EDM
MCID: MLT007
MIFTS: 63

Multiple Epiphyseal Dysplasia (EDM) malady

Bone, Fetal categories

Summaries for Multiple Epiphyseal Dysplasia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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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: Multiple Epiphyseal Dysplasia, also known as epiphyseal dysplasia, multiple, 5, is related to pseudoachondroplasia and multiple epiphyseal dysplasia, dominant, and has symptoms including genu valgum, genu valgum and genu valgum. An important gene associated with Multiple Epiphyseal Dysplasia is COMP (cartilage oligomeric matrix protein), and among its related pathways are Multifunctional anion exchangers and Cytosolic sulfonation of small molecules. The compounds oxalate and pentosidine have been mentioned in the context of this disorder. Affiliated tissues include hip or and heart, and related mouse phenotypes are hearing/vestibular/ear and respiratory system.

Disease Ontology:8 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:21 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:64 Fairbanks disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form—1... more...

Description from OMIM:47 132400, 600204, 600969, 614135, 226900 607078 more

Aliases & Classifications for Multiple Epiphyseal Dysplasia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 27ICD9CM, 57SNOMED-CT, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
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 8 43 21 10 45 49 61
epiphyseal dysplasia, multiple, 5 21 47 61
epiphyseal dysplasia, multiple, 4 21 47 61
epiphyseal dysplasia, multiple, 2 21 47 61
epiphyseal dysplasia, multiple, 3 21 47 61
epiphyseal dysplasia, multiple, 1 21 61
rmed 21 49
edm1 21 49
edm5 21 49
edm4 21 49
med 43 21
multiple epiphyseal dysplasia due to collagen 9 anomaly 49
multiple epiphyseal dysplasia, autosomal recessive 21
multiple epiphyseal dysplasia, autosomal dominant 21
autosomal recessive multiple epiphyseal dysplasia 49
multiple epiphyseal dysplasia type 4 49
multiple epiphyseal dysplasia type 5 49
multiple epiphyseal dysplasia type 1 49
epiphyseal dysplasia, fairbank type 21
epiphyseal dysplasia, ribbing type 21
epiphyseal dysplasia, multiple 1 47
polyepiphyseal dysplasia type 1 49
polyepiphyseal dysplasia type 4 49
polyepiphyseal dysplasia type 5 49
epiphyseal dysplasia, multiple 43
polyepiphyseal dysplasia 49
edm3 21
med4 49
edm2 21
med1 49
med5 49
edm 43


External Ids:

Disease Ontology8 DOID:12721
MeSH35 D010009
ICD9CM27 756.56
SNOMED-CT57 205504001, 59708000
ICD10 via Orphanet26 Q77.3
SNOMED-CT via Orphanet58 59708000
UMLS via Orphanet62 C0026760, C1847593, C1838280 C1846843, more
MESH via Orphanet36 C535504, C535501, C535505

Related Diseases for Multiple Epiphyseal Dysplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Multiple Epiphyseal Dysplasia family:

multiple epiphyseal dysplasia, dominant multiple epiphyseal dysplasia, recessive
multiple epiphyseal dysplasia 4 multiple epiphyseal dysplasia 1
multiple epiphyseal dysplasia 2 multiple epiphyseal dysplasia 3
multiple epiphyseal dysplasia 5 epiphyseal dysplasia multiple with early-onset diabetes mellitus
localized epiphyseal dysplasia epiphyseal dysplasia, multiple, 6
epiphyseal dysplasia, multiple, with myopia and deafness epiphyseal dysplasia, multiple, with myopathy
multiple epiphyseal dysplasia, with miniepiphyses multiple epiphyseal dysplasia, with severe proximal femoral dysplasia

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

(show top 50)    (show all 154)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoachondroplasia31.2MATN3, COMP, COL9A1, COL9A2, COL9A3
2multiple epiphyseal dysplasia, dominant30.7COMP, COL9A1, COL9A2, COL9A3, MATN3
3short stature30.4COMP, COL2A1, MATN3
4osteochondritis dissecans30.4ACAN, COL9A3, COL9A2, COL9A1
5diastrophic dysplasia30.4COMP, SLC26A2, MATN3, COL9A3, COL9A2, COL2A1
6arthropathy30.2COMP, COL2A1, DCN, ACAN
7brachydactyly30.1COMP, COL2A1
8arthritis30.1ACAN, COL2A1
9cleft palate30.1COL11A2, COL2A1, COL11A1
10achondroplasia30.1COMP, COL2A1, ACAN, PTH1R
11osteoarthritis30.1COMP, COL2A1, COL11A2, COL9A1, COL9A2, COL9A3
12dwarfism30.0COMP, COL2A1, ACAN, PTH1R
13multiple epiphyseal dysplasia, recessive10.8
14multiple epiphyseal dysplasia 110.5
15multiple epiphyseal dysplasia 410.5
16multiple epiphyseal dysplasia 510.4
17multiple epiphyseal dysplasia, al-gazali type10.4
18multiple epiphyseal dysplasia, lowry type10.4
19multiple epiphyseal dysplasia 210.4
20multiple epiphyseal dysplasia, with miniepiphyses10.4
21multiple epiphyseal dysplasia, with severe proximal femoral dysplasia10.4
22thyroiditis10.3
23micro syndrome10.3
24short syndrome10.3
25fairbank disease10.3
26multiple epiphyseal dysplasia 310.3
27lowry wood syndrome10.3
28col9a2-related multiple epiphyseal dysplasia10.3
29col9a3-related multiple epiphyseal dysplasia10.3
30col9a1-related multiple epiphyseal dysplasia10.3
31epiphyseal dysplasia, multiple, with myopia and deafness10.3
32macrocephaly with multiple epiphyseal dysplasia and distinctive facies10.3
33epiphyseal dysplasia, multiple, with myopathy10.3
34multiple epiphyseal dysplasia, unclassified type10.3
35neuronitis10.2
36relapsing-remitting multiple sclerosis10.2
37leukoplakia10.2
38oral leukoplakia10.2
39multiple sclerosis 210.2
40rickets10.1
41tonsillitis10.1
42alopecia10.1
43type 1 diabetes10.1
44tendinopathy10.1
45spondyloepiphyseal dysplasia congenita10.1
46osteopetrosis10.1
47mucopolysaccharidosis iv10.1
48refsum disease10.1
49microcephaly10.1
50congenital nystagmus10.1

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



Diseases related to multiple epiphyseal dysplasia

Clinical Features for Multiple Epiphyseal Dysplasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

132400,600204,600969,614135,226900,607078

Clinical synopsis from OMIM:

132400

Symptoms:

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

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Multiple Epiphyseal Dysplasia

Sources:
14FMA, 33MalaCards
See all sources

MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia:

33
Heart

FMA organs/tissues related to Multiple Epiphyseal Dysplasia:

14
Hip or

Animal Models for Multiple Epiphyseal Dysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Multiple Epiphyseal Dysplasia

Sources:
51PubMed
See all sources

Articles related to Multiple Epiphyseal Dysplasia:

(show top 50)    (show all 158)
idTitleAuthorsYear
1
EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia. (23506586)
2013
2
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
3
Clinical features and treatment of the hip in multiple epiphyseal dysplasia in childhood. (21598888)
2011
4
Spectrum of intra-articular findings of the acute and subacute painful hip with multiple epiphyseal dysplasia/spondyloepiphyseal dysplasia. (21691226)
2011
5
Five patients in a Chinese family with multiple epiphyseal dysplasia. (19781400)
2009
6
Modular cementless total hip arthroplasty for multiple epiphyseal dysplasia. (18534387)
2009
7
Multiple epiphyseal dysplasia. (19995321)
2009
8
What is your diagnosis? Multiple epiphyseal dysplasia. (19180712)
2008
9
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. (18328978)
2008
10
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. (17133256)
2007
11
Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population. (16691584)
2006
12
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. (15503005)
2005
13
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. (16287128)
2005
14
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. (12483304)
2003
15
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. (12966518)
2003
16
Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. (12884427)
2003
17
Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (12768438)
2003
18
Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia. (12687890)
2003
19
Images and diagnoses. Multiple epiphyseal dysplasia. (12089880)
2002
20
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype. (11200990)
2001
21
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. (11891674)
2001
22
Multiple occurrence of osteochondromas in dysplasia epiphysealis hemimelica. (10853915)
2000
23
Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia. (10842095)
2000
24
Clinical features of multiple epiphyseal dysplasia expressed in the knee. (11064990)
2000
25
COL9A3: A third locus for multiple epiphyseal dysplasia. (10090888)
1999
26
Double-layered patella in multiple epiphyseal dysplasia: a valuable clue in the diagnosis. (9449113)
1998
27
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. (9921895)
1998
28
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (9452026)
1998
29
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. (9463320)
1998
30
Electron microscopical study in multiple epiphyseal dysplasia type II. (9793205)
1998
31
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). (8528240)
1996
32
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? (7747786)
1995
33
Multiple Epiphyseal Dysplasia, Recessive (20301483)
1993
34
A case of multiple epiphyseal dysplasia complicated by unilateral Perthes' disease. (1767660)
1991
35
Development of the hip in multiple epiphyseal dysplasia. Natural history and susceptibility to premature osteoarthritis. (2246289)
1990
36
Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome. (3706411)
1986
37
Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. (6409926)
1983
38
Findings at arthrotomy in a case of double layered patellae associated with multiple epiphyseal dysplasia. (7076836)
1982
39
Os trigonum syndrome in a patient with multiple epiphyseal dysplasia. (7186916)
1982
40
Multiple epiphyseal dysplasia in two step brothers. (7217690)
1980
41
Multiple epiphyseal dysplasia. (730283)
1978
42
Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness. (699354)
1978
43
Multiple epiphyseal dysplasia and Turner syndrome variant (45,XO/46,X ring) associated with advanced maternal age. (890113)
1977
44
Perthes' disease and multiple epiphyseal dysplasia. (917961)
1977
45
Rapidly progressive scoliosis in multiple epiphyseal dysplasia. A case report. (932068)
1976
46
Multiple epiphyseal dysplasia. A family case report. (1036536)
1976
47
Multiple epiphyseal dysplasia. 2. Morphological and histochemical investigation of cartilage matrix, particularly in the pre-calcification stage. (1180054)
1975
48
Unclassified short stature, possibly spondyloepiphyseal dysplasia, possibly multiple epiphyseal dysplasia, in father and daughter. (4218780)
1974
49
Multiple epiphyseal dysplasia. Report of a pedigree. (4283754)
1973
50
Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. II. Multiple epiphyseal dysplasia; its relation to other disorders of epiphyseal development. (13217487)
1954

Genetic Variations for Multiple Epiphyseal Dysplasia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Multiple Epiphyseal Dysplasia:

63 (show all 48)
id Symbol AA change Variation 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

Expression for genes affiliated with Multiple Epiphyseal Dysplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 53R&D Systems, 52QIAGEN
See all sources

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

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1SLC26A2, SLC26A1
2
Hide members
10.1SLC26A1, SLC26A2
39.7COL2A1, ACAN, PTH1R
4
Hide members
9.7COL9A3, COL9A2, COL9A1, COL2A1
5
Hide members
9.7COL9A3, COL9A2, COL9A1, COL2A1
6
Hide members
9.7COL2A1, COL9A1, COL9A2, COL9A3
79.7COL11A1, COL2A1, COL11A2
89.6COMP, COL2A1, DCN, ACAN
9
Hide members
9.5ACAN, SLC26A2, SLC26A1, DCN
109.5COL11A2, COL2A1, COL11A1, COMP
11
Hide members
9.5COMP, COL11A1, COL2A1, COL11A2
12
Hide members
9.3COMP, COL11A1, COL2A1, COL11A2, COL9A1
13
Hide members
9.1COL9A3, COL9A2, COL9A1, COL11A2, COL2A1, COL11A1
149.1COL11A1, COL2A1, COL11A2, COL9A1, COL9A2, COL9A3
15
Hide members
9.1COL11A1, COL2A1, COL11A2, COL9A1, COL9A2, COL9A3
16
Hide members
9.1COL11A1, COL2A1, COL11A2, COL9A1, COL9A2, COL9A3
17
Hide members
9.1COL11A1, COL2A1, COL11A2, COL9A1, COL9A2, COL9A3
18
Hide members
9.0COL9A2, COL9A3, DCN, MATN3, MATN1, ACAN
19
Hide members
7.8ACAN, COMP, COL11A1, COL2A1, COL11A2, COL9A1

Compounds for genes affiliated with Multiple Epiphyseal Dysplasia

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 29IUPHAR, 11DrugBank
See all sources

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

(show all 18)
idCompoundScoreTop Affiliating Genes
1oxalate4510.2SLC26A1, SLC26A2
2pentosidine4510.2ACAN, COL2A1, COMP
3keratan sulfate4510.1COMP, DCN, ACAN
4dermatan sulfate4510.0ACAN, DCN, COMP
5neurocan4510.0ACAN, DCN
6chondroitin sulfate45 2411.0COMP, DCN, ACAN
7dermatan45 2411.0ACAN, DCN
8agarose459.9COMP, COL2A1, DCN, ACAN
9vitamin d459.7PTH1R, ACAN, COL2A1, COMP
10proline459.5PTH1R, ACAN, COL11A2, COMP
11tgf beta1459.5ACAN, DCN, COMP
12sulfate45 2410.5COMP, COL2A1, DCN, SLC26A1, SLC26A2, ACAN
13alginate459.5ACAN, MATN1, DCN, COL2A1, COMP
14procollagen459.4COMP, COL2A1, DCN, MATN1, ACAN
15glycosaminoglycan459.4COMP, COL2A1, DCN, MATN1, ACAN
16dexamethasone45 50 29 1112.2COL2A1, DCN, SLC26A2, ACAN, PTH1R
17retinoic acid45 2410.0COMP, COL2A1, DCN, MATN1, ACAN, PTH1R
18nitric oxide45 11 2410.9COL2A1, DCN, MATN1, EIF2AK3, ACAN, PTH1R

GO Terms for genes affiliated with Multiple Epiphyseal Dysplasia

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1collagen type IXGO:0055949.8COL9A3, COL9A2, COL9A1
2collagen type XIGO:0055929.6COL11A1, COL11A2
3proteinaceous extracellular matrixGO:0055789.5ACAN, MATN1, MATN3, COMP
4endoplasmic reticulum lumenGO:0057889.1COL11A1, COL2A1, COL11A2, COL9A1, COL9A2, COL9A3
5extracellular regionGO:0055767.9ACAN, COMP, COL11A1, COL2A1, COL11A2, COL9A1

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1growth plate cartilage developmentGO:00341710.3COMP, COL9A1
23-phosphoadenosine 5-phosphosulfate biosynthetic processGO:05042810.3SLC26A1, SLC26A2
3sulfate transportGO:00827210.2SLC26A1, SLC26A2
4proteoglycan metabolic processGO:00602910.1COL2A1, COL11A1
5tissue homeostasisGO:00189410.1COL2A1, COL9A1
6chondrocyte developmentGO:00206310.0COL11A1, EIF2AK3
7organ morphogenesisGO:00988710.0DCN, COL9A1, COMP
8collagen fibril organizationGO:0301999.9COL11A2, COL2A1, COL11A1
9cartilage condensationGO:0015029.9COL2A1, COL11A1
10glycosaminoglycan metabolic processGO:0302039.8DCN, SLC26A1, SLC26A2, ACAN
11axon guidanceGO:0074119.8COL9A3, COL9A2, COL9A1, COL2A1
123-phosphoadenosine 5-phosphosulfate metabolic processGO:0504279.8SLC26A2, SLC26A1
13carbohydrate metabolic processGO:0059759.6DCN, SLC26A1, SLC26A2, ACAN
14sensory perception of soundGO:0076059.6COL11A2, COL2A1, COL11A1
15collagen catabolic processGO:0305749.4COL11A1, COL2A1, COL11A2, COL9A1, COL9A2, COL9A3
16extracellular matrix disassemblyGO:0226179.4COL11A1, COL2A1, COL11A2, COL9A1, COL9A2, COL9A3
17skeletal system developmentGO:0015018.9COMP, COL2A1, COL11A2, COL9A2, MATN3, EIF2AK3
18extracellular matrix organizationGO:0301988.1ACAN, COMP, COL11A1, COL2A1, COL11A2, COL9A1

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

idNameGO IDScoreTop Affiliating Genes
1secondary active sulfate transmembrane transporter activityGO:00827110.0SLC26A2, SLC26A1
2extracellular matrix bindingGO:0508409.8DCN, COL11A1
3sulfate transmembrane transporter activityGO:0151169.8SLC26A2, SLC26A1
4extracellular matrix structural constituent conferring tensile strengthGO:0300209.5COL9A3, COL9A2, COL9A1, COL11A2, COL2A1
5extracellular matrix structural constituentGO:0052019.1COMP, COL11A1, MATN3, MATN1, ACAN

Products for genes affiliated with Multiple Epiphyseal Dysplasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Epiphyseal Dysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet