MCID: MLT007
MIFTS: 54

Multiple Epiphyseal Dysplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Multiple Epiphyseal Dysplasia

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Aliases & Descriptions for Multiple Epiphyseal Dysplasia:

Name: Multiple Epiphyseal Dysplasia 10 45 23 47 12 65
Epiphyseal Dysplasia, Multiple, 3 23 65
Epiphyseal Dysplasia, Multiple, 4 23 65
Epiphyseal Dysplasia, Multiple, 2 23 65
Epiphyseal Dysplasia, Multiple, 1 23 65
Epiphyseal Dysplasia, Multiple, 5 23 65
Epiphyseal Dysplasia, Multiple 45 24
Med 45 23
Multiple Epiphyseal Dysplasia, Autosomal Recessive 23
Multiple Epiphyseal Dysplasia, Autosomal Dominant 23
Epiphyseal Dysplasia, Fairbank Type 23
 
Epiphyseal Dysplasia, Ribbing Type 23
Polyepiphyseal Dysplasia 10
Osteochondrodysplasias 36
Edm1 23
Edm4 23
Edm2 23
Edm5 23
Edm3 23
Rmed 23
Edm 45

Classifications:



External Ids:

Disease Ontology10 DOID:12721
ICD9CM29 756.56
SNOMED-CT59 205504001, 59708000
MeSH36 D010009
UMLS65 C0026760, C1838280, C1838429 C1832998, C1847593, C1846843, more

Summaries for Multiple Epiphyseal Dysplasia

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NIH Rare Diseases:45 Multiple epiphyseal dysplasia (med) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). there are two types of med, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. signs and symptoms may include joint pain in the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. recessive med may also cause malformations of the hands, feet, and knees; scoliosis; or other abnormalities. most people are diagnosed during childhood, but mild cases may not be diagnosed until adulthood. dominant med is caused by mutations in the comp, col9a1, col9a2, col9a3, or matn3 genes (or can be of unknown cause), and recessive med is caused by mutations in the slc26a2 gene. last updated: 6/3/2015

MalaCards based summary: Multiple Epiphyseal Dysplasia, also known as epiphyseal dysplasia, multiple, 3, is related to epiphyseal dysplasia, multiple, 1 and macrocephaly with multiple epiphyseal dysplasia and distinctive facies, and has symptoms including round face, sensorineural hearing impairment and anteverted nares. An important gene associated with Multiple Epiphyseal Dysplasia is MATN3 (Matrilin 3), and among its related pathways are Gastric cancer network 2 and Endochondral Ossification. Affiliated tissues include hip or, bone and t cells, and related mouse phenotypes are limbs/digits/tail and skeleton.

Disease Ontology:10 An osteochondrodysplasia that has material basis in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.

Genetics Home Reference:23 Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood.

Wikipedia:68 Fairbank\'s disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant... more...

Related Diseases for Multiple Epiphyseal Dysplasia

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Diseases in the Multiple Epiphyseal Dysplasia family:

Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 5
Epiphyseal Dysplasia, Multiple, 4 Epiphyseal Dysplasia, Multiple, 6
Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 3
Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia, Recessive
Localized Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia, Dominant
Col9a1-Related Multiple Epiphyseal Dysplasia Col9a2-Related Multiple Epiphyseal Dysplasia
Col9a3-Related Multiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

Diseases related to Multiple Epiphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 221)
idRelated DiseaseScoreTop Affiliating Genes
1epiphyseal dysplasia, multiple, 130.7ACAN, COL2A1, COL9A1, COL9A2, COL9A3, COMP
2macrocephaly with multiple epiphyseal dysplasia and distinctive facies12.7
3osteochondrodysplasia12.6
4hypertrichotic osteochondrodysplasia12.6
5multiple epiphyseal dysplasia, recessive12.5
6multiple epiphyseal dysplasia, dominant12.5
7col9a1-related multiple epiphyseal dysplasia12.5
8col9a2-related multiple epiphyseal dysplasia12.5
9col9a3-related multiple epiphyseal dysplasia12.5
10multiple epiphyseal dysplasia, al-gazali type12.5
11multiple epiphyseal dysplasia, beighton type12.5
12multiple epiphyseal dysplasia, lowry type12.5
13multiple epiphyseal dysplasia, autosomal dominant12.5
14multiple epiphyseal dysplasia, with miniepiphyses12.5
15multiple epiphyseal dysplasia, with severe proximal femoral dysplasia12.5
16multiple epiphyseal dysplasia due to collagen 9 anomaly12.5
17epiphyseal dysplasia, multiple, 412.3
18sulfate transporter-related osteochondrodysplasia12.3
19hypertrichotic osteochondrodysplasia, cantu type12.3
20epiphyseal dysplasia, multiple, 512.2
21epiphyseal dysplasia, multiple, with myopia and deafness12.0
22epiphyseal dysplasia, multiple, 312.0
23skeletal dysplasias11.9
24epiphyseal dysplasia, multiple, 211.9
25epiphyseal dysplasia, multiple, 611.9
26fairbank disease11.8
27chondrodysplasia, blomstrand type11.8
28wolcott-rallison syndrome11.7
29microcephaly, epilepsy, and diabetes syndrome11.7
30faye-petersen-ward-carey syndrome11.6
31desbuquois dysplasia10.8
32smith-mccort dysplasia10.8
33craniometaphyseal dysplasia10.8
34diastrophic dysplasia10.8
35pseudoachondroplasia10.8
36thanatophoric dysplasia, type i10.8
37refsum disease10.4
38mucopolysaccharidosis iva10.4
39aneurysm10.4
40hepatitis10.3
41cerebritis10.3
42asthma10.3
43acute diarrhea10.3
44diarrhea10.3
45prostatitis10.3
46pneumonia10.3
47cerebral aneurysms10.3
48endotheliitis10.3
49opiate dependence10.2ACAN, COMP
50vulvar melanoma10.1ACAN, COMP

Graphical network of the top 20 diseases related to Multiple Epiphyseal Dysplasia:



Diseases related to multiple epiphyseal dysplasia

Symptoms for Multiple Epiphyseal Dysplasia

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Symptoms:

 10
  • fatigue
  • joint pain

HPO human phenotypes related to Multiple Epiphyseal Dysplasia:

(show all 23)
id Description Frequency HPO Source Accession
1 round face hallmark (90%) HP:0000311
2 sensorineural hearing impairment hallmark (90%) HP:0000407
3 anteverted nares hallmark (90%) HP:0000463
4 myopia hallmark (90%) HP:0000545
5 abnormality of the metaphyses hallmark (90%) HP:0000944
6 brachydactyly syndrome hallmark (90%) HP:0001156
7 limitation of joint mobility hallmark (90%) HP:0001376
8 delayed skeletal maturation hallmark (90%) HP:0002750
9 abnormality of the ulna hallmark (90%) HP:0002997
10 abnormality of the wrist hallmark (90%) HP:0003019
11 abnormal cortical bone morphology hallmark (90%) HP:0003103
12 short palm hallmark (90%) HP:0004279
13 abnormality of epiphysis morphology hallmark (90%) HP:0005930
14 tarsal synostosis hallmark (90%) HP:0008368
15 aplasia/hypoplasia of the sacrum hallmark (90%) HP:0008517
16 rough bone trabeculation hallmark (90%) HP:0100670
17 malar flattening typical (50%) HP:0000272
18 abnormality of the femur typical (50%) HP:0002823
19 abnormal form of the vertebral bodies typical (50%) HP:0003312
20 short stature typical (50%) HP:0004322
21 anonychia occasional (7.5%) HP:0001798
22 micromelia occasional (7.5%) HP:0002983
23 abnormality of the hip bone occasional (7.5%) HP:0003272

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip DiseaseCompletedNCT01707433

Search NIH Clinical Center for Multiple Epiphyseal Dysplasia


Cochrane evidence based reviews: osteochondrodysplasias

Genetic Tests for Multiple Epiphyseal Dysplasia

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Anatomical Context for Multiple Epiphyseal Dysplasia

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MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia:

33
Bone, T cells, Breast, Endothelial, Heart, Kidney, Testis

FMA organs/tissues related to Multiple Epiphyseal Dysplasia:

16
Hip or

Animal Models for Multiple Epiphyseal Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053717.4COL2A1, COL9A1, COL9A2, COMP, MATN3, SLC26A2
2MP:00053907.3COL2A1, COL9A1, COL9A2, COMP, MATN3, SLC26A2

Publications for Multiple Epiphyseal Dysplasia

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Articles related to Multiple Epiphyseal Dysplasia:

(show top 50)    (show all 164)
idTitleAuthorsYear
1
Diffuse Alveolar Hemorrhage Associated With Low Molecular Weight Heparin and Dual Anti-platelet Therapy After Percutaneous Coronary Intervention. (26784680)
2016
2
Expression of MiR200a, miR93, metastasis-related gene RECK and MMP2/MMP9 in human cervical carcinoma--relationship with prognosis. (23679328)
2013
3
Localized depigmentation on genital melanosis: a clue for the understanding of vitiligo. (22897568)
2013
4
A single conformational transglutaminase 2 epitope contributed by three domains is critical for celiac antibody binding and effects. (22198767)
2012
5
Association analysis of -429T/C and -374T/A polymorphisms of receptor of advanced glycation end products (RAGE) gene in Malaysian with type 2 diabetic retinopathy. (22154374)
2012
6
Infections and inflammatory diseases as risk factors for venous thrombosis. A systematic review. (22437808)
2012
7
Physiologic implications of metal-ion transport by ZIP14 and ZIP8. (22318508)
2012
8
Genetic architecture for susceptibility to gout in the KARE cohort study. (22513714)
2012
9
Long pentraxin 3/tumor necrosis factor-stimulated gene-6 interaction: a biological rheostat for fibroblast growth factor 2-mediated angiogenesis. (22267482)
2012
10
Benign fibrous histiocytoma of bone in a paediatric population: a report of 6 cases. (21409501)
2011
11
CLC-3 spices up GABAergic synaptic vesicles. (21445064)
2011
12
Correlations among Helicobacter pylori infection and the expression of cyclooxygenase-2 and vascular endothelial growth factor in gastric mucosa with intestinal metaplasia or dysplasia. (20492336)
2010
13
Development of primary superficial venous insufficiency: the ascending theory. Observational and hemodynamic data from a 9-year experience. (20638616)
2010
14
Identification of a null allele of cytochrome P450 3A7: CYP3A7 polymorphism in a Korean population. (19585271)
2010
15
CR1 genotype and haplotype involvement in coronary artery disease: the pivotal role of hypertension and dyslipidemia. (19578791)
2009
16
Correlative gene expression and DNA methylation profiling in lung development nominate new biomarkers in lung cancer. (18203646)
2008
17
Effectiveness and tolerability of olanzapine in the treatment of adolescents with schizophrenia and related psychotic disorders: results from a large, prospective, open-label study. (18294089)
2008
18
ATP-sensitive potassium channels mediate survival during infection in mammals and insects. (18026101)
2007
19
Proteolytic processing of proNGF is necessary for mature NGF regulated secretion from neurons. (17673176)
2007
20
Expression of circulating leucocytes before, during and after myiasis by Dermatobia hominis in experimentally infected rats. (18026634)
2007
21
N-glycan alterations are associated with drug resistance in human hepatocellular carcinoma. (17488527)
2007
22
The paraventricular nucleus of the thalamus as an interface between the orexin and CART peptides and the shell of the nucleus accumbens. (16565962)
2006
23
Genomic expression patterns of mitral valve tissues from dogs with degenerative mitral valve disease. (16881841)
2006
24
Recent developments in Miller Fisher syndrome and related disorders. (16155441)
2005
25
Asparagine-473 residue is important to the efficient function of human dihydrolipoamide dehydrogenase. (15826505)
2005
26
Functional consequences of ATM sequence variants for chromosomal radiosensitivity. (15101044)
2004
27
Inhibitors of 3-hydroxy-3-methylglutaryl-CoA reductase reduce receptor-mediated endocytosis in opossum kidney cells. (15339975)
2004
28
Characteristics of EPI-hNE4 aerosol: a new elastase inhibitor for treatment of cystic fibrosis. (12823906)
2003
29
Survey of naturally occurring CD4+ T cell responses against NY-ESO-1 in cancer patients: correlation with antibody responses. (12853579)
2003
30
Fluorescent indicators for Akt/protein kinase B and dynamics of Akt activity visualized in living cells. (12773546)
2003
31
Dioxolane guanosine, the active form of the prodrug diaminopurine dioxolane, is a potent inhibitor of drug-resistant HIV-1 isolates from patients for whom standard nucleoside therapy fails. (11782585)
2002
32
Adaptor protein Shc is an isoform-specific direct activator of the tyrosine kinase c-Src. (12048194)
2002
33
Comparison of interleukin-6 and C-reactive protein serum concentrations assessment in diagnosis of infective endocarditis]. (12642938)
2002
34
A clinical, microbiologic, and radiographic study of deep caries lesions after incomplete caries removal. (11890029)
2002
35
Inhibition of Bcl-xL expression sensitizes T-cell acute lymphoblastic leukemia cells to chemotherapeutic drugs. (11792421)
2002
36
Multifocal chorioretinal atrophy associated with herpes zoster ophthalmicus. (11778816)
2001
37
Structural basis for substrate specificities of cellular deoxyribonucleoside kinases. (11427893)
2001
38
Nucleotide-binding domain 1 of cystic fibrosis transmembrane conductance regulator production of a suitable protein for structural studies. (10951189)
2000
39
Identification of osteopontin as a novel ligand for the integrin alpha8 beta1 and potential roles for this integrin-ligand interaction in kidney morphogenesis. (9614184)
1998
40
Haemostatic parameters in patients with primitive venous hypertension. (9230618)
1997
41
The responses of leukemia cells to interleukin-2 in vitro]. (10683932)
1997
42
Role of phosphorylation on DNA binding and transcriptional functions of human progesterone receptors. (8662865)
1996
43
Insulin-like growth factor binding protein 3 mediates retinoic acid- and transforming growth factor beta2-induced growth inhibition in human breast cancer cells. (8603400)
1996
44
Successful pregnancy in the DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness). (7771984)
1995
45
Value of laparoscopy in trauma ICU patients with suspected acute acalculous cholecystitis. (8073348)
1994
46
Lupus autoantigen Ku protein binds HIV-1 TAR RNA in vitro. (8240370)
1993
47
Recurred Castleman's disease containing a fibrohistiocytic nodular lesion with vascular occlusion. (8291449)
1993
48
A mitochondrial encephalomyopathy with cardiomyopathy. A case revealing a defect of complex I in the respiratory chain. (3106581)
1987
49
Cercarial dermatitis among bathers in California; katayama syndrome among travelers to Ethiopia. (6815455)
1982
50
Cerebral hemangioblastoma occurring in a patient with von Hippel-Lindau disease. Case report. (5643929)
1968

Variations for Multiple Epiphyseal Dysplasia

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Clinvar genetic disease variations for Multiple Epiphyseal Dysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MATN3NM_002381.4(MATN3): c.209G> A (p.Arg70His)single nucleotide variantPathogenicrs104893640GRCh37Chr 2, 20212184: 20212184

Expression for genes affiliated with Multiple Epiphyseal Dysplasia

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Search GEO for disease gene expression data for Multiple Epiphyseal Dysplasia.

Pathways for genes affiliated with Multiple Epiphyseal Dysplasia

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Pathways related to Multiple Epiphyseal Dysplasia according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.4COL9A1, COL9A3
29.1ACAN, COL2A1
39.0COL9A1, COL9A2, COL9A3
48.8ACAN, COL2A1, COMP
58.2COL2A1, COL9A1, COL9A2, COL9A3
6
Show member pathways
8.2COL2A1, COL9A1, COL9A2, COL9A3
7
Show member pathways
7.8COL2A1, COL9A1, COL9A2, COL9A3, COMP
8
Show member pathways
7.8COL2A1, COL9A1, COL9A2, COL9A3, COMP
97.8COL2A1, COL9A1, COL9A2, COL9A3, COMP
107.7ACAN, COL9A1, COL9A2, COL9A3, COMP, MATN3
11
Show member pathways
7.6ACAN, COL2A1, COL9A1, COL9A2, COL9A3
12
Show member pathways
7.6ACAN, COL2A1, COL9A1, COL9A2, COL9A3
13
Show member pathways
6.9ACAN, COL2A1, COL9A1, COL9A2, COL9A3, COMP

GO Terms for genes affiliated with Multiple Epiphyseal Dysplasia

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Cellular components related to Multiple Epiphyseal Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type IX trimerGO:00055949.0COL9A1, COL9A2, COL9A3

Biological processes related to Multiple Epiphyseal Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen fibril organizationGO:00301999.6ACAN, COL2A1
2skeletal system developmentGO:00015019.4COL2A1, COL9A2
3ossificationGO:00015039.4COL2A1, SLC26A2
4chondrocyte differentiationGO:00020629.3COL2A1, COL9A1
5collagen catabolic processGO:00305748.5COL2A1, COL9A1, COL9A3
6extracellular matrix disassemblyGO:00226177.6ACAN, COL2A1, COL9A1, COL9A2, COL9A3

Sources for Multiple Epiphyseal Dysplasia

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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