MCID: MLT007
MIFTS: 53

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 cataract and epiphyseal dysplasia, multiple, 1, 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 liver, 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 94)
idRelated DiseaseScoreTop Affiliating Genes
1cataract29.1ACAN, COL2A1, COMP
2epiphyseal dysplasia, multiple, 128.7ACAN, COL2A1, COL9A1, COL9A2, COL9A3, COMP
3osteochondritis dissecans28.0ACAN, COL2A1, COL9A1, COMP, MATN3
4osteochondrodysplasia12.4
5macrocephaly with multiple epiphyseal dysplasia and distinctive facies12.3
6multiple epiphyseal dysplasia, recessive12.2
7multiple epiphyseal dysplasia, dominant12.2
8hypertrichotic osteochondrodysplasia12.2
9col9a1-related multiple epiphyseal dysplasia12.1
10col9a2-related multiple epiphyseal dysplasia12.1
11col9a3-related multiple epiphyseal dysplasia12.1
12multiple epiphyseal dysplasia, al-gazali type12.1
13multiple epiphyseal dysplasia, beighton type12.1
14multiple epiphyseal dysplasia, lowry type12.1
15multiple epiphyseal dysplasia, autosomal dominant12.1
16multiple epiphyseal dysplasia, with miniepiphyses12.1
17multiple epiphyseal dysplasia, with severe proximal femoral dysplasia12.1
18multiple epiphyseal dysplasia due to collagen 9 anomaly12.1
19epiphyseal dysplasia, multiple, 411.9
20sulfate transporter-related osteochondrodysplasia11.9
21hypertrichotic osteochondrodysplasia, cantu type11.9
22epiphyseal dysplasia, multiple, 511.8
23epiphyseal dysplasia, multiple, with myopia and deafness11.6
24epiphyseal dysplasia, multiple, 311.6
25skeletal dysplasias11.6
26epiphyseal dysplasia, multiple, 211.5
27epiphyseal dysplasia, multiple, 611.5
28fairbank disease11.4
29chondrodysplasia, blomstrand type11.4
30wolcott-rallison syndrome11.3
31microcephaly, epilepsy, and diabetes syndrome11.3
32faye-petersen-ward-carey syndrome11.2
33osteogenesis imperfecta10.7
34pseudoachondroplasia10.5
35opiate dependence10.3ACAN, COMP
36vulvar melanoma10.2ACAN, COMP
37myopathy10.1
38nut midline carcinoma10.1COMP, SLC26A2
39dengue disease10.1ACAN, COL9A3
40hypochondroplasia10.1ACAN, COMP
41refsum disease10.0
42mucopolysaccharidosis iva10.0
43intervertebral disc disease10.0COL9A2, COL9A3
44brachydactyly, type a1, c10.0COL2A1, COMP
45central nervous system chondroma10.0ACAN, COMP
46diastrophic dysplasia10.0
47osteoarthritis10.0
48lowry wood syndrome10.0
49diphtheritic cystitis10.0COL2A1, COL9A3
50familial atrial fibrillation9.9COL9A2, COMP, SLC26A2

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

UMLS symptoms related to Multiple Epiphyseal Dysplasia:


arthralgia, knee pain, hip pain

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, Liver, Skin, Breast, Endothelial, T cells, Prostate

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 167)
idTitleAuthorsYear
1
Tissue-engineered cartilage implantation for the chondral lesion in a patient with multiple epiphyseal dysplasia. (26740422)
2016
2
Bilateral Second Carpal Row Duplication Associated with Multiple Epiphyseal Dysplasia. (26649258)
2015
3
Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report. (25381065)
2014
4
Assessment of skeletal age in multiple epiphyseal dysplasia. (25210941)
2014
5
Multiple epiphyseal dysplasia. (24640208)
2013
6
Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia. (22948526)
2012
7
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. (21204225)
2011
8
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. (20358595)
2010
9
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. (20592910)
2010
10
Total hip replacement in patients with multiple epiphyseal dysplasia with a mean follow-up of 15 years and survival analysis. (20357323)
2010
11
Hemiepiphyseal stapling for angular deformity correction around the knee joint in children with multiple epiphyseal dysplasia. (19098647)
2009
12
Five patients in a Chinese family with multiple epiphyseal dysplasia. (19781400)
2009
13
Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia]. (18487141)
2008
14
What is your diagnosis? Multiple epiphyseal dysplasia. (19180712)
2008
15
An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia. (18338162)
2008
16
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. (18328978)
2008
17
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. (15503005)
2005
18
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. (15756302)
2005
19
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. (15459972)
2004
20
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. (11968079)
2002
21
Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes. (11528506)
2001
22
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. (10655510)
2000
23
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. (10465113)
1999
24
Double-layered patella in multiple epiphyseal dysplasia: a valuable clue in the diagnosis. (9449113)
1998
25
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. (9921895)
1998
26
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (8702126)
1996
27
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). (8528240)
1996
28
Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. (7942845)
1994
29
Multiple Epiphyseal Dysplasia, Recessive (20301483)
1993
30
Multiple Epiphyseal Dysplasia, Dominant (20301302)
1993
31
Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage. (8465858)
1993
32
Early diagnosis of multiple epiphyseal dysplasia. (1552030)
1992
33
A case of multiple epiphyseal dysplasia complicated by unilateral Perthes' disease. (1767660)
1991
34
Multiple epiphyseal dysplasia misdiagnosed as bioinactive growth hormone disorder. (1925729)
1991
35
Avascular necrosis of the hip in multiple epiphyseal dysplasia. (2600173)
1989
36
Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. (6409926)
1983
37
Findings at arthrotomy in a case of double layered patellae associated with multiple epiphyseal dysplasia. (7076836)
1982
38
Os trigonum syndrome in a patient with multiple epiphyseal dysplasia. (7186916)
1982
39
Bilateral femoral head collapse in an adolescent with brachydactyly (multiple epiphyseal dysplasia tarda type 1c). (7334105)
1981
40
Multiple epiphyseal dysplasia: a family study. (515629)
1979
41
Multiple epiphyseal dysplasia. (730283)
1978
42
Multiple epiphyseal dysplasia and Turner syndrome variant (45,XO/46,X ring) associated with advanced maternal age. (890113)
1977
43
Perthes' disease and multiple epiphyseal dysplasia. (917961)
1977
44
Probable multiple epiphyseal dysplasia. (4461073)
1974
45
Osteoarthrosis of the hip joints in multiple epiphyseal dysplasia. (4534821)
1974
46
Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. (5008828)
1972
47
Multiple epiphyseal dysplasia in a litter of Beagle puppies. (4994640)
1971
48
Multiple epiphyseal dysplasia: a report of three cases. (5151277)
1971
49
Multiple epiphyseal dysplasia. Three cases with unusual vertebral abnormalities. (5801124)
1969
50
Multiple epiphyseal dysplasia in two siblings. Histological and biochemical analyses of epiphyseal plate cartilage in one. (4229795)
1967

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