EDM
MCID: MLT007
MIFTS: 73

Multiple Epiphyseal Dysplasia (EDM) malady

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

Summaries for Multiple Epiphyseal Dysplasia

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Multiple Epiphyseal Dysplasia, also known as epiphyseal dysplasia, multiple, 5, is related to pseudoachondroplasia and multiple epiphyseal dysplasia, dominant, and has symptoms including autosomal recessive inheritance, osteoarthritis and autosomal dominant inheritance. 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 eye, and related mouse phenotypes are hearing/vestibular/ear and muscle.

Disease Ontology:9 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:22 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:66 Fairbanks disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form?1 in... more...

Description from OMIM:48 132400, 600204, 600969, 614135, 226900 607078 more

Aliases & Classifications for Multiple Epiphyseal Dysplasia

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 28ICD9CM, 36MeSH, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
multiple epiphyseal dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy
rmed:
Inheritance: Autosomal recessive
edm1:
Inheritance: Autosomal dominant
edm5:
Inheritance: Autosomal dominant


Aliases & Descriptions:

multiple epiphyseal dysplasia 9 44 22 11 46 50 63
epiphyseal dysplasia, multiple, 5 22 48 63
epiphyseal dysplasia, multiple, 4 22 48 63
epiphyseal dysplasia, multiple, 2 22 48 63
epiphyseal dysplasia, multiple, 3 22 48 63
epiphyseal dysplasia, multiple, 1 22 63
rmed 22 50
edm1 22 50
edm5 22 50
edm4 22 50
med 44 22
multiple epiphyseal dysplasia due to collagen 9 anomaly 50
multiple epiphyseal dysplasia, autosomal recessive 22
multiple epiphyseal dysplasia, autosomal dominant 22
autosomal recessive multiple epiphyseal dysplasia 50
multiple epiphyseal dysplasia type 4 50
multiple epiphyseal dysplasia type 5 50
multiple epiphyseal dysplasia type 1 50
epiphyseal dysplasia, fairbank type 22
epiphyseal dysplasia, ribbing type 22
epiphyseal dysplasia, multiple 1 48
polyepiphyseal dysplasia type 1 50
polyepiphyseal dysplasia type 4 50
polyepiphyseal dysplasia type 5 50
epiphyseal dysplasia, multiple 44
polyepiphyseal dysplasia 50
edm3 22
med4 50
edm2 22
med1 50
med5 50
edm 44


External Ids:

Disease Ontology9 DOID:12721
ICD9CM28 756.56
MeSH36 D010009
SNOMED-CT59 205504001, 59708000
ICD10 via Orphanet27 Q77.3
SNOMED-CT via Orphanet60 59708000
UMLS via Orphanet64 C0026760, C1847593, C1838280 C1846843, more
MESH via Orphanet37 C535504, C535501, C535505

Related Diseases for Multiple Epiphyseal Dysplasia

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Multiple Epiphyseal Dysplasia family:

Multiple Epiphyseal Dysplasia, Dominant Multiple Epiphyseal Dysplasia, Recessive
Localized Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia 1
Multiple Epiphyseal Dysplasia 2 Multiple Epiphyseal Dysplasia 3
Multiple Epiphyseal Dysplasia 4 Multiple Epiphyseal Dysplasia 5
Col9a2-Related Multiple Epiphyseal Dysplasia Col9a3-Related Multiple Epiphyseal Dysplasia
Col9a1-Related Multiple Epiphyseal Dysplasia Epiphyseal Dysplasia, Multiple, 6

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

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoachondroplasia31.2COMP, COL9A2, COL9A3, COL9A1, MATN3
2multiple epiphyseal dysplasia, dominant30.7COMP, COL9A2, COL9A3, COL9A1, MATN3
3osteochondritis dissecans30.5ACAN, COL9A2, COL9A3, COL9A1
4short stature30.4COMP, COL2A1, MATN3, CD36
5diastrophic dysplasia30.4SLC26A2, MATN3, COL9A3, COL2A1, COMP, COL9A2
6metaphyseal dysplasia30.3CRELD2, COL2A1
7achondroplasia30.3ACAN, COMP, COL2A1
8arthropathy30.3DCN, ACAN, COMP, COL2A1
9arthritis30.3COL2A1, ACAN
10brachydactyly30.3COL2A1, COMP
11dwarfism30.1ACAN, COMP, COL2A1
12cleft palate30.1COL2A1, COL11A1, COL11A2
13osteoarthritis29.9COL9A1, MATN3, CD36, COL9A3, COL2A1, DCN
14multiple epiphyseal dysplasia 410.6
15multiple epiphyseal dysplasia, recessive10.5
16myopathy10.4
17multiple epiphyseal dysplasia 110.4
18multiple epiphyseal dysplasia 510.4
19multiple epiphyseal dysplasia, al-gazali type10.4
20multiple epiphyseal dysplasia, lowry type10.4
21multiple epiphyseal dysplasia 210.4
22multiple epiphyseal dysplasia, with miniepiphyses10.4
23multiple epiphyseal dysplasia, with severe proximal femoral dysplasia10.4
24fairbank disease10.3
25lowry wood syndrome10.3
26multiple epiphyseal dysplasia 310.3
27col9a2-related multiple epiphyseal dysplasia10.3
28col9a3-related multiple epiphyseal dysplasia10.3
29col9a1-related multiple epiphyseal dysplasia10.3
30epiphyseal dysplasia, multiple, 610.3
31epiphyseal dysplasia, multiple, with myopia and deafness10.3
32macrocephaly with multiple epiphyseal dysplasia and distinctive facies10.3
33epiphyseal dysplasia, multiple, with myopathy10.3
34relapsing-remitting multiple sclerosis10.2
35multiple sclerosis10.2
36leukoplakia10.2
37oral leukoplakia10.2
38breast cancer10.2
39medulloblastoma10.1
40tendinopathy10.1
41microcephaly10.1
42refsum disease10.1
43congenital nystagmus10.1
44spondyloepiphyseal dysplasia congenita10.1
45osteopetrosis10.1
46mucopolysaccharidosis iv10.1
47vitiligo10.1
48cataract10.1
49diabetes mellitus10.1
50myopia10.1

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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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

132400

Clinical features from OMIM:

132400,600204,600969,614135,226900,607078

Symptoms:

50 (show all 42)
  • autosomal recessive inheritance
  • osteoarthritis
  • autosomal dominant inheritance
  • short limbs/micromelia/brachymelia
  • short hand/brachydactyly
  • abnormal gait
  • articular/joint pain/arthralgia
  • restricted joint mobility/joint stiffness/ankylosis
  • epiphyseal anomaly
  • short stature/dwarfism/nanism
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • scoliosis
  • clinodactyly of fifth finger
  • patella absent/abnormal (excluding luxation)
  • talipes-varus/metatarsal varus
  • joint/articular deformation
  • anomalies of ear and hearing
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • joint pain
  • fatigue
  • genu varum
  • genu valgum
  • round face
  • anomalies of eyes and vision
  • myopia
  • anteverted nares/nostrils
  • sensorineural deafness/hearing loss
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • sacrococcyx agenesis
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • wrist/carpal anomalies
  • flat face
  • abnormal vertebral size/shape
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • absent/small fingernails/anonychia of hands
  • small hand/acromicria
  • tarsal anomaly/fusion/synostosis
  • delayed bone age
  • rough trabeculation of bone
  • metaphyseal anomaly
  • cortical anomaly/thick bone cortical layer
  • anomalies of cartilages, joints and periarticular tissue

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Multiple Epiphyseal Dysplasia

Drug clinical trials:

Search ClinicalTrials for Multiple Epiphyseal Dysplasia

Search NIH Clinical Center for Multiple Epiphyseal Dysplasia

Search CenterWatch for Multiple Epiphyseal Dysplasia

Genetic Tests for Multiple Epiphyseal Dysplasia

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Anatomical Context for Multiple Epiphyseal Dysplasia

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34MalaCards, 15FMA
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MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia:

34
Bone, Eye, Heart, Testes

FMA organs/tissues related to Multiple Epiphyseal Dysplasia:

15
Hip or

Animal Models for Multiple Epiphyseal Dysplasia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5ACAN, COL11A2, COL11A1, COL2A1, COL9A1
2MP:00053698.2CD36, KIF7, COMP, ACAN, DCN
3MP:00053888.2DCN, ACAN, COL11A1, COL2A1, KIF7
4MP:00053718.0ACAN, COMP, COL11A1, COL2A1, COL9A1, MATN3
5MP:00053917.8DCN, COL2A1, COL9A1, KIF7, CD36
6MP:00053827.7DCN, ACAN, COL11A2, COL11A1, COL2A1, KIF7
7MP:00053817.5DCN, ACAN, COL11A1, COL2A1, KIF7, CD36
8MP:00053787.2DCN, ACAN, COL11A2, COMP, COL2A1, MATN3
9MP:00053877.2DCN, ACAN, COMP, COL11A1, COL2A1, COL9A1
10MP:00053906.2SLC26A2, DCN, ACAN, COL11A2, COMP, COL11A1

Publications for Multiple Epiphyseal Dysplasia

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53PubMed
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Articles related to Multiple Epiphyseal Dysplasia:

(show top 50)    (show all 155)
idTitleAuthorsYear
1
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
2
Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia. (22948526)
2012
3
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. (21204225)
2011
4
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. (20358595)
2010
5
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. (20592910)
2010
6
Total hip replacement in patients with multiple epiphyseal dysplasia with a mean follow-up of 15 years and survival analysis. (20357323)
2010
7
Hemiepiphyseal stapling for angular deformity correction around the knee joint in children with multiple epiphyseal dysplasia. (19098647)
2009
8
Five patients in a Chinese family with multiple epiphyseal dysplasia. (19781400)
2009
9
Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia]. (18487141)
2008
10
An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia. (18338162)
2008
11
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. (18328978)
2008
12
Clinical, radiographic, and pathologic abnormalities in dogs with multiple epiphyseal dysplasia: 19 cases (1991-2005). (18710316)
2008
13
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. (15503005)
2005
14
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
15
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. (15459972)
2004
16
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. (11968079)
2002
17
Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes. (11528506)
2001
18
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. (10655510)
2000
19
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. (10465113)
1999
20
Double-layered patella in multiple epiphyseal dysplasia: a valuable clue in the diagnosis. (9449113)
1998
21
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. (9921895)
1998
22
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (8702126)
1996
23
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). (8528240)
1996
24
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. (7490089)
1995
25
Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. (7942845)
1994
26
Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. (8279467)
1994
27
Multiple Epiphyseal Dysplasia, Recessive (20301483)
1993
28
Multiple Epiphyseal Dysplasia, Dominant (20301302)
1993
29
Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage. (8465858)
1993
30
Early diagnosis of multiple epiphyseal dysplasia. (1552030)
1992
31
A case of multiple epiphyseal dysplasia complicated by unilateral Perthes' disease. (1767660)
1991
32
Multiple epiphyseal dysplasia misdiagnosed as bioinactive growth hormone disorder. (1925729)
1991
33
Avascular necrosis of the hip in multiple epiphyseal dysplasia. (2600173)
1989
34
Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. (6409926)
1983
35
Findings at arthrotomy in a case of double layered patellae associated with multiple epiphyseal dysplasia. (7076836)
1982
36
Os trigonum syndrome in a patient with multiple epiphyseal dysplasia. (7186916)
1982
37
Bilateral femoral head collapse in an adolescent with brachydactyly (multiple epiphyseal dysplasia tarda type 1c). (7334105)
1981
38
Multiple epiphyseal dysplasia: a family study. (515629)
1979
39
Multiple epiphyseal dysplasia. (730283)
1978
40
Multiple epiphyseal dysplasia and Turner syndrome variant (45,XO/46,X ring) associated with advanced maternal age. (890113)
1977
41
Perthes' disease and multiple epiphyseal dysplasia. (917961)
1977
42
Multiple epiphyseal dysplasia. 2. Morphological and histochemical investigation of cartilage matrix, particularly in the pre-calcification stage. (1180054)
1975
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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Multiple Epiphyseal Dysplasia:

65 (show all 48)
id Symbol AA change Variation ID SNP ID
1COMPp.Asp342TyrVAR_007617
2COMPp.Asp361ValVAR_007619
3COMPp.Asp361TyrVAR_007620
4COMPp.Cys371SerVAR_007622
5COMPp.Asp408TyrVAR_007627
6COMPp.Asn453SerVAR_007630rs28936668
7COMPp.Asn523LysVAR_007640
8COMPp.Thr585ArgVAR_007642
9COMPp.Pro276ArgVAR_026239
10COMPp.Asp420AlaVAR_026240
11COMPp.Gly167GluVAR_066789
12COMPp.Ser298LeuVAR_066792
13COMPp.Ala311AspVAR_066793
14COMPp.Asp317GlyVAR_066794
15COMPp.Asp326GlyVAR_066795
16COMPp.Cys348PheVAR_066798
17COMPp.Cys371TyrVAR_066800
18COMPp.Asp374AsnVAR_066801
19COMPp.Asp376AsnVAR_066802
20COMPp.Asp385AsnVAR_066804
21COMPp.Asp385TyrVAR_066805
22COMPp.Asp397HisVAR_066808
23COMPp.Gly404ArgVAR_066810
24COMPp.Cys410TyrVAR_066811
25COMPp.Asn415LysVAR_066812
26COMPp.Gly427GluVAR_066813
27COMPp.Gly501AspVAR_066821
28COMPp.Arg718ProVAR_066826
29COMPp.Arg718TrpVAR_066827rs28936368
30MATN3p.Arg121TrpVAR_013691
31MATN3p.Val194AspVAR_013692
32MATN3p.Thr120MetVAR_019882
33MATN3p.Ala128ProVAR_019883
34MATN3p.Glu134LysVAR_019884
35MATN3p.Ile192AsnVAR_019885
36MATN3p.Ala219AspVAR_019886rs28939677
37MATN3p.Phe105SerVAR_020844
38MATN3p.Arg70HisVAR_054807
39MATN3p.Thr195LysVAR_054808
40MATN3p.Tyr218AsnVAR_054809
41MATN3p.Ala173AspVAR_066831
42MATN3p.Arg209ProVAR_066832
43MATN3p.Lys231AsnVAR_066833
44MATN3p.Val245MetVAR_066834rs182164052
45SLC26A2p.Arg279TrpVAR_007435rs104893915
46SLC26A2p.Ala715ValVAR_007439
47SLC26A2p.Cys653SerVAR_018655
48SLC26A2p.Phe256SerVAR_066835

Clinvar genetic disease variations for Multiple Epiphyseal Dysplasia:

1 (show all 17)
id Gene Name 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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Multiple Epiphyseal Dysplasia

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

Pathways for genes affiliated with Multiple Epiphyseal Dysplasia

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51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 55R&D Systems, 54QIAGEN
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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
19.9COL9A1, COL9A3
2
Show member pathways
9.7COL9A2, COL9A3, COL9A1
39.4CD36, COMP
49.4COL9A1, COL9A3, COL9A2, COMP
5
Show member pathways
9.4SLC26A2, ACAN, DCN
69.0COL11A2, COL11A1, COL2A1
79.0DCN, ACAN, COMP, COL2A1
8
Show member pathways
8.8COL9A2, COL9A3, COL9A1, CD36
98.8COL2A1, COL11A1, COMP, COL11A2
108.3DCN, ACAN, COMP, COL9A2, COL9A3, COL9A1
11
Show member pathways
8.2COL11A2, COL9A2, COL11A1, COL2A1, COL9A3, COL9A1
128.2COL11A2, COL9A2, COL11A1, COL2A1, COL9A3, COL9A1
13
Show member pathways
8.2COL11A2, COL9A2, COL11A1, COL2A1, COL9A3, COL9A1
14
Show member pathways
8.2COL9A1, COL9A3, COL2A1, COL11A1, COL9A2, COL11A2
15
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
8.0COL11A2, COMP, COL11A1, COL2A1, CD36
16
Show member pathways
7.4COL11A2, COL9A2, COL11A1, COL2A1, COL9A3, COL9A1
17
Show member pathways
6.9MATN3, DCN, ACAN, COL9A1, COL9A3, COL2A1

Compounds for genes affiliated with Multiple Epiphyseal Dysplasia

About this section
Sources:
46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB, 30IUPHAR
See all sources

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

(show all 27)
idCompoundScoreTop Affiliating Genes
1pentosidine469.9ACAN, COMP, COL2A1
2neurocan469.8ACAN, DCN
3dermatan46 2510.8ACAN, DCN
4safranin o469.6ACAN, CD36
5polyglycolic acid469.5ACAN, CD36
6chitosan469.4CD36, ACAN
7deoxypyridinoline469.4CD36, COMP
8pyridinoline469.4COMP, COL2A1, CD36
9chondroitin46 2510.3ACAN, DCN
10agarose469.3DCN, ACAN, COMP, COL2A1
11dermatan sulfate469.2CD36, COMP, DCN
12titanium469.2DCN, CD36
13sulfate46 2510.1DCN, ACAN, COMP, COL2A1, SLC26A2
14hydroxyproline46 25 1211.1CD36, COL2A1, DCN
15vitamin d469.0CD36, COL2A1, COMP, ACAN
16ascorbic acid46 2510.0CD36, COL2A1, ACAN
17keratan sulfate468.9DCN, ACAN, COMP, CD36
18chondroitin sulfate46 259.9CD36, COMP, ACAN, DCN
19tgf beta1468.9CD36, COMP, ACAN, DCN
20hyaluronic acid46 259.9DCN, ACAN, COMP, CD36
21oligonucleotide468.6DCN, COMP, COL11A1, COL2A1
22alginate468.6CD36, COL2A1, COMP, ACAN, DCN
23procollagen468.6DCN, ACAN, COMP, COL2A1, CD36
24glycosaminoglycan468.6CD36, COL2A1, COMP, ACAN, DCN
25cysteine468.5DCN, COMP, COL2A1, CD36, SLC26A2
26retinoic acid46 259.4CD36, COL2A1, COMP, ACAN, DCN
27dexamethasone46 52 30 1211.4DCN, ACAN, COL2A1, CD36, SLC26A2

GO Terms for genes affiliated with Multiple Epiphyseal Dysplasia

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Sources:
17Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.7MATN3, COMP, ACAN
2collagen type IXGO:0055949.7COL9A1, COL9A3, COL9A2
3collagen type XIGO:0055929.3COL11A2, COL11A1
4extracellular matrixGO:0310129.1COMP, ACAN, DCN
5endoplasmic reticulum lumenGO:0057888.3COL11A2, COL9A2, COL11A1, COL2A1, COL9A3, COL9A1
6extracellular regionGO:0055767.0MATN3, 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:00341710.1COMP, COL9A1
2organ morphogenesisGO:0098879.6COL9A1, COMP, DCN
3proteoglycan metabolic processGO:0060299.5COL2A1, COL11A1
4tissue homeostasisGO:0018949.5COL9A1, COL2A1
5cartilage condensationGO:0015029.5COL2A1, COL11A1
6axon guidanceGO:0074119.4COL9A2, COL2A1, COL9A3, COL9A1
7glycosaminoglycan metabolic processGO:0302039.4SLC26A2, ACAN, DCN
8collagen fibril organizationGO:0301999.2COL2A1, COL11A1, COL11A2
9sensory perception of soundGO:0076058.9COL11A2, COL11A1, COL2A1
10skeletal system developmentGO:0015018.8ACAN, COL11A2, COMP, COL9A2, COL2A1, MATN3
11collagen catabolic processGO:0305748.4COL11A2, COL9A2, COL11A1, COL2A1, COL9A3, COL9A1
12extracellular matrix disassemblyGO:0226177.6DCN, ACAN, COL11A2, COL9A2, COL11A1, COL2A1
13extracellular matrix organizationGO:0301987.2MATN3, DCN, ACAN, COL9A1, COL9A3, COL2A1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:0508409.3COL11A1, DCN
2extracellular matrix structural constituentGO:0052018.8ACAN, COMP, COL11A1, MATN3
3extracellular matrix structural constituent conferring tensile strengthGO:0300208.7COL9A1, COL9A3, COL2A1, COL9A2, COL11A2

Products for genes affiliated with Multiple Epiphyseal Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Epiphyseal Dysplasia

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet