MCID: MLT007
MIFTS: 65

Multiple Epiphyseal Dysplasia malady

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

Summaries for Multiple Epiphyseal Dysplasia

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NIH Rare Diseases:43 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, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. both types have relatively mild signs and symptoms, which may include joint pain that most commonly affects the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. recessive med is additionally characterized by malformations of the hands, feet, and knees; scoliosis; and other abnormalities. the majority of individuals are diagnosed during childhood, but some 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: 5/12/2011

MalaCards based summary: Multiple Epiphyseal Dysplasia, also known as multiple epiphyseal dysplasia, autosomal recessive, is related to pseudoachondroplasia and multiple epiphyseal dysplasia, dominant, and has symptoms including round face, sensorineural hearing impairment and anteverted nares. An important gene associated with Multiple Epiphyseal Dysplasia is MATN3 (matrilin 3), and among its related pathways are Gastric cancer network 2 and NCAM signaling for neurite out-growth. The compounds pentosidine and neurocan have been mentioned in the context of this disorder. Affiliated tissues include hip or, bone and heart, and related mouse phenotypes are hearing/vestibular/ear and muscle.

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:65 Fairbanks disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form?1 in... more...

Aliases & Classifications for Multiple Epiphyseal Dysplasia

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Multiple Epiphyseal Dysplasia, Aliases & Descriptions:

Name: Multiple Epiphyseal Dysplasia 10 43 23 12 45 62
Multiple Epiphyseal Dysplasia, Autosomal Recessive 23 62
Polyepiphyseal Dysplasia 10 43
Edm5 23 62
Edm2 23 62
Edm1 23 62
Edm3 23 62
Edm4 23 62
Med 43 23
Multiple Epiphyseal Dysplasia, Autosomal Dominant 23
 
Epiphyseal Dysplasia, Fairbank Type 23
Epiphyseal Dysplasia, Ribbing Type 23
Epiphyseal Dysplasia, Multiple, 3 23
Epiphyseal Dysplasia, Multiple, 5 23
Epiphyseal Dysplasia, Multiple, 2 23
Epiphyseal Dysplasia, Multiple, 1 23
Epiphyseal Dysplasia, Multiple, 4 23
Epiphyseal Dysplasia, Multiple 43
Rmed 23
Edm 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


External Ids:

Disease Ontology10 DOID:12721
ICD9CM29 756.56
SNOMED-CT57 59708000, 205504001
MeSH35 D010009

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, 3 Epiphyseal Dysplasia, Multiple 1
Multiple Epiphyseal Dysplasia, Dominant Multiple Epiphyseal Dysplasia, Recessive
Localized Epiphyseal Dysplasia Col9a2-Related Multiple Epiphyseal Dysplasia
Col9a3-Related Multiple Epiphyseal Dysplasia Col9a1-Related Multiple Epiphyseal Dysplasia

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

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoachondroplasia31.2MATN3, COL9A1, COL9A3, COL9A2, COMP
2multiple epiphyseal dysplasia, dominant30.7COL9A1, COMP, COL9A2, MATN3, COL9A3
3osteochondritis dissecans30.5COL9A1, ACAN, COL9A3, COL9A2
4diastrophic dysplasia30.4COL9A2, COL2A1, COL9A3, SLC26A2, MATN3, COMP
5arthropathy30.3COMP, ACAN, DCN, COL2A1
6metaphyseal dysplasia30.3CRELD2, COL2A1
7achondroplasia30.2ACAN, COL2A1, COMP
8arthritis30.2ACAN, COL2A1
9brachydactyly30.2COMP, COL2A1
10dwarfism30.1COMP, ACAN, COL2A1
11myopia30.1DCN, COL2A1, COL11A1, COL11A2
12osteoarthritis30.0COMP, MATN3, DCN, ACAN, COL9A2, COL2A1
13epiphyseal dysplasia, multiple, 410.7
14epiphyseal dysplasia, multiple 110.6
15epiphyseal dysplasia, multiple, 510.5
16epiphyseal dysplasia, multiple, with myopia and deafness10.5
17multiple epiphyseal dysplasia, lowry type10.5
18epiphyseal dysplasia, multiple, 210.4
19wolcott-rallison syndrome10.4
20myopathy10.4
21multiple epiphyseal dysplasia, recessive10.4
22macrocephaly with multiple epiphyseal dysplasia and distinctive facies10.4
23epiphyseal dysplasia, multiple, 310.4
24fairbank disease10.4
25multiple epiphyseal dysplasia, al-gazali type10.4
26multiple epiphyseal dysplasia, beighton type10.4
27refsum disease10.3
28lowry wood syndrome10.3
29col9a2-related multiple epiphyseal dysplasia10.3
30col9a3-related multiple epiphyseal dysplasia10.3
31col9a1-related multiple epiphyseal dysplasia10.3
32multiple epiphyseal dysplasia, with miniepiphyses10.3
33multiple epiphyseal dysplasia, with severe proximal femoral dysplasia10.3
34relapsing-remitting multiple sclerosis10.3
35leukoplakia10.2
36oral leukoplakia10.2
37medulloblastoma10.2
38epiphyseal dysplasia, multiple, 610.1
39desbuquois dysplasia10.1
40mucopolysaccharidosis iva10.1
41tendinopathy10.1
42cataract10.1
43osteopetrosis10.1
44microcephaly10.1
45congenital nystagmus10.1
46scoliosis10.1
47turner syndrome10.1
48leukonychia totalis10.1
49mental retardation10.1
50cerebellar ataxia10.1

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 the epiphyses 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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Drug clinical trials:

Search ClinicalTrials for Multiple Epiphyseal Dysplasia

Search NIH Clinical Center for Multiple Epiphyseal Dysplasia

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, Heart, Testes

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:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5COL11A2, COL9A1, COL2A1, COL11A1, ACAN
2MP:00053698.2COMP, DCN, CD36, ACAN, KIF7
3MP:00053888.2ACAN, DCN, KIF7, COL11A1, COL2A1
4MP:00053718.0COL11A1, COL2A1, COL9A1, MATN3, KIF7, COMP
5MP:00053917.8COL2A1, CD36, KIF7, COL9A1, DCN
6MP:00053827.8ACAN, DCN, SLC26A2, KIF7, COL11A1, COL2A1
7MP:00053817.5COL2A1, ACAN, DCN, CD36, KIF7, COL11A1
8MP:00053787.3COL2A1, DCN, MATN3, CD36, SLC26A2, COMP
9MP:00053877.2MATN3, COL9A1, DCN, COL2A1, COL11A1, COMP
10MP:00053906.2SLC26A2, DCN, ACAN, COL11A2, COMP, COL11A1

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:

7 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC26A2NM_000112.3(SLC26A2): c.835C> T (p.Arg279Trp)single nucleotide variantPathogenicrs104893915GRCh37Chr 5, 149359991: 149359991
2SLC26A2NM_000112.3(SLC26A2): c.1957T> A (p.Cys653Ser)single nucleotide variantPathogenicrs104893924GRCh37Chr 5, 149361113: 149361113
3COMPNM_000095.2(COMP): c.1754C> G (p.Thr585Arg)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
4COMPNM_000095.2(COMP): c.1754C> T (p.Thr585Met)single nucleotide variantPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
5COMPNM_000095.2(COMP): c.1156_1158delAAC (p.Asn386del)deletionPathogenicrs397515510GRCh37Chr 19, 18897438: 18897440
6COMPNM_000095.2(COMP): c.1665C> A (p.Asn555Lys)single nucleotide variantPathogenicrs397515511GRCh37Chr 19, 18896486: 18896486
7COMPNM_000095.2(COMP): c.1813G> A (p.Asp605Asn)single nucleotide variantPathogenicrs397515512GRCh37Chr 19, 18895807: 18895807
8COMPNM_000095.2(COMP): c.2042C> G (p.Ser681Cys)single nucleotide variantPathogenicrs397515513GRCh37Chr 19, 18895046: 18895046
9COMPNM_000095.2(COMP): c.2153G> C (p.Arg718Pro)single nucleotide variantPathogenicrs149551600GRCh37Chr 19, 18893938: 18893938
10MATN3NM_002381.4(MATN3): c.359C> T (p.Thr120Met)single nucleotide variantPathogenicrs397515546GRCh37Chr 2, 20205936: 20205936
11MATN3NM_002381.4(MATN3): c.581T> A (p.Val194Asp)single nucleotide variantPathogenicrs104893645GRCh37Chr 2, 20205714: 20205714
12MATN3NM_002381.4(MATN3): c.361C> T (p.Arg121Trp)single nucleotide variantPathogenicrs104893637GRCh37Chr 2, 20205934: 20205934
13MATN3NM_002381.4(MATN3): c.656C> A (p.Ala219Asp)single nucleotide variantPathogenicrs28939677GRCh37Chr 2, 20205639: 20205639
14MATN3NM_002381.4(MATN3): c.209G> A (p.Arg70His)single nucleotide variantPathogenicrs104893640GRCh37Chr 2, 20212184: 20212184
15MATN3NM_002381.4(MATN3): c.382G> C (p.Ala128Pro)single nucleotide variantPathogenicrs104893641GRCh37Chr 2, 20205913: 20205913
16COMPNM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp)duplicationPathogenicrs312262898GRCh37Chr 19, 18896845: 18896859
17COMPNM_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/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9COL9A3, COL9A1
2
Show member pathways
9.6COL9A1, COL9A3, COL9A2
39.4CD36, COMP
49.4COL9A2, COL9A3, COL9A1, COMP
5
Show member pathways
9.4DCN, SLC26A2, ACAN
69.0COL2A1, COL11A2, COL11A1
79.0COMP, COL2A1, DCN, ACAN
8
Show member pathways
8.8COL9A3, COL9A1, CD36, COL9A2
98.8COL11A2, COL11A1, COMP, COL2A1
108.3COL9A2, COL9A1, COL9A3, MATN3, DCN, ACAN
11
Show member pathways
8.2COL9A1, COL9A3, COL2A1, COL11A1, COL9A2, COL11A2
128.2COL11A2, COL9A3, COL9A1, COL11A1, COL9A2, COL2A1
13
Show member pathways
8.2COL9A3, COL11A1, COL9A2, COL11A2, COL2A1, COL9A1
14
Show member pathways
8.2COL2A1, COL11A2, COL9A2, COL11A1, COL9A1, COL9A3
15
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
8.0COMP, COL11A2, CD36, COL2A1, COL11A1
16
Show member pathways
7.3CD36, COL9A3, COL2A1, COL11A1, COL9A1, COL9A2
17
Show member pathways
6.9MATN3, COL2A1, DCN, ACAN, COL11A2, COL9A2

Compounds for genes affiliated with Multiple Epiphyseal Dysplasia

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Sources:
45Novoseek, 26HMDB, 13DrugBank, 51PharmGKB, 30IUPHAR
See all sources

Compounds related to Multiple Epiphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1pentosidine459.9ACAN, COMP, COL2A1
2neurocan459.8ACAN, DCN
3dermatan45 2610.8ACAN, DCN
4safranin o459.6ACAN, CD36
5polyglycolic acid459.5ACAN, CD36
6chitosan459.4CD36, ACAN
7deoxypyridinoline459.4CD36, COMP
8pyridinoline459.4COMP, COL2A1, CD36
9chondroitin45 2610.3ACAN, DCN
10agarose459.3DCN, ACAN, COMP, COL2A1
11dermatan sulfate459.2CD36, COMP, DCN
12titanium459.2DCN, CD36
13sulfate45 2610.1DCN, ACAN, COMP, COL2A1, SLC26A2
14hydroxyproline45 26 1311.1CD36, COL2A1, DCN
15vitamin d459.0CD36, COL2A1, COMP, ACAN
16ascorbic acid45 2610.0CD36, COL2A1, ACAN
17keratan sulfate458.9DCN, ACAN, COMP, CD36
18chondroitin sulfate45 269.9CD36, COMP, ACAN, DCN
19tgf beta1458.9CD36, COMP, ACAN, DCN
20hyaluronic acid45 269.9DCN, ACAN, COMP, CD36
21oligonucleotide458.6DCN, COMP, COL11A1, COL2A1
22alginate458.6CD36, COL2A1, COMP, ACAN, DCN
23procollagen458.6DCN, ACAN, COMP, COL2A1, CD36
24glycosaminoglycan458.6CD36, COL2A1, COMP, ACAN, DCN
25cysteine458.5DCN, COMP, COL2A1, CD36, SLC26A2
26dexamethasone45 51 30 1311.4DCN, ACAN, COL2A1, CD36, SLC26A2
27retinoic acid45 269.4CD36, COL2A1, COMP, ACAN, DCN

GO Terms for genes affiliated with Multiple Epiphyseal Dysplasia

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Cellular components related to Multiple Epiphyseal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.7ACAN, COMP, MATN3
2collagen type IXGO:00055949.6COL9A1, COL9A3, COL9A2
3collagen type XIGO:00055929.3COL11A2, COL11A1
4extracellular matrixGO:00310129.1COMP, ACAN, DCN
5endoplasmic reticulum lumenGO:00057888.2COL9A3, COL2A1, COL11A1, COL9A2, COL11A2, COL9A1
6extracellular regionGO:00055767.0MATN3, DCN, ACAN, COL11A2, COMP, COL9A2

Biological processes related to Multiple Epiphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1growth plate cartilage developmentGO:000341710.1COMP, COL9A1
2organ morphogenesisGO:00098879.6COL9A1, COMP, DCN
3proteoglycan metabolic processGO:00060299.5COL2A1, COL11A1
4tissue homeostasisGO:00018949.5COL9A1, COL2A1
5cartilage condensationGO:00015029.5COL2A1, COL11A1
6glycosaminoglycan metabolic processGO:00302039.4SLC26A2, ACAN, DCN
7axon guidanceGO:00074119.4COL9A2, COL2A1, COL9A3, COL9A1
8collagen fibril organizationGO:00301999.2COL2A1, COL11A1, COL11A2
9sensory perception of soundGO:00076058.9COL11A2, COL11A1, COL2A1
10skeletal system developmentGO:00015018.8ACAN, COL11A2, COMP, COL9A2, COL2A1, MATN3
11collagen catabolic processGO:00305748.4COL11A2, COL9A2, COL11A1, COL2A1, COL9A3, COL9A1
12extracellular matrix disassemblyGO:00226177.6DCN, ACAN, COL11A2, COL9A2, COL11A1, COL2A1
13extracellular matrix organizationGO:00301987.1MATN3, DCN, ACAN, COL9A1, COL9A3, COL2A1

Molecular functions related to Multiple Epiphyseal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:00508409.3COL11A1, DCN
2extracellular matrix structural constituentGO:00052018.8MATN3, ACAN, COMP, COL11A1
3extracellular matrix structural constituent conferring tensile strengthGO:00300208.7COL9A3, COL11A2, COL9A2, COL2A1, COL9A1

Products for genes affiliated with Multiple Epiphyseal Dysplasia

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  • Antibodies
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Sources for Multiple Epiphyseal Dysplasia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet