasia Epiphysealis Hemimelica

Sources:
43NIH Rare Diseases, 49Orphanet, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


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 Orphanet58 205480005
UMLS via Orphanet62 C0432282

Related Diseases for Dysplasia Epiphysealis Hemimelica

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Dysplasia Epiphysealis Hemimelica:



Diseases related to dysplasia epiphysealis hemimelica

Clinical Features for Dysplasia Epiphysealis Hemimelica

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

127800

Clinical synopsis from OMIM:

127800

Symptoms:

49 (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

Drugs & Therapeutics for Dysplasia Epiphysealis Hemimelica

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Dysplasia Epiphysealis Hemimelica

Drug clinical trials:

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Search NIH Clinical Center for Dysplasia Epiphysealis Hemimelica

Search CenterWatch for Dysplasia Epiphysealis Hemimelica

Genetic Tests for Dysplasia Epiphysealis Hemimelica

Anatomical Context for Dysplasia Epiphysealis Hemimelica

Animal Models for Dysplasia Epiphysealis Hemimelica or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Dysplasia Epiphysealis Hemimelica

Sources:
51PubMed
See all sources

Articles related to Dysplasia Epiphysealis Hemimelica:

(show top 50)    (show all 105)
idTitleAuthorsYear
1
A rare case of Trevor's disease (dysplasia epiphysealis hemimelica) in the elbow. (23206405)
2013
2
Bilateral dysplasia epiphysealis hemimelica of the talus associated with a lower leg intramuscular cartilaginous mass. (21965143)
2012
3
Dysplasia epiphysealis hemimelica of the ankle joint: a case report. (21857058)
2011
4
Trevor's disease (dysplasia epiphysealis hemimelica) located at the hand: case report and review of the literature. (21236611)
2011
5
Dysplasia epiphysealis hemimelica of the elbow. (20539242)
2011
6
Dysplasia epiphysealis hemimelica: a case report. (21809611)
2010
7
Dysplasia epiphysealis hemimelica: radiographic and magnetic resonance imaging features and clinical outcome of complete and incomplete resection. (19813010)
2010
8
Dysplasia epiphysealis hemimelica of the distal ulna: a case report and review of the literature. (19541588)
2009
9
Dysplasia epiphysealis hemimelica: a case report with novel pathophysiologic aspects. (19526273)
2009
10
Dysplasia epiphysealis hemimelica with involvement of the hip and spine in a young girl. (18591609)
2008
11
Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement. (18810433)
2008
12
Dysplasia epiphysealis hemimelica: two cases in two different regional expression. (17762680)
2007
13
Trevor's disease: the clinical manifestations and treatment of dysplasia epiphysealis hemimelica. (17527110)
2007
14
Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones. (17490719)
2007
15
Dysplasia epiphysealis hemimelica with associated osteochondral lesion of the talus: a case report and review of the literature. (17592704)
2007
16
Dysplasia epiphysealis hemimelica of the talus: two case reports. (15872407)
2005
17
Evaluation, imaging, histology and operative treatment for dysplasia epiphysealis hemimelica (Trevor disease) of the acetabulum: a case report and review. (16089075)
2005
18
Dysplasia epiphysealis hemimelica of the carpus. (15766442)
2005
19
Dysplasia epiphysealis hemimelica (Trevor's disease) of the acetabulum. (15843949)
2005
20
Dysplasia epiphysealis hemimelica of the hand: two cases at the proximal interphalangeal joint. (15552559)
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
Dysplasia epiphysealis hemimelica in a Boxer puppy. (12502105)
2002
24
Scintigraphic findings of dysplasia epiphysealis hemimelica: a case report. (11201484)
2001
25
Dysplasia epiphysealis hemimelica of the acetabulum. A report of two cases. (10724233)
2000
26
Dysplasia epiphysealis hemimelica of the proximal tibia showing epiphyseal osteochondroma in an adult. (10506910)
1999
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: clinical features and management. (9661870)
1998
31
MRI appearances of dysplasia epiphysealis hemimelica of the knee. (9151371)
1997
32
MRI findings of dysplasia epiphysealis hemimelica. (8599001)
1996
33
Dysplasia epiphysealis hemimelica of the radius. (8681686)
1995
34
A hamartomatous joint mimicking dysplasia epiphysealis hemimelica of the talus. (7719771)
1994
35
Dysplasia epiphysealis hemimelica affecting the subtalar joint. (7807388)
1994
36
A case of bilateral dysplasia epiphysealis hemimelica associated with polydactyly and syndactyly. (8222443)
1993
37
Podiatric imaging quiz. Dysplasia epiphysealis hemimelica or Trevor's disease. (1401744)
1992
38
Dysplasia epiphysealis hemimelica (Trevor disease) presenting as peroneal spastic flatfoot deformity: a case report. (1959837)
1991
39
Dysplasia epiphysealis hemimelica. (2692175)
1989
40
Dysplasia epiphysealis hemimelica at the metacarpophalangeal joint. (3225418)
1988
41
Dysplasia epiphysealis hemimelica of the ulna. (3792397)
1986
42
Dysplasia epiphysealis hemimelica. (A review of 19 cases). (6432738)
1984
43
Dysplasia epiphysealis hemimelica. (6490890)
1984
44
Case report 262: dysplasia epiphysealis hemimelica (DEH)--Trevor disease. (6701551)
1984
45
A unique case of dysplasia epiphysealis hemimelica of the patella. (7285421)
1981
46
Dysplasia epiphysealis hemimelica. A case report. (1277650)
1976
47
Dysplasia epiphysealis hemimelica. (4770139)
1973
48
Dysplasia epiphysealis hemimelica: a case simulating an intra-articular body. (4625878)
1972
49
Dysplasia epiphysealis hemimelica. An unusual case combined with juvenile rheumatoid arthritis. (6078474)
1967
50
Dysplasia epiphysealis hemimelica. A report of fifteen cases and a review of the literature. (15580741)
1966

Genetic Variations for Dysplasia Epiphysealis Hemimelica

Expression for genes affiliated with Dysplasia Epiphysealis Hemimelica

Sources:
1BioGPS, 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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Dysplasia Epiphysealis Hemimelica

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

idCompoundScoreTop Affiliating Genes
1arginine459.1EXT2, EXT1
2heparan sulfate45 249.8EXT2, EXT1

GO Terms for genes affiliated with Dysplasia Epiphysealis Hemimelica

Sources:
16Gene Ontology
See all sources

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

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

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

(show all 8)
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:0150129.2EXT1, EXT2
4glycosaminoglycan biosynthetic processGO:0060249.2EXT1, EXT2
5ossificationGO:0015039.1EXT2, EXT1
6carbohydrate metabolic processGO:0059759.1EXT1, EXT2
7protein glycosylationGO:0064869.0EXT2, EXT1
8glycosaminoglycan metabolic processGO:0302038.8EXT2, EXT1

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

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

Products for genes affiliated with Dysplasia Epiphysealis Hemimelica

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dysplasia Epiphysealis Hemimelica

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet