MCID: MLT007
MIFTS: 50

Multiple Epiphyseal Dysplasia malady

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

Aliases & Classifications for Multiple Epiphyseal Dysplasia

About this section

Aliases & Descriptions for Multiple Epiphyseal Dysplasia:

Name: Multiple Epiphyseal Dysplasia 11 46 24 13 48 66
Epiphyseal Dysplasia, Multiple, 1 24 66
Epiphyseal Dysplasia, Multiple, 5 24 66
Epiphyseal Dysplasia, Multiple, 3 24 66
Epiphyseal Dysplasia, Multiple, 2 24 66
Epiphyseal Dysplasia, Multiple, 4 24 66
Epiphyseal Dysplasia, Multiple 46 25
Med 46 24
Multiple Epiphyseal Dysplasia, Autosomal Recessive 24
Multiple Epiphyseal Dysplasia, Autosomal Dominant 24
Epiphyseal Dysplasia, Fairbank Type 24
 
Epiphyseal Dysplasia, Ribbing Type 24
Polyepiphyseal Dysplasia 11
Osteochondrodysplasias 37
Edm4 24
Edm5 24
Edm3 24
Edm2 24
Edm1 24
Rmed 24
Edm 46

Classifications:



External Ids:

Disease Ontology11 DOID:12721
ICD9CM30 756.56
SNOMED-CT60 205504001, 59708000
MeSH37 D010009

Summaries for Multiple Epiphyseal Dysplasia

About this section
NIH Rare Diseases:46 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, 1, is related to osteochondrodysplasia 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 COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways are Gastric cancer network 2 and Articular Cartilage Extracellular Matrix Pathway. Affiliated tissues include hip or, bone and testes, and related mouse phenotypes are skeleton and limbs/digits/tail.

Disease Ontology:11 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:24 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:69 Fairbank\'s disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form: 1... more...

Related Diseases for Multiple Epiphyseal Dysplasia

About this section

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 84)
idRelated DiseaseScoreTop Affiliating Genes
1osteochondrodysplasia12.4
2macrocephaly with multiple epiphyseal dysplasia and distinctive facies12.3
3multiple epiphyseal dysplasia, recessive12.2
4multiple epiphyseal dysplasia, dominant12.2
5complex lethal osteochondrodysplasia12.2
6hypertrichotic osteochondrodysplasia12.2
7multiple epiphyseal dysplasia with robin phenotype12.1
8col9a1-related multiple epiphyseal dysplasia12.1
9col9a2-related multiple epiphyseal dysplasia12.1
10col9a3-related multiple epiphyseal dysplasia12.1
11multiple epiphyseal dysplasia, autosomal dominant12.1
12multiple epiphyseal dysplasia due to collagen 9 anomaly12.1
13hypertrichotic osteochondrodysplasia cantu type12.0
14epiphyseal dysplasia, multiple, 411.9
15sulfate transporter-related osteochondrodysplasia11.9
16epiphyseal dysplasia, multiple, 111.8
17epiphyseal dysplasia, multiple, 511.8
18epiphyseal dysplasia, multiple, with myopia and deafness11.7
19epiphyseal dysplasia, multiple, 311.6
20epiphyseal dysplasia, multiple, 211.6
21skeletal dysplasias11.5
22epiphyseal dysplasia, multiple, 611.5
23fairbank disease11.4
24chondrodysplasia, blomstrand type11.3
25wolcott-rallison syndrome11.3
26microcephaly, epilepsy, and diabetes syndrome11.3
27faye-petersen-ward-carey syndrome11.2
28epiphyseal dysplasia, multiple, with miniepiphyses11.1
29epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia11.1
30osteogenesis imperfecta10.7
31pseudoachondroplasia10.5
32smith-mccort dysplasia10.4
33brachial plexus birth injuries10.2COL9A2, COL9A3
34myopathy10.1
35bone structure disease10.1COL9A2, COL9A3
36refsum disease10.0
37mucopolysaccharidosis iva10.0
38diastrophic dysplasia10.0
39woods syndrome10.0
40osteoarthritis10.0
41osteochondritis dissecans10.0
42fibrochondrogenesis10.0COMP, SLC26A2
43hemolytic anemia due to glutathione synthetase deficiency9.9COL2A1, COMP
44vater/vacterl association9.9COL2A1, COL9A3
45intervertebral disc disease9.9COL9A2, COL9A3
46smed strudwick type9.9COL2A1, COMP
47atrioventricular septal defect9.9COL9A2, COMP, SLC26A2
48acromesomelic dysplasia9.9COL2A1, COMP
49achondroplasia9.8
50tendinopathy9.8

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



Diseases related to multiple epiphyseal dysplasia

Symptoms for Multiple Epiphyseal Dysplasia

About this section

Symptoms:

 11
  • f
  • j

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:


hip pain, knee pain, arthralgia

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia

About this section

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

About this section

Genetic tests related to Multiple Epiphyseal Dysplasia:

id Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia25

Anatomical Context for Multiple Epiphyseal Dysplasia

About this section

MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia:

34
Bone, Testes, Heart

FMA organs/tissues related to Multiple Epiphyseal Dysplasia:

17
Hip or

Animal Models for Multiple Epiphyseal Dysplasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053906.8COL2A1, COL9A1, COL9A2, COMP, KIF7, MATN3
2MP:00053716.5COL2A1, COL9A1, COL9A2, COMP, KIF7, MATN3

Publications for Multiple Epiphyseal Dysplasia

About this section

Articles related to Multiple Epiphyseal Dysplasia:

(show top 50)    (show all 169)
idTitleAuthorsYear
1
Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation. (26920793)
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
Multiple epiphyseal dysplasia. (24640208)
2013
5
A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. (23840040)
2013
6
Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation. (22083516)
2012
7
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. (22587682)
2012
8
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. (21204225)
2011
9
Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test. (22052783)
2011
10
Five patients in a Chinese family with multiple epiphyseal dysplasia. (19781400)
2009
11
Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia. (18789631)
2009
12
What is your diagnosis? Multiple epiphyseal dysplasia. (19180712)
2008
13
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. (18328978)
2008
14
Clinical, radiographic, and pathologic abnormalities in dogs with multiple epiphyseal dysplasia: 19 cases (1991-2005). (18710316)
2008
15
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. (15503005)
2005
16
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
17
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group. (15880723)
2005
18
Multiple epiphyseal dysplasia in children: beware of overtreatment! (15887789)
2005
19
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. (11968079)
2002
20
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (10405447)
1999
21
Double-layered patella in multiple epiphyseal dysplasia: a valuable clue in the diagnosis. (9449113)
1998
22
A large family with multiple epiphyseal dysplasia linked to COL9A2 gene. (9605591)
1998
23
Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. (9689990)
1998
24
The orthopaedic aspects of multiple epiphyseal dysplasia. (10093815)
1998
25
Stature and severity in multiple epiphyseal dysplasia. (9600570)
1998
26
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (8702126)
1996
27
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. (7490089)
1995
28
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? (7747786)
1995
29
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. (7670472)
1995
30
Genetic heterogeneity in multiple epiphyseal dysplasia. (7887425)
1995
31
Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. (7942845)
1994
32
Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. (8279467)
1994
33
Multiple Epiphyseal Dysplasia, Recessive (20301483)
1993
34
Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage. (8465858)
1993
35
Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia. (8094597)
1993
36
Early diagnosis of multiple epiphyseal dysplasia. (1552030)
1992
37
Bilateral femoral head dysplasia and osteochondritis. Multiple epiphyseal dysplasia tarda, spondylo-epiphyseal dysplasia tarda, and bilateral Legg-Perthes disease. (3190947)
1988
38
Legg-Perthes disease versus multiple epiphyseal dysplasia. (3584454)
1987
39
Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. (6409926)
1983
40
Os trigonum syndrome in a patient with multiple epiphyseal dysplasia. (7186916)
1982
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
Rapidly progressive scoliosis in multiple epiphyseal dysplasia. A case report. (932068)
1976
44
Auriculoepiphyseal dysplasia (multiple epiphyseal dysplasia and anomalous auricles): clinical, structural and biochemical studies. (811276)
1975
45
Multiple epiphyseal dysplasia tarda. A family with autosomal recessive inheritance. (4426126)
1974
46
Multiple epiphyseal dysplasia in beagle puppies. (4531191)
1972
47
Multiple epiphyseal dysplasia in a litter of Beagle puppies. (4994640)
1971
48
Multiple epiphyseal dysplasia. Three cases with unusual vertebral abnormalities. (5801124)
1969
49
Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. II. Multiple epiphyseal dysplasia; its relation to other disorders of epiphyseal development. (13217487)
1954
50
Multiple Epiphyseal Dysplasia. (19991793)
1939

Variations for Multiple Epiphyseal Dysplasia

About this section

Copy number variations for Multiple Epiphyseal Dysplasia from CNVD:

6 (show all 32)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
13942810115018486115018506AmplificationMultiple Epiphyseal Dysplasia
252285111575893415758954AmplificationMultiple Epiphyseal Dysplasia
3536791131845633184744AmplificationMultiple Epiphyseal Dysplasia
499438162646146826461496DeletionMultiple Epiphyseal Dysplasia
5102850165748391057483929DeletionMultiple Epiphyseal Dysplasia
6106008168505521485055662AmplificationMultiple Epiphyseal Dysplasia
7118220177628876876288791AmplificationMultiple Epiphyseal Dysplasia
81351842112821042112821070DeletionMultiple Epiphyseal Dysplasia
91362772128814416128814555AmplificationMultiple Epiphyseal Dysplasia
10161380221852995318529978DeletionMultiple Epiphyseal Dysplasia
11161381221853062918530648DeletionMultiple Epiphyseal Dysplasia
12161382221853125018531269DeletionMultiple Epiphyseal Dysplasia
13163174222513880025138821DeletionMultiple Epiphyseal Dysplasia
141683863129646964129647007AmplificationMultiple Epiphyseal Dysplasia
151738713196980441196980460DeletionMultiple Epiphyseal Dysplasia
161971665175951772175952237AmplificationMultiple Epiphyseal Dysplasia
17201899574253637425390DeletionMultiple Epiphyseal Dysplasia
18203719617000000MicrodeletionMultiple Epiphyseal Dysplasia
19205380612576741259993DeletionFOXQ1Multiple Epiphyseal Dysplasia
20205876613350671340832DeletionFOXF2Multiple Epiphyseal Dysplasia
21207398615556791559128DeletionFOXC1Multiple Epiphyseal Dysplasia
222090556237100296355LossDUSP22Multiple Epiphyseal Dysplasia
2320919462503516825035187DeletionMultiple Epiphyseal Dysplasia
24209531626397272639800AmplificationMultiple Epiphyseal Dysplasia
25209532626397902639903AmplificationMultiple Epiphyseal Dysplasia
262117516336751356443LossIRF4Multiple Epiphyseal Dysplasia
2721593968343708983437111AmplificationMultiple Epiphyseal Dysplasia
282194077126686884126686912DeletionMultiple Epiphyseal Dysplasia
2922585975139810251398130DeletionMultiple Epiphyseal Dysplasia
302353908143598819143598899AmplificationMultiple Epiphyseal Dysplasia
312577290108403340108403362DeletionMultiple Epiphyseal Dysplasia
32262359034526473452672DeletionMultiple Epiphyseal Dysplasia

Expression for genes affiliated with Multiple Epiphyseal Dysplasia

About this section
Search GEO for disease gene expression data for Multiple Epiphyseal Dysplasia.

Pathways for genes affiliated with Multiple Epiphyseal Dysplasia

About this section

GO Terms for genes affiliated with Multiple Epiphyseal Dysplasia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1collagen type IX trimerGO:00055949.6COL9A1, COL9A2, COL9A3
2endoplasmic reticulum lumenGO:00057888.2COL2A1, COL9A1, COL9A2, COL9A3
3proteinaceous extracellular matrixGO:00055787.6COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3
4extracellular regionGO:00055767.4COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3

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

idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:00020629.3COL2A1, COL9A1
2ossificationGO:00015039.1COL2A1, SLC26A2
3skeletal system developmentGO:00015018.4COL2A1, COL9A2, COMP, MATN3
4extracellular matrix organizationGO:00301987.1COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3

Molecular functions related to Multiple Epiphyseal Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.8COMP, MATN3
2extracellular matrix structural constituent conferring tensile strengthGO:00300208.4COL2A1, COL9A1, COL9A2, COL9A3

Sources for Multiple Epiphyseal Dysplasia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet