EDM
MCID: MLT007
MIFTS: 50

Multiple Epiphyseal Dysplasia (EDM) malady

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

Aliases & Classifications for Multiple Epiphyseal Dysplasia

Aliases & Descriptions for Multiple Epiphyseal Dysplasia:

Name: Multiple Epiphyseal Dysplasia 12 50 25 52 14 69
Epiphyseal Dysplasia, Multiple, 2 25 69
Epiphyseal Dysplasia, Multiple, 5 25 69
Epiphyseal Dysplasia, Multiple, 4 25 69
Epiphyseal Dysplasia, Multiple, 1 25 69
Epiphyseal Dysplasia, Multiple, 3 25 69
Epiphyseal Dysplasia, Multiple 50 29
Osteochondrodysplasias 42 69
Med 50 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 12
Edm4 25
Rmed 25
Edm1 25
Edm2 25
Edm3 25
Edm5 25
Edm 50

Classifications:



External Ids:

Disease Ontology 12 DOID:12721
ICD9CM 35 756.56
MeSH 42 D010009
SNOMED-CT 64 205504001 59708000
UMLS 69 C0026760

Summaries for Multiple Epiphyseal Dysplasia

NIH Rare Diseases : 50 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, 2, is related to epiphyseal dysplasia, multiple, with myopia and deafness and osteopetrosis, and has symptoms including fatigue, joint pain and joint stiffness. An important gene associated with Multiple Epiphyseal Dysplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include bone, t cells and testes, and related phenotypes are limbs/digits/tail and skeleton

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.

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.

Wikipedia : 71 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, 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 91)
id Related Disease Score Top Affiliating Genes
1 epiphyseal dysplasia, multiple, with myopia and deafness 32.4 ACAN COL2A1 COMP
2 osteopetrosis 28.8 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3
3 osteochondrodysplasia 12.3
4 macrocephaly with multiple epiphyseal dysplasia and distinctive facies 12.3
5 complex lethal osteochondrodysplasia 12.3
6 hypertrichotic osteochondrodysplasia 12.2
7 multiple epiphyseal dysplasia, recessive 12.1
8 multiple epiphyseal dysplasia, dominant 12.1
9 multiple epiphyseal dysplasia with robin phenotype 12.0
10 hypertrichotic osteochondrodysplasia cantu type 12.0
11 col9a1-related multiple epiphyseal dysplasia 12.0
12 col9a2-related multiple epiphyseal dysplasia 12.0
13 col9a3-related multiple epiphyseal dysplasia 12.0
14 epiphyseal dysplasia, multiple, 4 12.0
15 multiple epiphyseal dysplasia due to collagen 9 anomaly 11.9
16 multiple epiphyseal dysplasia, autosomal dominant 11.9
17 epiphyseal dysplasia, multiple, 1 11.9
18 epiphyseal dysplasia, multiple, 5 11.9
19 epiphyseal dysplasia, multiple, 3 11.7
20 sulfate transporter-related osteochondrodysplasia 11.7
21 epiphyseal dysplasia, multiple, 2 11.7
22 epiphyseal dysplasia, multiple, 6 11.7
23 skeletal dysplasias 11.6
24 fairbank disease 11.5
25 microcephaly, epilepsy, and diabetes syndrome 11.4
26 skeletal dysplasia 11.3
27 chondrodysplasia, blomstrand type 11.2
28 osteogenesis imperfecta 11.2
29 wolcott-rallison syndrome 11.2
30 smith-mccort dysplasia 11.2
31 faye-petersen-ward-carey syndrome 11.1
32 epiphyseal dysplasia, multiple, with miniepiphyses 10.9
33 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia 10.9
34 refsum disease 10.9
35 mucopolysaccharidosis iva 10.9
36 pseudoachondroplasia 10.4
37 cerebral beriberi 10.1 COL9A2 COL9A3
38 pityriasis rubra pilaris 10.1 COMP SLC26A2
39 vulvar sarcoma 10.1 ACAN COMP
40 stickler syndrome, type v 10.0 COL9A2 COL9A3
41 myopathy 10.0
42 hemolytic anemia due to glutathione synthetase deficiency 10.0 COL2A1 COMP
43 dentin dysplasia 10.0 ACAN COL9A3
44 congenital disorder of glycosylation, type ip 10.0 COL2A1 MATN3
45 vater/vacterl association 10.0 COL2A1 COL9A3
46 gingival fibromatosis 10.0 COMP SLC26A2
47 vitelliform macular dystrophy 10.0 COL9A2 COMP SLC26A2
48 smed strudwick type 10.0 COL2A1 COMP
49 warm antibody hemolytic anemia 10.0 COL2A1 COL9A2
50 bone resorption disease 9.9 ACAN 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

Symptoms:

12
  • fatigue
  • joint pain

Human phenotypes related to Multiple Epiphyseal Dysplasia:

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

UMLS symptoms related to Multiple Epiphyseal Dysplasia:


hip pain, arthralgia

MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.43 SLC26A2 COL2A1 COL9A1 COL9A2 COMP MATN3
2 skeleton MP:0005390 9.1 COL2A1 COL9A1 COL9A2 COMP MATN3 SLC26A2

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia

Interventional clinical trials:


id Name Status NCT ID Phase
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:

id Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 29

Anatomical Context for Multiple Epiphyseal Dysplasia

MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia:

39
Bone, T Cells, Testes, Heart

The Foundational Model of Anatomy Ontology organs/tissues related to Multiple Epiphyseal Dysplasia:

18
Hip Or

Publications for Multiple Epiphyseal Dysplasia

Articles related to Multiple Epiphyseal Dysplasia:

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

ClinVar genetic disease variations for Multiple Epiphyseal Dysplasia:

6 (show all 31)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.391delC (p.Leu131Cysfs) deletion Pathogenic/Likely pathogenic rs786200881 GRCh37 Chromosome 5, 149357606: 149357606
2 SLC26A2 NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp) single nucleotide variant Pathogenic rs104893915 GRCh37 Chromosome 5, 149359991: 149359991
3 SLC26A2 NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs104893919 GRCh37 Chromosome 5, 149357747: 149357747
4 SLC26A2 NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val) single nucleotide variant Pathogenic/Likely pathogenic rs104893916 GRCh37 Chromosome 5, 149361189: 149361189
5 SLC26A2 NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104893924 GRCh37 Chromosome 5, 149361113: 149361113
6 MATN3 NM_002381.4(MATN3): c.581T> A (p.Val194Asp) single nucleotide variant Pathogenic rs104893645 GRCh37 Chromosome 2, 20205714: 20205714
7 MATN3 NM_002381.4(MATN3): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic rs104893637 GRCh37 Chromosome 2, 20205934: 20205934
8 MATN3 NM_002381.4(MATN3): c.656C> A (p.Ala219Asp) single nucleotide variant Pathogenic rs28939677 GRCh37 Chromosome 2, 20205639: 20205639
9 MATN3 NM_002381.4(MATN3): c.209G> A (p.Arg70His) single nucleotide variant Pathogenic rs104893640 GRCh37 Chromosome 2, 20212184: 20212184
10 MATN3 NM_002381.4(MATN3): c.382G> C (p.Ala128Pro) single nucleotide variant Pathogenic rs104893641 GRCh37 Chromosome 2, 20205913: 20205913
11 COMP NM_000095.2(COMP): c.1569C> G (p.Asn523Lys) single nucleotide variant Pathogenic rs137852654 GRCh37 Chromosome 19, 18896582: 18896582
12 COMP NM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp) duplication Pathogenic rs312262898 GRCh37 Chromosome 19, 18896845: 18896847
13 COMP NM_000095.2(COMP): c.2223dupC (p.Asn742Glnfs) duplication Pathogenic rs869320730 GRCh38 Chromosome 19, 18783058: 18783058
14 COMP NM_000095.2(COMP): c.2152C> T (p.Arg718Trp) single nucleotide variant Pathogenic rs28936368 GRCh37 Chromosome 19, 18893939: 18893939
15 COL9A2 COL9A2, IVS3DS, G-C, -1 single nucleotide variant Pathogenic
16 COL9A3 COL9A3, IVS2AS, A-T, -2 single nucleotide variant Pathogenic
17 COL9A3 COL9A3, IVS3DS, G-A, +5 single nucleotide variant Pathogenic
18 COL9A2 COL9A2, IVS3DS, T-C, +2 single nucleotide variant Pathogenic
19 COL9A2 COL9A2, IVS3DS, 186G-A single nucleotide variant Pathogenic
20 COL9A2 COL9A2, IVS3DS, G-C, +5 single nucleotide variant Pathogenic
21 COMP NM_000095.2(COMP): c.1754C> G (p.Thr585Arg) single nucleotide variant Pathogenic rs312262900 GRCh37 Chromosome 19, 18895866: 18895866
22 COMP NM_000095.2(COMP): c.1754C> T (p.Thr585Met) single nucleotide variant Pathogenic rs312262900 GRCh37 Chromosome 19, 18895866: 18895866
23 COMP NM_000095.2(COMP): c.1156_1158delAAC (p.Asn386del) deletion Pathogenic rs397515510 GRCh37 Chromosome 19, 18897438: 18897440
24 COMP NM_000095.2(COMP): c.1665C> A (p.Asn555Lys) single nucleotide variant Pathogenic rs397515511 GRCh37 Chromosome 19, 18896486: 18896486
25 COMP NM_000095.2(COMP): c.1813G> A (p.Asp605Asn) single nucleotide variant Pathogenic rs397515512 GRCh37 Chromosome 19, 18895807: 18895807
26 COMP NM_000095.2(COMP): c.2042C> G (p.Ser681Cys) single nucleotide variant Pathogenic rs397515513 GRCh37 Chromosome 19, 18895046: 18895046
27 COMP NM_000095.2(COMP): c.2153G> C (p.Arg718Pro) single nucleotide variant Pathogenic rs149551600 GRCh37 Chromosome 19, 18893938: 18893938
28 SLC26A2 NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del) deletion Pathogenic/Likely pathogenic rs121908077 GRCh37 Chromosome 5, 149360176: 149360178
29 MATN3 NM_002381.4(MATN3): c.359C> T (p.Thr120Met) single nucleotide variant Pathogenic rs397515546 GRCh37 Chromosome 2, 20205936: 20205936
30 SLC26A2 NM_000112.3(SLC26A2): c.699+2T> C single nucleotide variant Pathogenic rs1057517461 GRCh38 Chromosome 5, 149978353: 149978353
31 COL9A3 NM_001853.3(COL9A3): c.369+2T> C single nucleotide variant Pathogenic rs1057518693 GRCh38 Chromosome 20, 62821532: 62821532

Copy number variations for Multiple Epiphyseal Dysplasia from CNVD:

7 (show all 32)
id 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 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 ACAN COL2A1 COL9A1 COL9A2 COL9A3
2
Show member pathways
12.72 ACAN COL2A1 COL9A1 COL9A2 COL9A3
3
Show member pathways
12.57 COL2A1 COL9A1 COL9A2 COL9A3 COMP
4
Show member pathways
12.48 COL2A1 COL9A1 COL9A2 COL9A3
5 12.19 COL2A1 COL9A1 COL9A2 COL9A3 COMP
6
Show member pathways
12.15 ACAN COL2A1 COL9A1 COL9A2 COL9A3 COMP
7
Show member pathways
11.73 COL2A1 COL9A1 COL9A2 COL9A3 COMP
8 11.51 ACAN COL2A1
9 11.32 ACAN COL2A1
10 11.12 ACAN COL2A1 COMP
11 11.07 COL9A1 COL9A2 COL9A3
12 11.01 COL9A1 COL9A3
13 10.86 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3

GO Terms for Multiple Epiphyseal Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.87 ACAN COL2A1 COL9A1 COL9A2 COL9A3 COMP
2 collagen trimer GO:0005581 9.56 COL2A1 COL9A1 COL9A2 COL9A3
3 endoplasmic reticulum lumen GO:0005788 9.55 COL2A1 COL9A1 COL9A2 COL9A3 MATN3
4 extracellular matrix GO:0031012 9.54 ACAN COL2A1 COMP
5 basement membrane GO:0005604 9.4 ACAN COL2A1
6 proteinaceous extracellular matrix GO:0005578 9.17 ACAN COL2A1 COL9A1 COL9A2 COL9A3 COMP
7 collagen type IX trimer GO:0005594 9.13 COL9A1 COL9A2 COL9A3

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

id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.35 ACAN COL2A1 COL9A2 COMP MATN3
2 ossification GO:0001503 9.26 COL2A1 SLC26A2
3 extracellular matrix organization GO:0030198 9.17 ACAN COL2A1 COL9A1 COL9A2 COL9A3 COMP
4 collagen fibril organization GO:0030199 9.16 ACAN COL2A1

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.26 ACAN COL2A1 COMP MATN3
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL2A1 COL9A1 COL9A2 COL9A3

Sources for Multiple Epiphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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