MCID: DYS048
MIFTS: 31

Dysplasia Epiphysealis Hemimelica malady

Bone diseases, Fetal diseases categories

Summaries for Dysplasia Epiphysealis Hemimelica

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Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Dysplasia Epiphysealis Hemimelica, also known as trevor disease, is related to carpotarsal osteochondromatosis and syndactyly, 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 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. Affiliated tissues include bone.

Wikipedia:63 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, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
dysplasia epiphysealis hemimelica:
Inheritance: Autosomal dominant


Aliases & Descriptions:

dysplasia epiphysealis hemimelica 42 48 46
trevor disease 42 48


External Ids:

OMIM46 127800
MESH via Orphanet35 C537997
ICD10 via Orphanet26 Q74.8
SNOMED-CT via Orphanet57 205480005
UMLS via Orphanet61 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 17)
idRelated DiseaseScoreTop Affiliating Genes
1carpotarsal osteochondromatosis10.5
2syndactyly10.4
3polydactyly10.4
4juvenile rheumatoid arthritis10.4
5arthritis10.4
6chondroma10.4
7rheumatoid arthritis10.4
8osteosarcoma10.0EXT1
9hereditary multiple osteochondromas10.0EXT1, EXT2
10hereditary multiple exostoses10.0EXT1, EXT2
11osteochondroma10.0EXT1, EXT2
12ollier disease10.0EXT1, EXT2
13exostosis10.0EXT2, EXT1
14bone carcinoma10.0EXT1, EXT2
15autosomal dominant disease10.0EXT1, EXT2
16secondary syphilis10.0EXT1, EXT2
17chondrosarcoma10.0EXT1, EXT2

Graphical network of diseases related to Dysplasia Epiphysealis Hemimelica:



Diseases related to dysplasia epiphysealis hemimelica

Clinical Features for Dysplasia Epiphysealis Hemimelica

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

127800

Clinical synopsis from OMIM:

127800

Symptoms:

48 (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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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Dysplasia Epiphysealis Hemimelica

Drug clinical trials:

Search ClinicalTrials for Dysplasia Epiphysealis Hemimelica

Search NIH Clinical Center for Dysplasia Epiphysealis Hemimelica

Search CenterWatch for Dysplasia Epiphysealis Hemimelica

Genetic Tests for Dysplasia Epiphysealis Hemimelica

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Anatomical Context for Dysplasia Epiphysealis Hemimelica

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32MalaCards
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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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Genetic Variations for Dysplasia Epiphysealis Hemimelica

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Expression for genes affiliated with Dysplasia Epiphysealis Hemimelica

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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

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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Dysplasia Epiphysealis Hemimelica

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Sources:
44Novoseek, 24HMDB
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Compounds related to Dysplasia Epiphysealis Hemimelica according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine449.1EXT2, EXT1
2heparan sulfate44 249.8EXT2, EXT1

GO Terms for genes affiliated with Dysplasia Epiphysealis Hemimelica

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Sources:
16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet