EDM
MCID: MLT007
MIFTS: 77

Multiple Epiphyseal Dysplasia (EDM) malady

Bone diseases, Fetal diseases categories

Summaries for Multiple Epiphyseal Dysplasia

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 short stature/dwarfism/nanism, wrist/carpal anomalies and short hand/brachydactyly. 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, bone and eye, 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:63 Fairbanks disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form—1... more...

Description from OMIM:46 132400, 600204, 600969, 614135, 226900 607078 more

Aliases & Classifications for Multiple Epiphyseal Dysplasia

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 27ICD9CM, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 21 10 44 48 60
epiphyseal dysplasia, multiple, 5 21 46 60
epiphyseal dysplasia, multiple, 4 21 46 60
epiphyseal dysplasia, multiple, 2 21 46 60
epiphyseal dysplasia, multiple, 3 21 46 60
epiphyseal dysplasia, multiple, 1 21 60
rmed 21 48
edm1 21 48
edm5 21 48
edm4 21 48
med 42 21
multiple epiphyseal dysplasia due to collagen 9 anomaly 48
multiple epiphyseal dysplasia, autosomal recessive 21
multiple epiphyseal dysplasia, autosomal dominant 21
autosomal recessive multiple epiphyseal dysplasia 48
multiple epiphyseal dysplasia type 4 48
multiple epiphyseal dysplasia type 5 48
multiple epiphyseal dysplasia type 1 48
epiphyseal dysplasia, fairbank type 21
epiphyseal dysplasia, ribbing type 21
epiphyseal dysplasia, multiple 1 46
polyepiphyseal dysplasia type 1 48
polyepiphyseal dysplasia type 4 48
polyepiphyseal dysplasia type 5 48
epiphyseal dysplasia, multiple 42
polyepiphyseal dysplasia 48
edm3 21
med4 48
edm2 21
med1 48
med5 48
edm 42


External Ids:

Disease Ontology8 DOID:12721
MeSH34 D010009
ICD9CM27 756.56
SNOMED-CT56 205504001, 59708000
ICD10 via Orphanet26 Q77.3
SNOMED-CT via Orphanet57 59708000
UMLS via Orphanet61 C0026760, C1847593, C1838280 C1846843, more
MESH via Orphanet35 C535504, C535501, C535505

Related Diseases for Multiple Epiphyseal Dysplasia

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Sources:
17GeneCards, 18GeneDecks
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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 Localized Epiphyseal Dysplasia
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 158)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoachondroplasia31.1MATN3, COMP, COL9A1, COL9A2, COL9A3
2multiple epiphyseal dysplasia, dominant30.7COMP, COL9A1, COL9A2, COL9A3, MATN3
3myopathy30.6COMP
4osteochondritis dissecans30.3ACAN, COL9A3, COL9A2, COL9A1
5diastrophic dysplasia30.3COMP, SLC26A2, MATN3, COL9A3, COL9A2, COL2A1
6arthropathy30.2COMP, COL2A1, DCN, ACAN
7brachydactyly30.1COMP, COL2A1
8arthritis30.1ACAN, COL2A1
9metaphyseal dysplasia30.1COL2A1, CRELD2, PTH1R
10cleft palate30.1COL11A2, COL2A1, COL11A1
11achondroplasia30.1COMP, COL2A1, ACAN, PTH1R
12osteoarthritis30.1COMP, COL2A1, COL11A2, COL9A1, COL9A2, COL9A3
13dwarfism30.0COMP, COL2A1, ACAN, PTH1R
14multiple epiphyseal dysplasia, recessive10.7
15multiple epiphyseal dysplasia 410.5
16multiple epiphyseal dysplasia 110.4
17multiple epiphyseal dysplasia 510.4
18multiple epiphyseal dysplasia, al-gazali type10.4
19multiple epiphyseal dysplasia, lowry type10.4
20multiple epiphyseal dysplasia, with miniepiphyses10.3
21multiple epiphyseal dysplasia, with severe proximal femoral dysplasia10.3
22fairbank disease10.3
23multiple epiphyseal dysplasia 210.3
24multiple epiphyseal dysplasia 310.3
25col9a2-related multiple epiphyseal dysplasia10.3
26col9a3-related multiple epiphyseal dysplasia10.3
27col9a1-related multiple epiphyseal dysplasia10.3
28epiphyseal dysplasia, multiple, 610.3
29epiphyseal dysplasia, multiple, with myopia and deafness10.3
30macrocephaly with multiple epiphyseal dysplasia and distinctive facies10.3
31epiphyseal dysplasia, multiple, with myopathy10.3
32thyroiditis10.2
33relapsing-remitting multiple sclerosis10.2
34multiple sclerosis10.2
35prostate cancer10.1
36medulloblastoma10.1
37tendinopathy10.1
38spondyloepiphyseal dysplasia congenita10.1
39osteopetrosis10.1
40mucopolysaccharidosis iv10.1
41refsum disease10.1
42microcephaly10.1
43congenital nystagmus10.1
44vitiligo10.1
45cartilage disease10.1
46cataract10.1
47diabetes mellitus10.1
48myopia10.1
49turner syndrome10.1
50epiphyseal dysplasia multiple with early-onset diabetes mellitus10.1

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



Diseases related to multiple epiphyseal dysplasia

Clinical Features for Multiple Epiphyseal Dysplasia

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

132400,600204,600969,614135,226900,607078

Clinical synopsis from OMIM:

132400

Symptoms:

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

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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32MalaCards, 14FMA
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MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia:

32
Bone, Eye, Testes, Heart

FMA organs/tissues related to Multiple Epiphyseal Dysplasia:

14
Hip or

Animal Models for Multiple Epiphyseal Dysplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4COL11A1, COL2A1, COL9A1, ACAN
2MP:00053888.6COL11A1, COL2A1, DCN, KIF7, ACAN, PTH1R
3MP:00053828.5COL11A1, COL2A1, COL11A2, DCN, KIF7, SLC26A2
4MP:00053818.4COL11A1, COL2A1, DCN, EIF2AK3, KIF7, SLC26A1
5MP:00053788.3COL2A1, COL11A2, DCN, MATN3, EIF2AK3, SLC26A2
6MP:00053878.3COMP, COL11A1, COL2A1, COL9A1, DCN, MATN3
7MP:00053718.2COMP, COL11A1, COL2A1, COL9A1, MATN3, EIF2AK3
8MP:00053907.3PTH1R, COMP, COL11A1, COL2A1, COL11A2, COL9A1

Publications for Multiple Epiphyseal Dysplasia

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50PubMed
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Articles related to Multiple Epiphyseal Dysplasia:

(show top 50)    (show all 157)
idTitleAuthorsYear
1
Reliability of lower-limb alignment measurements in patients with multiple epiphyseal dysplasia. (22948526)
2012
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
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. (22587682)
2012
4
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. (21922596)
2012
5
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. (21204225)
2011
6
Clinical features and treatment of the hip in multiple epiphyseal dysplasia in childhood. (21598888)
2011
7
Spectrum of intra-articular findings of the acute and subacute painful hip with multiple epiphyseal dysplasia/spondyloepiphyseal dysplasia. (21691226)
2011
8
Total hip replacement in patients with multiple epiphyseal dysplasia with a mean follow-up of 15 years and survival analysis. (20357323)
2010
9
What is your diagnosis? Multiple epiphyseal dysplasia. (19180712)
2008
10
Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia. (18546327)
2008
11
MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. (15503005)
2005
12
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
13
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. (16287128)
2005
14
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. (14729835)
2004
15
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. (15266613)
2004
16
Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia. (12687890)
2003
17
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. (14684695)
2003
18
Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2). (12244547)
2002
19
Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes. (11528506)
2001
20
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype. (11200990)
2001
21
Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX. (11084047)
2001
22
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. (11565064)
2001
23
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. (11479597)
2001
24
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. (10655510)
2000
25
Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia. (10678658)
2000
26
The orthopaedic aspects of multiple epiphyseal dysplasia. (10093815)
1998
27
Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family. (9021009)
1997
28
A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). (8528240)
1996
29
Double patella syndrome with a form of multiple epiphyseal dysplasia. (7595113)
1995
30
A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. (7907311)
1994
31
Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage. (8465858)
1993
32
Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia. (8094597)
1993
33
Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type. (8267011)
1993
34
Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee. Incidence in two families. (3238439)
1988
35
Arthritis in children with multiple epiphyseal dysplasia. (3981501)
1985
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 review of the literature and case report. (521590)
1979
39
Multiple epiphyseal dysplasia and Turner syndrome variant (45,XO/46,X ring) associated with advanced maternal age. (890113)
1977
40
Perthes' disease and multiple epiphyseal dysplasia. (917961)
1977
41
Auriculoepiphyseal dysplasia (multiple epiphyseal dysplasia and anomalous auricles): clinical, structural and biochemical studies. (811276)
1975
42
Osteoarthrosis of the hip joints in multiple epiphyseal dysplasia. (4534821)
1974
43
Multiple epiphyseal dysplasia tarda. A family with autosomal recessive inheritance. (4426126)
1974
44
Multiple epiphyseal dysplasia. Report of a pedigree. (4283754)
1973
45
Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. (5008828)
1972
46
Multiple epiphyseal dysplasia. A contribution to the problem of spinal involvement. (5769300)
1969
47
Inheritance of multiple epiphyseal dysplasia, tarda. (5703690)
1968
48
Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. II. Multiple epiphyseal dysplasia; its relation to other disorders of epiphyseal development. (13217487)
1954
49
Multiple Epiphyseal Dysplasia. (19991793)
1939
50
Multiple Epiphyseal Dysplasia. (19991784)
1939

Genetic Variations for Multiple Epiphyseal Dysplasia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Multiple Epiphyseal Dysplasia:

62 (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

Expression for genes affiliated with Multiple Epiphyseal Dysplasia

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1BioGPS, 15Gene 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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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG, 52R&D Systems, 51QIAGEN
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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

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Sources:
44Novoseek, 24HMDB, 49PharmGKB, 28IUPHAR, 11DrugBank
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Compounds related to Multiple Epiphyseal Dysplasia according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1oxalate4410.2SLC26A1, SLC26A2
2pentosidine4410.2ACAN, COL2A1, COMP
3keratan sulfate4410.1COMP, DCN, ACAN
4dermatan sulfate4410.0ACAN, DCN, COMP
5neurocan4410.0ACAN, DCN
6chondroitin sulfate44 2411.0COMP, DCN, ACAN
7dermatan44 2411.0ACAN, DCN
8agarose449.9COMP, COL2A1, DCN, ACAN
9vitamin d449.7PTH1R, ACAN, COL2A1, COMP
10proline449.5PTH1R, ACAN, COL11A2, COMP
11tgf beta1449.5ACAN, DCN, COMP
12sulfate44 2410.5COMP, COL2A1, DCN, SLC26A1, SLC26A2, ACAN
13alginate449.5ACAN, MATN1, DCN, COL2A1, COMP
14procollagen449.4COMP, COL2A1, DCN, MATN1, ACAN
15glycosaminoglycan449.4COMP, COL2A1, DCN, MATN1, ACAN
16dexamethasone44 49 28 1112.2COL2A1, DCN, SLC26A2, ACAN, PTH1R
17retinoic acid44 2410.0COMP, COL2A1, DCN, MATN1, ACAN, PTH1R
18nitric oxide44 11 2410.9COL2A1, DCN, MATN1, EIF2AK3, ACAN, PTH1R

GO Terms for genes affiliated with Multiple Epiphyseal Dysplasia

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16Gene Ontology
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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

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Sources for Multiple Epiphyseal Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet