MCID: MLT007
MIFTS: 51

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 11 48 25 50 13 68
Epiphyseal Dysplasia, Multiple, 5 25 68
Epiphyseal Dysplasia, Multiple, 4 25 68
Epiphyseal Dysplasia, Multiple, 3 25 68
Epiphyseal Dysplasia, Multiple, 2 25 68
Epiphyseal Dysplasia, Multiple, 1 25 68
Epiphyseal Dysplasia, Multiple 48 27
Osteochondrodysplasias 39 68
Med 48 25
Multiple Epiphyseal Dysplasia, Autosomal Recessive 25
Multiple Epiphyseal Dysplasia, Autosomal Dominant 25
 
Epiphyseal Dysplasia, Fairbank Type 25
Epiphyseal Dysplasia, Ribbing Type 25
Polyepiphyseal Dysplasia 11
Edm4 25
Edm3 25
Edm2 25
Edm1 25
Edm5 25
Rmed 25
Edm 48

Classifications:



External Ids:

Disease Ontology11 DOID:12721
ICD9CM32 756.56
SNOMED-CT62 205504001, 59708000
MeSH39 D010009

Summaries for Multiple Epiphyseal Dysplasia

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NIH Rare Diseases:48 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, 5, is related to epiphyseal dysplasia, multiple, 4 and osteopetrosis, and has symptoms including round face, sensorineural hearing impairment and anteverted nares. An important gene associated with Multiple Epiphyseal Dysplasia is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways are Gastric cancer network 2 and NCAM1 interactions. Affiliated tissues include hip or, bone and testes, and related mouse phenotypes are Increased gamma-H2AX phosphorylation and hearing/vestibular/ear.

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:25 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.

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
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 102)
idRelated DiseaseScoreTop Affiliating Genes
1epiphyseal dysplasia, multiple, 432.8DCN, SLC26A2
2osteopetrosis29.8ACAN, COL2A1
3osteochondrodysplasia12.3
4macrocephaly with multiple epiphyseal dysplasia and distinctive facies12.3
5complex lethal osteochondrodysplasia12.3
6hypertrichotic osteochondrodysplasia12.2
7multiple epiphyseal dysplasia, recessive12.1
8multiple epiphyseal dysplasia, dominant12.1
9multiple epiphyseal dysplasia with robin phenotype12.0
10col9a1-related multiple epiphyseal dysplasia12.0
11col9a2-related multiple epiphyseal dysplasia12.0
12col9a3-related multiple epiphyseal dysplasia12.0
13multiple epiphyseal dysplasia, autosomal dominant11.9
14multiple epiphyseal dysplasia due to collagen 9 anomaly11.9
15epiphyseal dysplasia, multiple, 111.9
16epiphyseal dysplasia, multiple, 511.9
17sulfate transporter-related osteochondrodysplasia11.8
18epiphyseal dysplasia, multiple, 311.8
19epiphyseal dysplasia, multiple, with myopia and deafness11.7
20epiphyseal dysplasia, multiple, 211.7
21epiphyseal dysplasia, multiple, 611.7
22skeletal dysplasias11.6
23microcephaly, epilepsy, and diabetes syndrome11.4
24skeletal dysplasia11.3
25chondrodysplasia, blomstrand type11.2
26osteogenesis imperfecta11.2
27wolcott-rallison syndrome11.2
28smith-mccort dysplasia11.2
29faye-petersen-ward-carey syndrome11.1
30desbuquois dysplasia 111.1
31epiphyseal dysplasia, multiple, with miniepiphyses10.9
32epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia10.9
33fairbank disease10.9
34refsum disease10.9
35mucopolysaccharidosis iva10.9
36vater/vacterl association10.5COL2A1, COL9A3
37hemolytic anemia due to glutathione synthetase deficiency10.4COL2A1, COMP
38pseudoachondroplasia10.4
39bloom syndrome10.4KIF7, MMEDF
40atrioventricular septal defect10.3COL9A2, COMP, SLC26A2
41osteopathia striata with pigmentary dermopathy including white forelock10.3COL2A1, COMP, MATN3
42neuropathy, distal hereditary motor, type iia10.3COL2A1, COMP, SLC26A2
43isolated congenital nasal pyriform aperture stenosis10.3COL9A1, COL9A2, COL9A3
44cerebral hemorrhage10.3ACAN, COMP
45atelosteogenesis ii10.3COL2A1, COMP, SLC26A2
46vulvovaginal candidiasis10.3COL2A1, COMP, SLC26A2
47stickler syndrome10.3COL2A1, COL9A2, SLC26A2
48deafness, autosomal dominant 1310.2COL11A2, COL2A1
49stickler syndrome, type ii10.2COL11A1, COL2A1
50bone structure disease10.2ACAN, COL9A2, COL9A3

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



Diseases related to multiple epiphyseal dysplasia

Symptoms & Phenotypes for Multiple Epiphyseal Dysplasia

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Symptoms:

 11
  • fatigue
  • joint pain

Human phenotypes related to Multiple Epiphyseal Dysplasia:

 64 (show all 23)
id Description HPO Frequency HPO Source Accession
1 round face64 hallmark (90%) HP:0000311
2 sensorineural hearing impairment64 hallmark (90%) HP:0000407
3 anteverted nares64 hallmark (90%) HP:0000463
4 myopia64 hallmark (90%) HP:0000545
5 abnormality of the metaphyses64 hallmark (90%) HP:0000944
6 brachydactyly syndrome64 hallmark (90%) HP:0001156
7 limitation of joint mobility64 hallmark (90%) HP:0001376
8 delayed skeletal maturation64 hallmark (90%) HP:0002750
9 abnormality of the ulna64 hallmark (90%) HP:0002997
10 abnormality of the wrist64 hallmark (90%) HP:0003019
11 abnormal cortical bone morphology64 hallmark (90%) HP:0003103
12 short palm64 hallmark (90%) HP:0004279
13 abnormality of epiphysis morphology64 hallmark (90%) HP:0005930
14 tarsal synostosis64 hallmark (90%) HP:0008368
15 aplasia/hypoplasia of the sacrum64 hallmark (90%) HP:0008517
16 rough bone trabeculation64 hallmark (90%) HP:0100670
17 malar flattening64 typical (50%) HP:0000272
18 abnormality of the femur64 typical (50%) HP:0002823
19 abnormal form of the vertebral bodies64 typical (50%) HP:0003312
20 short stature64 typical (50%) HP:0004322
21 anonychia64 occasional (7.5%) HP:0001798
22 micromelia64 occasional (7.5%) HP:0002983
23 abnormality of the hip bone64 occasional (7.5%) HP:0003272

UMLS symptoms related to Multiple Epiphyseal Dysplasia:


hip pain, knee pain, arthralgia

GenomeRNAi Phenotypes related to Multiple Epiphyseal Dysplasia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00053-A8.5COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, COMP

MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3COL11A1, COL11A2, COL2A1, COL9A1, COL9A2
2MP:00053828.7COL11A1, COL11A2, COL2A1, DCN, KIF7, SLC26A2
3MP:00053718.6COL11A1, COL2A1, COL9A1, COL9A2, COMP, KIF7
4MP:00053906.8COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COMP

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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Genetic tests related to Multiple Epiphyseal Dysplasia:

id Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia27

Anatomical Context for Multiple Epiphyseal Dysplasia

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MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia:

36
Bone, Testes, Heart

FMA organs/tissues related to Multiple Epiphyseal Dysplasia:

17
Hip or

Publications for Multiple Epiphyseal Dysplasia

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Articles related to Multiple Epiphyseal Dysplasia:

(show top 50)    (show all 170)
idTitleAuthorsYear
1
Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family. (28051032)
2017
2
Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation. (26920793)
2016
3
Tissue-engineered cartilage implantation for the chondral lesion in a patient with multiple epiphyseal dysplasia. (26740422)
2016
4
Extensive Arthroscopic Chondroplasty for Cartilage Hyperplasia of the Femoral Condyle Causing Recurrent Knee Locking in a Patient With Multiple Epiphyseal Dysplasia. (27354941)
2016
5
The fate of hips that are conservatively treated in multiple epiphyseal dysplasia. (27398645)
2016
6
Bilateral Second Carpal Row Duplication Associated with Multiple Epiphyseal Dysplasia. (26649258)
2015
7
Multiple Epiphyseal Dysplasia. (25667404)
2015
8
Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report. (25381065)
2014
9
Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia. (23934641)
2014
10
Assessment of skeletal age in multiple epiphyseal dysplasia. (25210941)
2014
11
Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia. (24458706)
2014
12
Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study. (24629099)
2014
13
SLC26A2 disease spectrum in SwedenA -A high frequency of recessive multiple epiphyseal dysplasia (rMED). (24598000)
2014
14
Multiple epiphyseal dysplasia. (24640208)
2013
15
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
16
EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia. (23506586)
2013
17
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
18
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. (22587682)
2012
19
Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia. (22948526)
2012
20
Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome? (23431744)
2012
21
Osteochondral autograft for medial femoral condyle chondral lesions in a patient with multiple epiphyseal dysplasia: long-term result. (21559955)
2012
22
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. (21922596)
2012
23
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. (21204225)
2011
24
Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test. (22052783)
2011
25
Spectrum of intra-articular findings of the acute and subacute painful hip with multiple epiphyseal dysplasia/spondyloepiphyseal dysplasia. (21691226)
2011
26
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. (21965141)
2011
27
Clinical features and treatment of the hip in multiple epiphyseal dysplasia in childhood. (21598888)
2011
28
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia. (19808781)
2010
29
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. (20358595)
2010
30
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. (20592910)
2010
31
Total hip replacement in patients with multiple epiphyseal dysplasia with a mean follow-up of 15 years and survival analysis. (20357323)
2010
32
An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia. (20428984)
2010
33
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. (20525296)
2010
34
Five patients in a Chinese family with multiple epiphyseal dysplasia. (19781400)
2009
35
Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia. (18789631)
2009
36
Hemiepiphyseal stapling for angular deformity correction around the knee joint in children with multiple epiphyseal dysplasia. (19098647)
2009
37
Modular cementless total hip arthroplasty for multiple epiphyseal dysplasia. (18534387)
2009
38
Multiple epiphyseal dysplasia. (19995321)
2009
39
What is your diagnosis? Multiple epiphyseal dysplasia. (19180712)
2008
40
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. (18328978)
2008
41
Clinical, radiographic, and pathologic abnormalities in dogs with multiple epiphyseal dysplasia: 19 cases (1991-2005). (18710316)
2008
42
Arthroscopic decompression and notchplasty for long-standing anterior cruciate ligament impingement in a patient with multiple epiphyseal dysplasia: a case report. (18498631)
2008
43
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. (18553123)
2008
44
Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia]. (18487141)
2008
45
An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia. (18338162)
2008
46
Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia. (18546327)
2008
47
Heart-shaped sesamoid in multiple epiphyseal dysplasia. (17653537)
2007
48
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. (17133256)
2007
49
Case 95: fracture of double-layered patella in multiple epiphyseal dysplasia. (16714467)
2006
50
Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population. (16691584)
2006

Variations for Multiple Epiphyseal Dysplasia

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Clinvar genetic disease variations for Multiple Epiphyseal Dysplasia:

5 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC26A2NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp)SNVPathogenicrs104893915GRCh37Chr 5, 149359991: 149359991
2SLC26A2NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter)SNVPathogenicrs104893919GRCh37Chr 5, 149357747: 149357747
3SLC26A2NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val)SNVLikely pathogenic, Pathogenicrs104893916GRCh37Chr 5, 149361189: 149361189
4SLC26A2NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser)SNVLikely pathogenic, Pathogenicrs104893924GRCh37Chr 5, 149361113: 149361113
5COMPNM_000095.2(COMP): c.1754C> G (p.Thr585Arg)SNVPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
6COMPNM_000095.2(COMP): c.1754C> T (p.Thr585Met)SNVPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
7COMPNM_000095.2(COMP): c.1156_1158delAAC (p.Asn386del)deletionPathogenicrs397515510GRCh37Chr 19, 18897438: 18897440
8COMPNM_000095.2(COMP): c.1665C> A (p.Asn555Lys)SNVPathogenicrs397515511GRCh37Chr 19, 18896486: 18896486
9COMPNM_000095.2(COMP): c.1813G> A (p.Asp605Asn)SNVPathogenicrs397515512GRCh37Chr 19, 18895807: 18895807
10COMPNM_000095.2(COMP): c.2042C> G (p.Ser681Cys)SNVPathogenicrs397515513GRCh37Chr 19, 18895046: 18895046
11COMPNM_000095.2(COMP): c.2153G> C (p.Arg718Pro)SNVPathogenicrs149551600GRCh37Chr 19, 18893938: 18893938
12SLC26A2NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del)deletionLikely pathogenic, Pathogenicrs121908077GRCh37Chr 5, 149360176: 149360178
13MATN3NM_002381.4(MATN3): c.359C> T (p.Thr120Met)SNVPathogenicrs397515546GRCh37Chr 2, 20205936: 20205936
14MATN3NM_002381.4(MATN3): c.581T> A (p.Val194Asp)SNVPathogenicrs104893645GRCh37Chr 2, 20205714: 20205714
15MATN3NM_002381.4(MATN3): c.361C> T (p.Arg121Trp)SNVPathogenicrs104893637GRCh37Chr 2, 20205934: 20205934
16MATN3NM_002381.4(MATN3): c.656C> A (p.Ala219Asp)SNVPathogenicrs28939677GRCh37Chr 2, 20205639: 20205639
17MATN3NM_002381.4(MATN3): c.209G> A (p.Arg70His)SNVPathogenicrs104893640GRCh37Chr 2, 20212184: 20212184
18MATN3NM_002381.4(MATN3): c.382G> C (p.Ala128Pro)SNVPathogenicrs104893641GRCh37Chr 2, 20205913: 20205913
19COMPNM_000095.2(COMP): c.1569C> G (p.Asn523Lys)SNVPathogenicrs137852654GRCh37Chr 19, 18896582: 18896582
20COMPNM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp)duplicationPathogenicrs312262898GRCh37Chr 19, 18896845: 18896847
21COMPNM_000095.2(COMP): c.2223dupC (p.Asn742Glnfs)duplicationPathogenicrs869320730GRCh38Chr 19, 18783058: 18783058
22COMPNM_000095.2(COMP): c.2152C> T (p.Arg718Trp)SNVPathogenicrs28936368GRCh37Chr 19, 18893939: 18893939

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
31257729X108403340108403362DeletionMultiple Epiphyseal Dysplasia
32262359X34526473452672DeletionMultiple Epiphyseal Dysplasia

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
19.9COL9A1, COL9A3
29.6COL9A1, COL9A2, COL9A3
39.1ACAN, COL2A1, DCN
4
Show member pathways
9.0COL2A1, COL9A1, COL9A2, COL9A3, COMP
59.0COL2A1, COL9A1, COL9A2, COL9A3, COMP
68.8ACAN, COL2A1, COMP, DCN
7
Show member pathways
8.2COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
88.2COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
98.0ACAN, COL9A1, COL9A2, COL9A3, COMP, DCN
10
Show member pathways
8.0COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
11
Show member pathways
7.8ACAN, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2
12
Show member pathways
7.8ACAN, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2
13
Show member pathways
6.7ACAN, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2

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:000559410.3COL9A1, COL9A2, COL9A3
2collagen type XI trimerGO:000559210.3COL11A1, COL11A2
3collagen trimerGO:00055819.9COL11A1, COL11A2, COL2A1
4extracellular matrixGO:00310129.1ACAN, COL11A1, COL2A1, COMP, DCN
5endoplasmic reticulum lumenGO:00057889.0COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
6extracellular regionGO:00055767.3ACAN, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2
7proteinaceous extracellular matrixGO:00055787.2ACAN, COL11A1, COL2A1, COL9A1, COL9A2, COL9A3

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cartilage condensationGO:000150210.3COL11A1, COL2A1
2proteoglycan metabolic processGO:000602910.2COL11A1, COL2A1
3chondrocyte developmentGO:000206310.2ACAN, COL11A1
4chondrocyte differentiationGO:000206210.0COL11A2, COL2A1, COL9A1
5animal organ morphogenesisGO:000988710.0COL9A1, COMP, DCN
6cartilage developmentGO:00512169.8COL11A1, COL11A2, COL2A1
7collagen catabolic processGO:00305749.8COL11A1, COL11A2, COL2A1
8sensory perception of soundGO:00076059.7COL11A1, COL11A2, COL2A1
9tissue homeostasisGO:00018949.7COL11A2, COL2A1
10ossificationGO:00015039.5COL11A1, COL11A2, COL2A1, SLC26A2
11skeletal system morphogenesisGO:00487059.5COL11A1, COL11A2, COL2A1
12collagen fibril organizationGO:00301999.4ACAN, COL11A1, COL11A2, COL2A1
13skeletal system developmentGO:00015018.9ACAN, COL11A2, COL2A1, COL9A2, COMP, MATN3
14extracellular matrix organizationGO:00301987.8ACAN, COL11A1, COL2A1, COL9A1, COL9A2, COL9A3

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:00508409.8COL11A1, DCN
2extracellular matrix structural constituentGO:00052019.2ACAN, COL11A1, COMP, MATN3
3extracellular matrix structural constituent conferring tensile strengthGO:00300208.8COL11A2, COL2A1, COL9A1, COL9A2, COL9A3

Sources for Multiple Epiphyseal Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet