EDM
MCID: MLT007
MIFTS: 57

Multiple Epiphyseal Dysplasia (EDM)

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

Aliases & Classifications for Multiple Epiphyseal Dysplasia

MalaCards integrated aliases for Multiple Epiphyseal Dysplasia:

Name: Multiple Epiphyseal Dysplasia 12 53 25 37 29 55 6 15 73
Epiphyseal Dysplasia, Multiple, 1 25 73
Epiphyseal Dysplasia, Multiple, 4 25 73
Epiphyseal Dysplasia, Multiple, 2 25 73
Epiphyseal Dysplasia, Multiple, 3 25 73
Epiphyseal Dysplasia, Multiple, 5 25 73
Osteochondrodysplasias 44 73
Med 53 25
Multiple Epiphyseal Dysplasia, Autosomal Recessive 25
Multiple Epiphyseal Dysplasia, Autosomal Dominant 25
Epiphyseal Dysplasia, Fairbank Type 25
Epiphyseal Dysplasia, Ribbing Type 25
Dysplasia, Epiphyseal, Multiple 40
Epiphyseal Dysplasia, Multiple 53
Polyepiphyseal Dysplasia 12
Edm1 25
Edm4 25
Edm2 25
Edm3 25
Edm5 25
Rmed 25
Edm 53

Classifications:



Summaries for Multiple Epiphyseal Dysplasia

NIH Rare Diseases : 53 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.

MalaCards based summary : Multiple Epiphyseal Dysplasia, also known as epiphyseal dysplasia, multiple, 1, is related to multiple epiphyseal dysplasia due to collagen 9 anomaly and osteochondrodysplasia, and has symptoms including arthralgia, hip pain and knee pain. An important gene associated with Multiple Epiphyseal Dysplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include bone, heart and lung, and related phenotypes are abnormality of epiphysis morphology and hip dysplasia

Disease Ontology : 12 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.

Wikipedia : 76 Fairbank''s disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form: 1... more...

Related Diseases for Multiple Epiphyseal Dysplasia

Diseases in the Multiple Epiphyseal Dysplasia family:

Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 4
Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 3
Epiphyseal Dysplasia, Multiple, 5 Epiphyseal Dysplasia, Multiple, 6
Epiphyseal Dysplasia, Multiple, 7 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly
Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia, Recessive

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

(show top 50) (show all 506)
# Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia due to collagen 9 anomaly 33.8 COL9A1 COL9A2 COL9A3
2 osteochondrodysplasia 33.5 COL2A1 SLC26A2
3 epiphyseal dysplasia, multiple, 4 33.3 COL9A1 COL9A2 COL9A3 MATN3 SLC26A2
4 epiphyseal dysplasia, multiple, 2 33.3 COL9A1 COL9A2 COL9A3 COMP
5 epiphyseal dysplasia, multiple, 3 33.1 COL9A2 COL9A3 COMP MATN3
6 skeletal dysplasias 33.1 COL2A1 COMP MATN3
7 epiphyseal dysplasia, multiple, 5 33.0 COL9A2 COL9A3 COMP MATN3 SLC26A2
8 epiphyseal dysplasia, multiple, 1 32.4 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3
9 kniest dysplasia 32.1 COL2A1 COMP
10 spondyloepimetaphyseal dysplasia, matrilin-3 related 31.8 COL2A1 MATN3
11 achondrogenesis 31.8 COL2A1 COL9A2 SLC26A2
12 otospondylomegaepiphyseal dysplasia, autosomal dominant 31.7 COL11A2 COL2A1
13 otospondylomegaepiphyseal dysplasia 31.2 COL11A2 COL2A1
14 hypochondrogenesis 31.2 ACAN COL2A1 COMP
15 campomelic dysplasia 31.2 COL11A2 COL2A1
16 spondyloepiphyseal dysplasia with congenital joint dislocations 30.2 ACAN COL2A1 SLC26A2
17 diastrophic dysplasia 30.1 COL2A1 COMP SLC26A2
18 achondroplasia 30.1 ACAN COMP
19 pseudoachondroplasia 30.1 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3
20 spondyloepiphyseal dysplasia congenita 29.9 COL2A1 COMP SLC26A2
21 osteochondritis dissecans 29.6 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3
22 metaphyseal chondrodysplasia, schmid type 29.6 COMP MATN3
23 achondrogenesis, type ia 29.4 ACAN COL2A1 SLC26A2
24 otospondylomegaepiphyseal dysplasia, autosomal recessive 29.3 COL11A2 COL2A1
25 achondrogenesis, type ii 29.3 ACAN COL2A1 COMP
26 myopia 29.3 COL11A2 COL2A1 COL9A1 COL9A2
27 osteoarthritis 29.3 ACAN COL11A2 COL2A1 COL9A1 COMP MATN3
28 spinal stenosis 28.4 ACAN COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
29 osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 12.6
30 multiple epiphyseal dysplasia, recessive 12.3
31 multiple epiphyseal dysplasia with robin phenotype 12.3
32 al-gazali-bakalinova syndrome 12.3
33 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 12.2
34 multiple epiphyseal dysplasia, autosomal dominant 12.2
35 cantu syndrome 12.2
36 epiphyseal dysplasia, multiple, 6 12.1
37 osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 12.0
38 microcephaly, epilepsy, and diabetes syndrome 12.0
39 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 12.0
40 epiphyseal dysplasia, multiple, with myopia and conductive deafness 11.9
41 epiphyseal dysplasia, multiple, 7 11.9
42 chondrodysplasia, blomstrand type 11.7
43 faye-petersen-ward-carey syndrome 11.6
44 brittle bone disorder 11.4
45 craniometaphyseal dysplasia, autosomal dominant 11.3
46 smith-mccort dysplasia 1 11.3
47 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia 11.2
48 epiphyseal dysplasia, multiple, with miniepiphyses 11.2
49 leri-weill dyschondrosteosis 11.2
50 hypochondroplasia 11.2

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



Diseases related to Multiple Epiphyseal Dysplasia

Symptoms & Phenotypes for Multiple Epiphyseal Dysplasia

Human phenotypes related to Multiple Epiphyseal Dysplasia:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 abnormality of epiphysis morphology 32 hallmark (90%) HP:0005930
2 hip dysplasia 32 occasional (7.5%) HP:0001385
3 delayed skeletal maturation 32 hallmark (90%) HP:0002750
4 joint stiffness 32 hallmark (90%) HP:0001387
5 abnormality of the ulna 32 hallmark (90%) HP:0002997
6 abnormal cortical bone morphology 32 hallmark (90%) HP:0003103
7 sensorineural hearing impairment 32 hallmark (90%) HP:0000407
8 anteverted nares 32 hallmark (90%) HP:0000463
9 short stature 32 frequent (33%) HP:0004322
10 abnormality of vision 32 hallmark (90%) HP:0000504
11 abnormality of the metaphysis 32 hallmark (90%) HP:0000944
12 micromelia 32 occasional (7.5%) HP:0002983
13 abnormal form of the vertebral bodies 32 frequent (33%) HP:0003312
14 flat face 32 frequent (33%) HP:0012368
15 myopia 32 hallmark (90%) HP:0000545
16 small hand 32 hallmark (90%) HP:0200055
17 brachydactyly 32 hallmark (90%) HP:0001156
18 round face 32 hallmark (90%) HP:0000311
19 anonychia 32 occasional (7.5%) HP:0001798
20 rough bone trabeculation 32 hallmark (90%) HP:0100670
21 abnormality of the carpal bones 32 hallmark (90%) HP:0001191
22 flattened femoral head 32 frequent (33%) HP:0008812
23 abnormality of the tarsal bones 32 hallmark (90%) HP:0001850
24 abnormality of t cell physiology 32 hallmark (90%) HP:0011840

UMLS symptoms related to Multiple Epiphyseal Dysplasia:


arthralgia, hip pain, knee pain

MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.5 COL2A1 COL9A1 COL9A2 COMP KIF7 MATN3
2 hearing/vestibular/ear MP:0005377 9.46 COL11A2 COL2A1 COL9A1 COL9A2
3 skeleton MP:0005390 9.23 COL11A2 COL2A1 COL9A1 COL9A2 COMP KIF7

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433

Search NIH Clinical Center for Multiple Epiphyseal Dysplasia

Cochrane evidence based reviews: osteochondrodysplasias

Genetic Tests for Multiple Epiphyseal Dysplasia

Genetic tests related to Multiple Epiphyseal Dysplasia:

# Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 29

Anatomical Context for Multiple Epiphyseal Dysplasia

MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia:

41
Bone, Heart, Lung, Liver, Spinal Cord, Prostate, T Cells

Publications for Multiple Epiphyseal Dysplasia

Articles related to Multiple Epiphyseal Dysplasia:

(show top 50) (show all 180)
# Title Authors Year
1
Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report. ( 29724173 )
2018
2
Articulated Hip Distraction for Impingement of the Deformed Femoral Head in a Patient with Multiple Epiphyseal Dysplasia: A Case Report. ( 29995666 )
2018
3
Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. ( 30423444 )
2018
4
Novel mutations in the cartilage oligomeric matrix protein gene identified in two Taiwanese patients with pseudoachondroplasia and multiple epiphyseal dysplasia. ( 29162415 )
2017
5
Modyfied wedge osteotomy for osteoarthritis of elbow secondary to osteochondritis dissecans in adolecent with multiple epiphyseal dysplasia. A case report. ( 28860685 )
2017
6
Hybrid total hip arthroplasty for multiple epiphyseal dysplasia. ( 29274861 )
2017
7
Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family. ( 28051032 )
2017
8
Double-Layered Patella (DLP) in Multiple Epiphyseal Dysplasia (MED). ( 30039000 )
2017
9
Early Osteoarthritis and Double-Layered Patella in a Patient With Multiple Epiphyseal Dysplasia. ( 30375546 )
2017
10
Tissue-engineered cartilage implantation for the chondral lesion in a patient with multiple epiphyseal dysplasia. ( 26740422 )
2016
11
Extensive Arthroscopic Chondroplasty for Cartilage Hyperplasia of the Femoral Condyle Causing Recurrent Knee Locking in a Patient With Multiple Epiphyseal Dysplasia. ( 27354941 )
2016
12
The fate of hips that are conservatively treated in multiple epiphyseal dysplasia. ( 27398645 )
2016
13
Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation. ( 26920793 )
2016
14
Multiple Epiphyseal Dysplasia. ( 25667404 )
2015
15
Bilateral Second Carpal Row Duplication Associated with Multiple Epiphyseal Dysplasia. ( 26649258 )
2015
16
Single-Stage Corrective Osteotomies for Multiple Angular Deformities Around the Knee Joint with Patellar Instability in a Patient with Multiple Epiphyseal Dysplasia: A Case Report. ( 29252592 )
2015
17
Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia. ( 23934641 )
2014
18
Assessment of skeletal age in multiple epiphyseal dysplasia. ( 25210941 )
2014
19
Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study. ( 24629099 )
2014
20
Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia. ( 24458706 )
2014
21
Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report. ( 25381065 )
2014
22
SLC26A2 disease spectrum in SwedenA -A high frequency of recessive multiple epiphyseal dysplasia (rMED). ( 24598000 )
2014
23
Multiple epiphyseal dysplasia. ( 24640208 )
2013
24
EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia. ( 23506586 )
2013
25
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
26
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
27
Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia. ( 22948526 )
2012
28
Osteochondral autograft for medial femoral condyle chondral lesions in a patient with multiple epiphyseal dysplasia: long-term result. ( 21559955 )
2012
29
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. ( 22587682 )
2012
30
Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome? ( 23431744 )
2012
31
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
32
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. ( 21965141 )
2011
33
Spectrum of intra-articular findings of the acute and subacute painful hip with multiple epiphyseal dysplasia/spondyloepiphyseal dysplasia. ( 21691226 )
2011
34
Clinical features and treatment of the hip in multiple epiphyseal dysplasia in childhood. ( 21598888 )
2011
35
Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test. ( 22052783 )
2011
36
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. ( 21204225 )
2011
37
Multiple epiphyseal dysplasia in an Old Kingdom Egyptian skeleton: A case report. ( 29539336 )
2011
38
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
39
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. ( 20358595 )
2010
40
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
41
Total hip replacement in patients with multiple epiphyseal dysplasia with a mean follow-up of 15 years and survival analysis. ( 20357323 )
2010
42
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia. ( 19808781 )
2010
43
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. ( 20592910 )
2010
44
Hemiepiphyseal stapling for angular deformity correction around the knee joint in children with multiple epiphyseal dysplasia. ( 19098647 )
2009
45
Multiple epiphyseal dysplasia. ( 19995321 )
2009
46
Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia. ( 18789631 )
2009
47
Modular cementless total hip arthroplasty for multiple epiphyseal dysplasia. ( 18534387 )
2009
48
Five patients in a Chinese family with multiple epiphyseal dysplasia. ( 19781400 )
2009
49
[Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia]. ( 18487141 )
2008
50
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. ( 18328978 )
2008

Variations for Multiple Epiphyseal Dysplasia

ClinVar genetic disease variations for Multiple Epiphyseal Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.1916G> A (p.Gly639Asp) single nucleotide variant Likely pathogenic rs1057518908 GRCh37 Chromosome 12, 48377895: 48377895
2 COL2A1 NM_001844.4(COL2A1): c.1916G> A (p.Gly639Asp) single nucleotide variant Likely pathogenic rs1057518908 GRCh38 Chromosome 12, 47984112: 47984112

Copy number variations for Multiple Epiphyseal Dysplasia from CNVD:

7 (show all 32)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 39428 10 115018486 115018506 Amplification Multiple Epiphyseal Dysplasia
2 52285 11 15758934 15758954 Amplification Multiple Epiphyseal Dysplasia
3 53679 11 3184563 3184744 Amplification Multiple Epiphyseal Dysplasia
4 99438 16 26461468 26461496 Deletion Multiple Epiphyseal Dysplasia
5 102850 16 57483910 57483929 Deletion Multiple Epiphyseal Dysplasia
6 106008 16 85055214 85055662 Amplification Multiple Epiphyseal Dysplasia
7 118220 17 76288768 76288791 Amplification Multiple Epiphyseal Dysplasia
8 135184 2 112821042 112821070 Deletion Multiple Epiphyseal Dysplasia
9 136277 2 128814416 128814555 Amplification Multiple Epiphyseal Dysplasia
10 161380 22 18529953 18529978 Deletion Multiple Epiphyseal Dysplasia
11 161381 22 18530629 18530648 Deletion Multiple Epiphyseal Dysplasia
12 161382 22 18531250 18531269 Deletion Multiple Epiphyseal Dysplasia
13 163174 22 25138800 25138821 Deletion Multiple Epiphyseal Dysplasia
14 168386 3 129646964 129647007 Amplification Multiple Epiphyseal Dysplasia
15 173871 3 196980441 196980460 Deletion Multiple Epiphyseal Dysplasia
16 197166 5 175951772 175952237 Amplification Multiple Epiphyseal Dysplasia
17 201899 5 7425363 7425390 Deletion Multiple Epiphyseal Dysplasia
18 203719 6 1 7000000 Microdeletion Multiple Epiphyseal Dysplasia
19 205380 6 1257674 1259993 Deletion FOXQ1 Multiple Epiphyseal Dysplasia
20 205876 6 1335067 1340832 Deletion FOXF2 Multiple Epiphyseal Dysplasia
21 207398 6 1555679 1559128 Deletion FOXC1 Multiple Epiphyseal Dysplasia
22 209055 6 237100 296355 Loss DUSP22 Multiple Epiphyseal Dysplasia
23 209194 6 25035168 25035187 Deletion Multiple Epiphyseal Dysplasia
24 209531 6 2639727 2639800 Amplification Multiple Epiphyseal Dysplasia
25 209532 6 2639790 2639903 Amplification Multiple Epiphyseal Dysplasia
26 211751 6 336751 356443 Loss IRF4 Multiple Epiphyseal Dysplasia
27 215939 6 83437089 83437111 Amplification Multiple Epiphyseal Dysplasia
28 219407 7 126686884 126686912 Deletion Multiple Epiphyseal Dysplasia
29 225859 7 51398102 51398130 Deletion Multiple Epiphyseal Dysplasia
30 235390 8 143598819 143598899 Amplification Multiple Epiphyseal Dysplasia
31 257729 X 108403340 108403362 Deletion Multiple Epiphyseal Dysplasia
32 262359 X 3452647 3452672 Deletion Multiple Epiphyseal Dysplasia

Expression for Multiple Epiphyseal Dysplasia

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

Pathways for Multiple Epiphyseal Dysplasia

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 ACAN COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
2
Show member pathways
13.13 ACAN COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
3
Show member pathways
12.77 ACAN COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
4
Show member pathways
12.73 COL2A1 COL9A1 COL9A2 COL9A3 COMP
5
Show member pathways
12.61 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP
6
Show member pathways
12.6 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
7
Show member pathways
12.21 ACAN COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
8
Show member pathways
11.9 ACAN COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
9
Show member pathways
11.73 COL2A1 COL9A1 COL9A2 COL9A3 COMP
10 11.35 ACAN COL2A1
11 11.2 COL9A1 COL9A2 COL9A3
12 11.17 ACAN COL2A1 COMP
13 11.04 COL9A1 COL9A3
14 10.86 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3
15 10.64 ACAN COL11A2 COL2A1 COL9A1 COL9A2 COL9A3

GO Terms for Multiple Epiphyseal Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.92 ACAN COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
2 extracellular space GO:0005615 9.91 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3 COMP
3 endoplasmic reticulum lumen GO:0005788 9.73 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3 MATN3
4 collagen-containing extracellular matrix GO:0062023 9.71 ACAN COL11A2 COL2A1 COMP
5 basement membrane GO:0005604 9.61 ACAN COL2A1 COL9A2
6 collagen trimer GO:0005581 9.35 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
7 collagen type IX trimer GO:0005594 9.33 COL9A1 COL9A2 COL9A3
8 extracellular matrix GO:0031012 9.23 ACAN COL11A2 COL2A1 COL9A1 COL9A2 COL9A3

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

# Name GO ID Score Top Affiliating Genes
1 roof of mouth development GO:0060021 9.43 COL11A2 COL2A1
2 skeletal system development GO:0001501 9.43 ACAN COL11A2 COL2A1 COL9A2 COMP MATN3
3 skeletal system morphogenesis GO:0048705 9.4 COL11A2 COL2A1
4 chondrocyte differentiation GO:0002062 9.37 COL11A2 COL2A1
5 collagen fibril organization GO:0030199 9.33 ACAN COL11A2 COL2A1
6 tissue homeostasis GO:0001894 9.32 COL11A2 COL2A1
7 cartilage condensation GO:0001502 9.26 ACAN COL2A1
8 extracellular matrix organization GO:0030198 9.23 ACAN COL11A2 COL2A1 COL9A1 COL9A2 COL9A3

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.35 COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
2 extracellular matrix structural constituent GO:0005201 9.23 ACAN COL11A2 COL2A1 COL9A1 COL9A2 COL9A3

Sources for Multiple Epiphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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