MCID: MLT007
MIFTS: 53

Multiple Epiphyseal Dysplasia malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Multiple Epiphyseal Dysplasia

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Aliases & Descriptions for Multiple Epiphyseal Dysplasia:

Name: Multiple Epiphyseal Dysplasia 10 45 23 47 12 65
Epiphyseal Dysplasia, Multiple, 3 23 65
Epiphyseal Dysplasia, Multiple, 1 23 65
Epiphyseal Dysplasia, Multiple, 5 23 65
Epiphyseal Dysplasia, Multiple, 2 23 65
Epiphyseal Dysplasia, Multiple, 4 23 65
Med 45 23
Multiple Epiphyseal Dysplasia, Autosomal Recessive 23
Multiple Epiphyseal Dysplasia, Autosomal Dominant 23
Epiphyseal Dysplasia, Fairbank Type 23
Epiphyseal Dysplasia, Ribbing Type 23
 
Epiphyseal Dysplasia, Multiple 45
Polyepiphyseal Dysplasia 10
Osteochondrodysplasias 36
Edm5 23
Edm2 23
Edm4 23
Edm3 23
Edm1 23
Rmed 23
Edm 45


Classifications:



External Ids:

Disease Ontology10 DOID:12721
MeSH36 D010009
SNOMED-CT59 205504001, 59708000
ICD9CM29 756.56

Summaries for Multiple Epiphyseal Dysplasia

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NIH Rare Diseases:45 Multiple epiphyseal dysplasia (med) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). there are two types of med, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. signs and symptoms may include joint pain in the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. recessive med may also cause malformations of the hands, feet, and knees; scoliosis; or other abnormalities. most people are diagnosed during childhood, but mild cases may not be diagnosed until adulthood. dominant med is caused by mutations in the comp, col9a1, col9a2, col9a3, or matn3 genes (or can be of unknown cause), and recessive med is caused by mutations in the slc26a2 gene. last updated: 6/3/2015

MalaCards based summary: Multiple Epiphyseal Dysplasia, also known as epiphyseal dysplasia, multiple, 3, is related to epiphyseal dysplasia, multiple, 4 and multiple epiphyseal dysplasia, recessive, 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 (Anion Exchanger), Member 2), and among its related pathways are NCAM1 interactions and Amoebiasis. Affiliated tissues include hip or, bone and testes, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Disease Ontology:10 An osteochondrodysplasia that has material basis in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. the disease has symptom fatigue, has symptom joint pain.

Genetics Home Reference:23 Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood.

Wikipedia:68 Fairbanks disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form—1... more...

Related Diseases for Multiple Epiphyseal Dysplasia

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Diseases in the Multiple Epiphyseal Dysplasia family:

Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 5
Epiphyseal Dysplasia, Multiple, 4 Epiphyseal Dysplasia, Multiple, 6
Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 3
Multiple Epiphyseal Dysplasia, Dominant Multiple Epiphyseal Dysplasia, Recessive
Localized Epiphyseal Dysplasia 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 467)
idRelated DiseaseScoreTop Affiliating Genes
1epiphyseal dysplasia, multiple, 431.6COMP, SLC26A2
2multiple epiphyseal dysplasia, recessive30.9COL9A1, COL9A2, COL9A3, COMP, MATN3
3diastrophic dysplasia30.8COL2A1, COMP, SLC26A2
4cataract30.5ACAN, COL2A1, COMP
5osteochondritis dissecans30.5ACAN, COL2A1, COL9A1, COMP, MATN3
6epiphyseal dysplasia, multiple, 130.4ACAN, COL2A1, COL9A1, COL9A2, COL9A3, COMP
7spondyloepimetaphyseal dysplasia30.3ACAN, COL2A1, MATN3
8otospondylomegaepiphyseal dysplasia30.2COL11A1, COL11A2, COL2A1
9distal arthrogryposis30.2COL9A2, COMP, SLC26A2
10weissenbacher-zweymuller syndrome30.2COL11A2, COL2A1
11osteonecrosis30.0ACAN, COL2A1
12kniest dysplasia29.9COL11A1, COL2A1, COMP, EIF2AK3
13achondrogenesis, type ii or hypochondrogenesis29.9ACAN, COL11A1, COL2A1, COMP
14achondrogenesis ib29.9DCN, SLC26A2
15hypochondrogenesis29.8COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
16metaphyseal chondrodysplasia, schmid type29.7CRELD2, EIF2AK3, MATN3
17pseudoachondroplasia10.8
18osteochondrodysplasia10.8
19epiphyseal dysplasia, multiple, 510.7
20epiphyseal dysplasia, multiple, 310.5
21multiple epiphyseal dysplasia, lowry type10.5
22epiphyseal dysplasia, multiple, 210.5
23macrocephaly with multiple epiphyseal dysplasia and distinctive facies10.5
24multiple epiphyseal dysplasia, dominant10.5
25epiphyseal dysplasia, multiple, 610.5
26myopathy10.5
27multiple epiphyseal dysplasia, al-gazali type10.5
28multiple epiphyseal dysplasia, beighton type10.5
29hypertrichotic osteochondrodysplasia10.4
30wolcott-rallison syndrome10.4
31col9a1-related multiple epiphyseal dysplasia10.4
32col9a2-related multiple epiphyseal dysplasia10.4
33col9a3-related multiple epiphyseal dysplasia10.4
34multiple epiphyseal dysplasia, with miniepiphyses10.4
35multiple epiphyseal dysplasia, with severe proximal femoral dysplasia10.4
36multiple epiphyseal dysplasia due to collagen 9 anomaly10.4
37refsum disease10.3
38epiphyseal dysplasia, multiple, with myopia and deafness10.3
39fairbank disease10.3
40hypertrichosis10.3
41autoimmune disease of central nervous system10.3COL2A1, COL9A3
42benign focal amyotrophy10.3COL9A2, COL9A3
43faye-petersen-ward-carey syndrome10.3
44brachydactyly, type a1, c10.2COL2A1, COMP
45exercise-induced hyperinsulinism10.2COL9A1, COL9A2, COL9A3
46medulloblastoma10.2
47relapsing-remitting multiple sclerosis10.2
48marshall syndrome10.2COL11A1, COL2A1
49skeletal dysplasias10.2
50neurogenic arthropathy10.2DCN, MATN3

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



Diseases related to multiple epiphyseal dysplasia

Symptoms for Multiple Epiphyseal Dysplasia

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Symptoms:

 10
  • fatigue
  • joint pain

HPO human phenotypes related to Multiple Epiphyseal Dysplasia:

(show all 23)
id Description Frequency HPO Source Accession
1 round face hallmark (90%) HP:0000311
2 sensorineural hearing impairment hallmark (90%) HP:0000407
3 anteverted nares hallmark (90%) HP:0000463
4 myopia hallmark (90%) HP:0000545
5 abnormality of the metaphyses hallmark (90%) HP:0000944
6 brachydactyly syndrome hallmark (90%) HP:0001156
7 limitation of joint mobility hallmark (90%) HP:0001376
8 delayed skeletal maturation hallmark (90%) HP:0002750
9 abnormality of the ulna hallmark (90%) HP:0002997
10 abnormality of the wrist hallmark (90%) HP:0003019
11 abnormal cortical bone morphology hallmark (90%) HP:0003103
12 short palm hallmark (90%) HP:0004279
13 abnormality of epiphysis morphology hallmark (90%) HP:0005930
14 tarsal synostosis hallmark (90%) HP:0008368
15 aplasia/hypoplasia of the sacrum hallmark (90%) HP:0008517
16 rough bone trabeculation hallmark (90%) HP:0100670
17 malar flattening typical (50%) HP:0000272
18 abnormality of the femur typical (50%) HP:0002823
19 abnormal form of the vertebral bodies typical (50%) HP:0003312
20 short stature typical (50%) HP:0004322
21 anonychia occasional (7.5%) HP:0001798
22 micromelia occasional (7.5%) HP:0002983
23 abnormality of the hip bone occasional (7.5%) HP:0003272

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip DiseaseCompletedNCT01707433

Search NIH Clinical Center for Multiple Epiphyseal Dysplasia


Cochrane evidence based reviews: Osteochondrodysplasias

Genetic Tests for Multiple Epiphyseal Dysplasia

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Anatomical Context for Multiple Epiphyseal Dysplasia

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MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia:

33
Bone, Testes, Heart

FMA organs/tissues related to Multiple Epiphyseal Dysplasia:

16
Hip or

Animal Models for Multiple Epiphyseal Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1ACAN, COL11A1, COL11A2, COL2A1, COL9A1
2MP:00053828.4ACAN, COL11A1, COL11A2, COL2A1, DCN, KIF7
3MP:00053818.4ACAN, COL11A1, COL2A1, DCN, EIF2AK3, KIF7
4MP:00053717.6ACAN, COL11A1, COL2A1, COL9A1, COMP, EIF2AK3
5MP:00053907.3ACAN, COL11A1, COL11A2, COL2A1, COL9A1, COMP

Publications for Multiple Epiphyseal Dysplasia

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Articles related to Multiple Epiphyseal Dysplasia:

(show top 50)    (show all 163)
idTitleAuthorsYear
1
Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report. (25381065)
2014
2
Assessment of skeletal age in multiple epiphyseal dysplasia. (25210941)
2014
3
Multiple epiphyseal dysplasia. (24640208)
2013
4
Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia. (22948526)
2012
5
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. (21204225)
2011
6
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. (20358595)
2010
7
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. (20592910)
2010
8
Total hip replacement in patients with multiple epiphyseal dysplasia with a mean follow-up of 15 years and survival analysis. (20357323)
2010
9
Hemiepiphyseal stapling for angular deformity correction around the knee joint in children with multiple epiphyseal dysplasia. (19098647)
2009
10
Five patients in a Chinese family with multiple epiphyseal dysplasia. (19781400)
2009
11
Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia]. (18487141)
2008
12
What is your diagnosis? Multiple epiphyseal dysplasia. (19180712)
2008
13
An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia. (18338162)
2008
14
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. (18328978)
2008
15
Clinical, radiographic, and pathologic abnormalities in dogs with multiple epiphyseal dysplasia: 19 cases (1991-2005). (18710316)
2008
16
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. (15503005)
2005
17
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
18
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. (15459972)
2004
19
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. (11968079)
2002
20
Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes. (11528506)
2001
21
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. (10655510)
2000
22
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. (10465113)
1999
23
Double-layered patella in multiple epiphyseal dysplasia: a valuable clue in the diagnosis. (9449113)
1998
24
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. (9921895)
1998
25
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (8702126)
1996
26
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). (8528240)
1996
27
Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. (7942845)
1994
28
Multiple Epiphyseal Dysplasia, Recessive (20301483)
1993
29
Multiple Epiphyseal Dysplasia, Dominant (20301302)
1993
30
Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage. (8465858)
1993
31
Early diagnosis of multiple epiphyseal dysplasia. (1552030)
1992
32
A case of multiple epiphyseal dysplasia complicated by unilateral Perthes' disease. (1767660)
1991
33
Multiple epiphyseal dysplasia misdiagnosed as bioinactive growth hormone disorder. (1925729)
1991
34
Avascular necrosis of the hip in multiple epiphyseal dysplasia. (2600173)
1989
35
Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. (6409926)
1983
36
Findings at arthrotomy in a case of double layered patellae associated with multiple epiphyseal dysplasia. (7076836)
1982
37
Os trigonum syndrome in a patient with multiple epiphyseal dysplasia. (7186916)
1982
38
Bilateral femoral head collapse in an adolescent with brachydactyly (multiple epiphyseal dysplasia tarda type 1c). (7334105)
1981
39
Multiple epiphyseal dysplasia: a family study. (515629)
1979
40
Multiple epiphyseal dysplasia. (730283)
1978
41
Multiple epiphyseal dysplasia and Turner syndrome variant (45,XO/46,X ring) associated with advanced maternal age. (890113)
1977
42
Perthes' disease and multiple epiphyseal dysplasia. (917961)
1977
43
Probable multiple epiphyseal dysplasia. (4461073)
1974
44
Osteoarthrosis of the hip joints in multiple epiphyseal dysplasia. (4534821)
1974
45
Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. (5008828)
1972
46
Multiple epiphyseal dysplasia in a litter of Beagle puppies. (4994640)
1971
47
Multiple epiphyseal dysplasia: a report of three cases. (5151277)
1971
48
Multiple epiphyseal dysplasia. Three cases with unusual vertebral abnormalities. (5801124)
1969
49
Multiple epiphyseal dysplasia in two siblings. Histological and biochemical analyses of epiphyseal plate cartilage in one. (4229795)
1967
50
Multiple epiphyseal dysplasia; a report of three cases. (13527648)
1958

Variations for Multiple Epiphyseal Dysplasia

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Clinvar genetic disease variations for Multiple Epiphyseal Dysplasia:

5 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1COL9A3COL9A3, IVS2AS, A-T, -2single nucleotide variantPathogenic
2COL9A3COL9A3, IVS3DS, G-A, +5single nucleotide variantPathogenic
3COL9A2COL9A2, IVS3DS, T-C, +2single nucleotide variantPathogenic
4COL9A2COL9A2, IVS3DS, 186G-Asingle nucleotide variantPathogenic
5COL9A2COL9A2, IVS3DS, G-C, +5single nucleotide variantPathogenic
6COL9A2COL9A2, IVS3DS, G-C, -1single nucleotide variantPathogenic
7SLC26A2NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp)single nucleotide variantPathogenicrs104893915GRCh37Chr 5, 149359991: 149359991
8SLC26A2NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter)single nucleotide variantPathogenicrs104893919GRCh37Chr 5, 149357747: 149357747
9SLC26A2NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val)single nucleotide variantLikely pathogenic, Pathogenicrs104893916GRCh37Chr 5, 149361189: 149361189
10SLC26A2NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser)single nucleotide variantPathogenicrs104893924GRCh37Chr 5, 149361113: 149361113
11COMPNM_000095.2(COMP): c.1754C> G (p.Thr585Arg)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
12COMPNM_000095.2(COMP): c.1754C> T (p.Thr585Met)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
13COMPNM_000095.2(COMP): c.1156_1158delAAC (p.Asn386del)deletionPathogenicrs397515510GRCh37Chr 19, 18897438: 18897440
14COMPNM_000095.2(COMP): c.1665C> A (p.Asn555Lys)single nucleotide variantPathogenicrs397515511GRCh37Chr 19, 18896486: 18896486
15COMPNM_000095.2(COMP): c.1813G> A (p.Asp605Asn)single nucleotide variantPathogenicrs397515512GRCh37Chr 19, 18895807: 18895807
16COMPNM_000095.2(COMP): c.2042C> G (p.Ser681Cys)single nucleotide variantPathogenicrs397515513GRCh37Chr 19, 18895046: 18895046
17COMPNM_000095.2(COMP): c.2153G> C (p.Arg718Pro)single nucleotide variantPathogenicrs149551600GRCh37Chr 19, 18893938: 18893938
18SLC26A2NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del)deletionLikely pathogenic, Pathogenicrs121908077GRCh37Chr 5, 149360176: 149360178
19MATN3NM_002381.4(MATN3): c.359C> T (p.Thr120Met)single nucleotide variantPathogenicrs397515546GRCh37Chr 2, 20205936: 20205936
20MATN3NM_002381.4(MATN3): c.581T> A (p.Val194Asp)single nucleotide variantPathogenicrs104893645GRCh37Chr 2, 20205714: 20205714
21MATN3NM_002381.4(MATN3): c.361C> T (p.Arg121Trp)single nucleotide variantPathogenicrs104893637GRCh37Chr 2, 20205934: 20205934
22MATN3NM_002381.4(MATN3): c.656C> A (p.Ala219Asp)single nucleotide variantPathogenicrs28939677GRCh37Chr 2, 20205639: 20205639
23MATN3NM_002381.4(MATN3): c.209G> A (p.Arg70His)single nucleotide variantPathogenicrs104893640GRCh37Chr 2, 20212184: 20212184
24MATN3NM_002381.4(MATN3): c.382G> C (p.Ala128Pro)single nucleotide variantPathogenicrs104893641GRCh37Chr 2, 20205913: 20205913
25COMPNM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp)duplicationPathogenicrs312262898GRCh37Chr 19, 18896845: 18896847
26COMPNM_000095.2(COMP): c.2152C> T (p.Arg718Trp)single nucleotide variantPathogenicrs28936368GRCh37Chr 19, 18893939: 18893939

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 pathways (with members indented)ScoreTop Affiliating Genes
19.8COL9A1, COL9A2, COL9A3
29.6COL11A1, COL11A2, COL2A1
39.6COL11A1, COL11A2, COL2A1
49.5COL9A1, COL9A2, COL9A3, COMP
59.4COL11A1, COL11A2, COL2A1, COMP
69.3ACAN, COL2A1, COMP, DCN
79.1ACAN, CALM1, COL2A1
8
Show member pathways
8.9COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
98.9COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
108.7ACAN, COL9A1, COL9A2, COL9A3, COMP, DCN
11
Show member pathways
7.8ACAN, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2
12
Show member pathways
7.8ACAN, CALM1, COL11A1, COL11A2, COL2A1, COL9A1
13
Show member pathways
7.8ACAN, CALM1, COL11A1, COL11A2, COL2A1, COL9A1

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 XI trimerGO:000559210.4COL11A1, COL11A2
2collagen type IX trimerGO:000559410.3COL9A1, COL9A2, COL9A3
3collagen trimerGO:00055819.6COL11A1, COL11A2, COL2A1
4extracellular matrixGO:00310128.2ACAN, ADAMTSL1, COL11A1, COL2A1, COMP, DCN
5proteinaceous extracellular matrixGO:00055787.8ACAN, ADAMTSL1, COL11A1, COL2A1, COL9A1, COL9A2
6endoplasmic reticulum lumenGO:00057887.6ADAMTSL1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2
7extracellular regionGO:00055766.9ACAN, CALM1, COL11A1, COL11A2, COL2A1, COL9A1

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1growth plate cartilage developmentGO:000341710.6COL9A1, COMP
2tissue homeostasisGO:000189410.3COL2A1, COL9A1
3proteoglycan metabolic processGO:000602910.2COL11A1, COL2A1
4organ morphogenesisGO:000988710.1COL9A1, COMP, DCN
5glycosaminoglycan metabolic processGO:003020310.0ACAN, DCN, SLC26A2
6cartilage condensationGO:000150210.0ACAN, COL11A1, COL2A1
7sensory perception of soundGO:00076059.9COL11A1, COL11A2, COL2A1
8chondrocyte developmentGO:00020639.9ACAN, COL11A1, EIF2AK3
9cartilage developmentGO:00512169.6COL11A1, COL11A2, COL2A1, COL9A1
10collagen fibril organizationGO:00301999.5ACAN, COL11A1, COL11A2, COL2A1
11ossificationGO:00015039.2COL11A1, COL11A2, COL2A1, EIF2AK3, SLC26A2
12carbohydrate metabolic processGO:00059759.2ACAN, CALM1, DCN, SLC26A2
13collagen catabolic processGO:00305748.8COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
14skeletal system developmentGO:00015018.7ACAN, COL11A2, COL2A1, COL9A2, COMP, EIF2AK3
15axon guidanceGO:00074118.4CALM1, COL2A1, COL9A1, COL9A2, COL9A3
16extracellular matrix disassemblyGO:00226178.3ACAN, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2
17extracellular matrix organizationGO:00301987.8ACAN, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:005084010.1COL11A1, DCN
2extracellular matrix structural constituent conferring tensile strengthGO:00300209.2COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
3extracellular matrix structural constituentGO:00052018.6ACAN, COL11A1, COL11A2, COL2A1, COMP, MATN3
4calcium ion bindingGO:00055098.5ACAN, CALM1, COMP, CRELD2, MATN3

Sources for Multiple Epiphyseal Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet