MCID: DYS048
MIFTS: 36

Dysplasia Epiphysealis Hemimelica malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Dysplasia Epiphysealis Hemimelica

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Dysplasia Epiphysealis Hemimelica:

Name: Dysplasia Epiphysealis Hemimelica 45 51 65
 
Trevor Disease 45 51

Characteristics:

Orphanet epidemiological data:

51
dysplasia epiphysealis hemimelica:
Inheritance: Autosomal dominant

Classifications:



External Ids:

Orphanet51 1822
ICD10 via Orphanet28 Q74.8
MESH via Orphanet37 C537997
UMLS via Orphanet66 C0432282
UMLS65 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 carpotarsal osteochondromatosis and schizophrenia, and has symptoms including exostoses, asymmetric growth and tarsal synostosis. An important gene associated with Dysplasia Epiphysealis Hemimelica is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways are Glycosaminoglycan metabolism and heparan sulfate biosynthesis. Affiliated tissues include bone, liver and monocytes.

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 exostoses hallmark (90%) HP:0100777
2 asymmetric growth hallmark (90%) HP:0100555
3 tarsal synostosis hallmark (90%) HP:0008368
4 abnormality of epiphysis morphology hallmark (90%) HP:0005930
5 accelerated skeletal maturation hallmark (90%) HP:0005616
6 osteoarthritis hallmark (90%) HP:0002758
7 bone pain hallmark (90%) HP:0002653
8 pes planus hallmark (90%) HP:0001763
9 limitation of joint mobility hallmark (90%) HP:0001376
10 genu varum typical (50%) HP:0002970
11 genu valgum typical (50%) HP:0002857
12 abnormality of the femur occasional (7.5%) HP:0002823
13 recurrent fractures occasional (7.5%) HP:0002757
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, Liver, Monocytes, B cells, Endothelial, T cells, Nk cells

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 118)
idTitleAuthorsYear
1
Electrocardiogram in a patient with "acute intermittent porphyria"-triggered Takotsubo syndrome. (26896614)
2016
2
Aortic tear and dissection related to connective tissues abnormalities resembling Marfan syndrome in a Great Dane. (25890485)
2015
3
Abnormal heart rate recovery and deficient chronotropic response after submaximal exercise in young Marfan syndrome patients. (26521836)
2015
4
Pleomorphic adenoma of lateral nasal wall presenting with epiphora. (23914647)
2013
5
The impact of psoriasis on work-related problems: a multicenter cross-sectional survey. (23962152)
2013
6
High case fatality cholera outbreak in Western Kenya, August 2010. (24244795)
2013
7
MicroRNA-211 expression promotes colorectal cancer cell growth in vitro and in vivo by targeting tumor suppressor CHD5. (22235338)
2012
8
Lipid dynamics and protein-lipid interactions in 2D crystals formed with the I^-barrel integral membrane protein VDAC1. (22435461)
2012
9
HER3 overexpression is a prognostic indicator of extrahepatic cholangiocarcinoma. (23052372)
2012
10
Seronegative rheumatoid arthritis: a rare cause of effusive-constrictive pericarditis requiring pericardiectomy. (22235002)
2012
11
Novel insights into the development of atherosclerosis in hemophilia A mouse models. (21692978)
2011
12
Prodromal symptoms in adolescents with 22q11.2 deletion syndrome and schizotypal personality disorder. (21507614)
2011
13
The development of drugs for treatment of sleeping sickness: a historical review. (20219092)
2010
14
Inhibition of HIV-1 replication by small interfering RNAs directed against glioma pathogenesis related protein (GliPR) expression. (20356381)
2010
15
Ropivacaine for topical anesthesia in pterygium surgery with fibrin glue for conjunctival autograft. (20164749)
2010
16
Markers of endothelial dysfunction in older subjects with late onset Alzheimer's disease or vascular dementia. (18597785)
2008
17
Musclin gene expression is strongly related to fast-glycolytic phenotype. (17189616)
2007
18
Transcriptional profiling suggests that secondary and primary large B-cell lymphomas of the gastrointestinal (GI) tract are blastic variants of GI marginal zone lymphoma. (17152084)
2007
19
Novel ELISA system for detection of N-ERC/mesothelin in the sera of mesothelioma patients. (16776777)
2006
20
Differences in perception of dysentery and enteric fever and willingness to receive vaccines among rural residents in China. (16159688)
2006
21
Interventions for infantile esotropia. (15674970)
2005
22
Hearing loss in patients with enlarged vestibular aqueduct: air-bone gap and audiological Bing test. (16149241)
2005
23
The Fem1a gene is downregulated in Rhabdomyosarcoma. (16254458)
2005
24
Generation of hydrogen peroxide primarily contributes to the induction of Fe(II)-dependent apoptosis in Jurkat cells by (-)-epigallocatechin gallate. (15090467)
2004
25
Partial trisomy 13 with features similar to C syndrome. (15235171)
2004
26
Transplants from balding and hairy androgenetic alopecia scalp regrow hair comparably well on immunodeficient mice. (12734505)
2003
27
Presentations of Meckel's diverticulum at Khyber Teaching Hospital Peshawar. (14727336)
2003
28
Dopamine mediation of positive reinforcing effects of amphetamine in stimulant naA^ve healthy volunteers: results from a large cohort. (14636962)
2003
29
Increased serum thymidine kinase activity in acute sarcoidosis. (11868600)
2002
30
Hyperinsulinemia and hemostatic abnormalities are associated with silent lacunar cerebral infarcts in elderly hypertensive subjects. (11693764)
2001
31
Adrenal ganglioneuroma: a familial case. (10962331)
2000
32
Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. (11032856)
2000
33
1,3-butadiene: cancer, mutations, and adducts. Part II: Roles of two metabolites of 1,3-butadiene in mediating its in vivo genotoxicity. (10925839)
2000
34
Time to treatment and cost of thrombolysis: a multicenter comparison of tPA and rPA. (10728031)
2000
35
Phase II study of a combination of low-dose cisplatin with 13-cis-retinoic acid and interferon-alpha in patients with advanced head and neck squamous cell carcinoma. (10378671)
1999
36
IL-12-induced up-regulation of NKRP1A expression in human NK cells and consequent NKRP1A-mediated down-regulation of NK cell activation. (9603467)
1998
37
Beta-2 adrenoceptor genetic variation is associated with genetic predisposition to essential hypertension: The Bergen Blood Pressure Study. (9607174)
1998
38
Predicting disease progression in childhood cerebellar astrocytoma. (9840364)
1998
39
Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activity. (9359043)
1997
40
Cardiac troponin T is elevated in asymptomatic patients with chronic renal failure. (8701920)
1996
41
Elimination diet in the treatment of selected patients with hypersensitivity vasculitis. (1505105)
1992
42
Purification and characterization of a phosphatidylinositol 3-kinase complex from bovine brain by using phosphopeptide affinity columns. (1281404)
1992
43
The effects of various peptides on human isolated gut muscle. (1361559)
1992
44
Charles Bonnet syndrome. (1868428)
1991
45
Dexamethasone-treated ROS 17/2.8 rat osteosarcoma cells are responsive to human carboxylterminal parathyroid hormone peptide hPTH (53-84): stimulation of alkaline phosphatase. (1913291)
1991
46
Discoid lupus erythematosus scarring and dermabrasion: a case report and discussion. (2312817)
1990
47
The view box. Pharyngeal (Zenker's) diverticulum and aspiration pneumonia. (4627662)
1972
48
Choice of operation for the toxic megacolon phase of nonspecific ulcerative colitis. (4918890)
1970
49
Reduction of glutamic pyruvic transaminase in pyridoxine deficiency in liver disease. (5902945)
1966
50
A yaws campaign in Sierra Leone. (18117639)
1949

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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GO Terms for genes affiliated with Dysplasia Epiphysealis Hemimelica

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Biological processes related to Dysplasia Epiphysealis Hemimelica according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan biosynthetic processGO:00060249.7EXT1, EXT2
2protein glycosylationGO:00064869.5EXT1, EXT2
3carbohydrate metabolic processGO:00059759.5EXT1, EXT2
4ossificationGO:00015039.4EXT1, EXT2
5small molecule metabolic processGO:00442819.1EXT1, EXT2

Molecular functions related to Dysplasia Epiphysealis Hemimelica according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:00505099.7EXT1, EXT2
2heparan sulfate N-acetylglucosaminyltransferase activityGO:00423289.7EXT1, EXT2
3acetylglucosaminyltransferase activityGO:00083759.7EXT1, EXT2
4glucuronosyltransferase activityGO:00150209.4EXT1, EXT2
5protein homodimerization activityGO:00428039.1EXT1, 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