MCID: MLT007
MIFTS: 51

Multiple Epiphyseal Dysplasia malady

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

Aliases & Classifications for Multiple Epiphyseal Dysplasia

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Aliases & Descriptions for Multiple Epiphyseal Dysplasia:

Name: Multiple Epiphyseal Dysplasia 11 47 25 49 13 67
Epiphyseal Dysplasia, Multiple, 5 25 67
Epiphyseal Dysplasia, Multiple, 4 25 67
Epiphyseal Dysplasia, Multiple, 3 25 67
Epiphyseal Dysplasia, Multiple, 2 25 67
Epiphyseal Dysplasia, Multiple, 1 25 67
Epiphyseal Dysplasia, Multiple 47 26
Osteochondrodysplasias 38 67
Med 47 25
Multiple Epiphyseal Dysplasia, Autosomal Recessive 25
Multiple Epiphyseal Dysplasia, Autosomal Dominant 25
 
Epiphyseal Dysplasia, Fairbank Type 25
Epiphyseal Dysplasia, Ribbing Type 25
Polyepiphyseal Dysplasia 11
Edm4 25
Edm3 25
Edm2 25
Edm1 25
Edm5 25
Rmed 25
Edm 47

Classifications:



External Ids:

Disease Ontology11 DOID:12721
ICD9CM31 756.56
SNOMED-CT61 205504001, 59708000
MeSH38 D010009

Summaries for Multiple Epiphyseal Dysplasia

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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.

MalaCards based summary: Multiple Epiphyseal Dysplasia, also known as epiphyseal dysplasia, multiple, 5, is related to epiphyseal dysplasia, multiple, 4 and osteopetrosis, and has symptoms including round face, sensorineural hearing impairment and anteverted nares. An important gene associated with Multiple Epiphyseal Dysplasia is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways are Gastric cancer network 2 and NCAM1 interactions. Affiliated tissues include hip or, bone and testes, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Disease Ontology:11 An osteochondrodysplasia that has material basis in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.

Related Diseases for Multiple Epiphyseal Dysplasia

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Diseases in the Multiple Epiphyseal Dysplasia family:

Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 5
Epiphyseal Dysplasia, Multiple, 4 Epiphyseal Dysplasia, Multiple, 6
Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 3
Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia, Recessive
Multiple Epiphyseal Dysplasia, Dominant Col9a1-Related Multiple Epiphyseal Dysplasia
Col9a2-Related Multiple Epiphyseal Dysplasia Col9a3-Related Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly

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

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

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



Diseases related to multiple epiphyseal dysplasia

Symptoms for Multiple Epiphyseal Dysplasia

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Symptoms:

 11
  • fatigue
  • joint pain

Human phenotypes related to Multiple Epiphyseal Dysplasia:

 63 (show all 23)
id Description HPO Frequency HPO Source Accession
1 round face63 hallmark (90%) HP:0000311
2 sensorineural hearing impairment63 hallmark (90%) HP:0000407
3 anteverted nares63 hallmark (90%) HP:0000463
4 myopia63 hallmark (90%) HP:0000545
5 abnormality of the metaphyses63 hallmark (90%) HP:0000944
6 brachydactyly syndrome63 hallmark (90%) HP:0001156
7 limitation of joint mobility63 hallmark (90%) HP:0001376
8 delayed skeletal maturation63 hallmark (90%) HP:0002750
9 abnormality of the ulna63 hallmark (90%) HP:0002997
10 abnormality of the wrist63 hallmark (90%) HP:0003019
11 abnormal cortical bone morphology63 hallmark (90%) HP:0003103
12 short palm63 hallmark (90%) HP:0004279
13 abnormality of epiphysis morphology63 hallmark (90%) HP:0005930
14 tarsal synostosis63 hallmark (90%) HP:0008368
15 aplasia/hypoplasia of the sacrum63 hallmark (90%) HP:0008517
16 rough bone trabeculation63 hallmark (90%) HP:0100670
17 malar flattening63 typical (50%) HP:0000272
18 abnormality of the femur63 typical (50%) HP:0002823
19 abnormal form of the vertebral bodies63 typical (50%) HP:0003312
20 short stature63 typical (50%) HP:0004322
21 anonychia63 occasional (7.5%) HP:0001798
22 micromelia63 occasional (7.5%) HP:0002983
23 abnormality of the hip bone63 occasional (7.5%) HP:0003272

UMLS symptoms related to Multiple Epiphyseal Dysplasia:


hip pain, knee pain, arthralgia

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia

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Interventional clinical trials:

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

Search NIH Clinical Center for Multiple Epiphyseal Dysplasia


Cochrane evidence based reviews: osteochondrodysplasias

Genetic Tests for Multiple Epiphyseal Dysplasia

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Genetic tests related to Multiple Epiphyseal Dysplasia:

id Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia26

Anatomical Context for Multiple Epiphyseal Dysplasia

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MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia:

35
Bone, Testes, Heart

FMA organs/tissues related to Multiple Epiphyseal Dysplasia:

17
Hip or

Animal Models for Multiple Epiphyseal Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3COL11A1, COL11A2, COL2A1, COL9A1, COL9A2
2MP:00053828.7COL11A1, COL11A2, COL2A1, DCN, KIF7, SLC26A2
3MP:00053718.6COL11A1, COL2A1, COL9A1, COL9A2, COMP, KIF7
4MP:00053906.8COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COMP

Publications for Multiple Epiphyseal Dysplasia

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Articles related to Multiple Epiphyseal Dysplasia:

(show top 50)    (show all 170)
idTitleAuthorsYear
1
Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family. (28051032)
2017
2
Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation. (26920793)
2016
3
Bilateral Second Carpal Row Duplication Associated with Multiple Epiphyseal Dysplasia. (26649258)
2015
4
Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report. (25381065)
2014
5
Multiple epiphyseal dysplasia. (24640208)
2013
6
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
7
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
8
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. (22587682)
2012
9
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. (21204225)
2011
10
Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test. (22052783)
2011
11
Five patients in a Chinese family with multiple epiphyseal dysplasia. (19781400)
2009
12
Bilateral total hip arthroplasty in subjects with multiple epiphyseal dysplasia. (18789631)
2009
13
What is your diagnosis? Multiple epiphyseal dysplasia. (19180712)
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 in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group. (15880723)
2005
19
Multiple epiphyseal dysplasia in children: beware of overtreatment! (15887789)
2005
20
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. (11968079)
2002
21
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (10405447)
1999
22
Double-layered patella in multiple epiphyseal dysplasia: a valuable clue in the diagnosis. (9449113)
1998
23
A large family with multiple epiphyseal dysplasia linked to COL9A2 gene. (9605591)
1998
24
Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. (9689990)
1998
25
The orthopaedic aspects of multiple epiphyseal dysplasia. (10093815)
1998
26
Stature and severity in multiple epiphyseal dysplasia. (9600570)
1998
27
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (8702126)
1996
28
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. (7490089)
1995
29
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? (7747786)
1995
30
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. (7670472)
1995
31
Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. (7942845)
1994
32
Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. (8279467)
1994
33
Multiple Epiphyseal Dysplasia, Recessive (20301483)
1993
34
Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage. (8465858)
1993
35
Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia. (8094597)
1993
36
Early diagnosis of multiple epiphyseal dysplasia. (1552030)
1992
37
Bilateral femoral head dysplasia and osteochondritis. Multiple epiphyseal dysplasia tarda, spondylo-epiphyseal dysplasia tarda, and bilateral Legg-Perthes disease. (3190947)
1988
38
Legg-Perthes disease versus multiple epiphyseal dysplasia. (3584454)
1987
39
Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. (6409926)
1983
40
Os trigonum syndrome in a patient with multiple epiphyseal dysplasia. (7186916)
1982
41
Multiple epiphyseal dysplasia. (730283)
1978
42
Multiple epiphyseal dysplasia and Turner syndrome variant (45,XO/46,X ring) associated with advanced maternal age. (890113)
1977
43
Rapidly progressive scoliosis in multiple epiphyseal dysplasia. A case report. (932068)
1976
44
Auriculoepiphyseal dysplasia (multiple epiphyseal dysplasia and anomalous auricles): clinical, structural and biochemical studies. (811276)
1975
45
Multiple epiphyseal dysplasia tarda. A family with autosomal recessive inheritance. (4426126)
1974
46
Multiple epiphyseal dysplasia in beagle puppies. (4531191)
1972
47
Multiple epiphyseal dysplasia in a litter of Beagle puppies. (4994640)
1971
48
Multiple epiphyseal dysplasia. Three cases with unusual vertebral abnormalities. (5801124)
1969
49
Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. II. Multiple epiphyseal dysplasia; its relation to other disorders of epiphyseal development. (13217487)
1954
50
Multiple Epiphyseal Dysplasia. (19991793)
1939

Variations for Multiple Epiphyseal Dysplasia

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Clinvar genetic disease variations for Multiple Epiphyseal Dysplasia:

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

Copy number variations for Multiple Epiphyseal Dysplasia from CNVD:

6 (show all 32)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
13942810115018486115018506AmplificationMultiple Epiphyseal Dysplasia
252285111575893415758954AmplificationMultiple Epiphyseal Dysplasia
3536791131845633184744AmplificationMultiple Epiphyseal Dysplasia
499438162646146826461496DeletionMultiple Epiphyseal Dysplasia
5102850165748391057483929DeletionMultiple Epiphyseal Dysplasia
6106008168505521485055662AmplificationMultiple Epiphyseal Dysplasia
7118220177628876876288791AmplificationMultiple Epiphyseal Dysplasia
81351842112821042112821070DeletionMultiple Epiphyseal Dysplasia
91362772128814416128814555AmplificationMultiple Epiphyseal Dysplasia
10161380221852995318529978DeletionMultiple Epiphyseal Dysplasia
11161381221853062918530648DeletionMultiple Epiphyseal Dysplasia
12161382221853125018531269DeletionMultiple Epiphyseal Dysplasia
13163174222513880025138821DeletionMultiple Epiphyseal Dysplasia
141683863129646964129647007AmplificationMultiple Epiphyseal Dysplasia
151738713196980441196980460DeletionMultiple Epiphyseal Dysplasia
161971665175951772175952237AmplificationMultiple Epiphyseal Dysplasia
17201899574253637425390DeletionMultiple Epiphyseal Dysplasia
18203719617000000MicrodeletionMultiple Epiphyseal Dysplasia
19205380612576741259993DeletionFOXQ1Multiple Epiphyseal Dysplasia
20205876613350671340832DeletionFOXF2Multiple Epiphyseal Dysplasia
21207398615556791559128DeletionFOXC1Multiple Epiphyseal Dysplasia
222090556237100296355LossDUSP22Multiple Epiphyseal Dysplasia
2320919462503516825035187DeletionMultiple Epiphyseal Dysplasia
24209531626397272639800AmplificationMultiple Epiphyseal Dysplasia
25209532626397902639903AmplificationMultiple Epiphyseal Dysplasia
262117516336751356443LossIRF4Multiple Epiphyseal Dysplasia
2721593968343708983437111AmplificationMultiple Epiphyseal Dysplasia
282194077126686884126686912DeletionMultiple Epiphyseal Dysplasia
2922585975139810251398130DeletionMultiple Epiphyseal Dysplasia
302353908143598819143598899AmplificationMultiple Epiphyseal Dysplasia
31257729X108403340108403362DeletionMultiple Epiphyseal Dysplasia
32262359X34526473452672DeletionMultiple Epiphyseal Dysplasia

Expression for genes affiliated with Multiple Epiphyseal Dysplasia

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

Pathways for genes affiliated with Multiple Epiphyseal Dysplasia

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

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.9COL9A1, COL9A3
29.6COL9A1, COL9A2, COL9A3
39.1ACAN, COL2A1, DCN
4
Show member pathways
9.0COL2A1, COL9A1, COL9A2, COL9A3, COMP
59.0COL2A1, COL9A1, COL9A2, COL9A3, COMP
68.8ACAN, COL2A1, COMP, DCN
7
Show member pathways
8.2COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
88.2COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
98.0ACAN, COL9A1, COL9A2, COL9A3, COMP, DCN
10
Show member pathways
8.0COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
11
Show member pathways
7.8ACAN, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2
12
Show member pathways
7.8ACAN, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2
13
Show member pathways
6.7ACAN, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2

GO Terms for genes affiliated with Multiple Epiphyseal Dysplasia

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

idNameGO IDScoreTop Affiliating Genes
1collagen type IX trimerGO:000559410.2COL9A1, COL9A2, COL9A3
2collagen type XI trimerGO:000559210.1COL11A1, COL11A2
3collagen trimerGO:00055819.7COL11A1, COL11A2, COL2A1
4endoplasmic reticulum lumenGO:00057888.4COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
5extracellular matrixGO:00310128.3ACAN, COL11A1, COL2A1, COMP, DCN
6proteinaceous extracellular matrixGO:00055787.1ACAN, COL11A1, COL2A1, COL9A1, COL9A2, COL9A3
7extracellular regionGO:00055766.7ACAN, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1chondrocyte developmentGO:000206310.1ACAN, COL11A1
2tissue homeostasisGO:000189410.1COL11A2, COL2A1
3proteoglycan metabolic processGO:000602910.1COL11A1, COL2A1
4cartilage condensationGO:000150210.0COL11A1, COL2A1
5chondrocyte differentiationGO:00020629.8COL11A2, COL2A1, COL9A1
6skeletal system morphogenesisGO:00487059.6COL11A1, COL11A2, COL2A1
7animal organ morphogenesisGO:00098879.5COL9A1, COMP, DCN
8collagen catabolic processGO:00305749.5COL11A1, COL11A2, COL2A1
9cartilage developmentGO:00512169.4COL11A1, COL11A2, COL2A1
10ossificationGO:00015039.1COL11A1, COL11A2, COL2A1, SLC26A2
11sensory perception of soundGO:00076058.9COL11A1, COL11A2, COL2A1
12collagen fibril organizationGO:00301998.6ACAN, COL11A1, COL11A2, COL2A1
13skeletal system developmentGO:00015018.5ACAN, COL11A2, COL2A1, COL9A2, COMP, MATN3
14extracellular matrix organizationGO:00301987.2ACAN, COL11A1, COL2A1, COL9A1, COL9A2, COL9A3

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:00508409.3COL11A1, DCN
2extracellular matrix structural constituentGO:00052019.0ACAN, COL11A1, COMP, MATN3
3extracellular matrix structural constituent conferring tensile strengthGO:00300208.8COL11A2, COL2A1, COL9A1, COL9A2, COL9A3

Sources for Multiple Epiphyseal Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet