MCID: MLT030
MIFTS: 25

Multiple Epiphyseal Dysplasia, Dominant malady

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

Aliases & Classifications for Multiple Epiphyseal Dysplasia, Dominant

Aliases & Descriptions for Multiple Epiphyseal Dysplasia, Dominant:

Name: Multiple Epiphyseal Dysplasia, Dominant 24 29

Classifications:



Summaries for Multiple Epiphyseal Dysplasia, Dominant

MalaCards based summary : Multiple Epiphyseal Dysplasia, Dominant is related to multiple epiphyseal dysplasia and vitelliform macular dystrophy. An important gene associated with Multiple Epiphyseal Dysplasia, Dominant is MATN3 (Matrilin 3), and among its related pathways/superpathways are Phospholipase-C Pathway and Focal Adhesion. Related phenotypes are Increased gamma-H2AX phosphorylation and limbs/digits/tail

Related Diseases for Multiple Epiphyseal Dysplasia, Dominant

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, Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
id Related Disease Score Top Affiliating Genes
1 multiple epiphyseal dysplasia 10.0
2 vitelliform macular dystrophy 9.9 COL9A2 COMP
3 slti salem syndrome 9.9 COMP MATN3
4 cerebral beriberi 9.8 COL9A2 COL9A3
5 osteonecrosis 9.8 COL9A1 COMP MATN3
6 bone structure disease 9.8 COL9A2 COMP MATN3
7 bone resorption disease 9.8 COL9A2 COL9A3
8 physical disorder 9.8 COL9A2 COL9A3
9 stickler syndrome, type v 9.8 COL9A2 COL9A3
10 mild hemophilia a 9.7 COL9A1 COL9A2 COL9A3
11 maternally-inherited mitochondrial dystonia 9.7 COL9A1 COL9A2 COL9A3
12 syngnathia cleft palate 9.7 COL9A1 COL9A2 COL9A3
13 charcot-marie-tooth disease type 5 9.7 COL9A1 COL9A2 COL9A3
14 myopia, x-linked 9.3 COL9A1 COL9A2 COL9A3 COMP MATN3
15 osteopetrosis 9.3 COL9A1 COL9A2 COL9A3 COMP MATN3
16 immunodeficiency 30 9.3 COL9A1 COL9A2 COL9A3 COMP MATN3
17 intermediate uveitis 9.3 COL9A1 COL9A2 COL9A3 COMP MATN3

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



Diseases related to Multiple Epiphyseal Dysplasia, Dominant

Symptoms & Phenotypes for Multiple Epiphyseal Dysplasia, Dominant

GenomeRNAi Phenotypes related to Multiple Epiphyseal Dysplasia, Dominant according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 8.92 COL9A1 COL9A2 COL9A3 COMP

MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia, Dominant:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.26 COL9A1 COL9A2 COMP MATN3
2 skeleton MP:0005390 8.92 COL9A1 COL9A2 COMP MATN3

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia, Dominant

Search Clinical Trials , NIH Clinical Center for Multiple Epiphyseal Dysplasia, Dominant

Genetic Tests for Multiple Epiphyseal Dysplasia, Dominant

Genetic tests related to Multiple Epiphyseal Dysplasia, Dominant:

id Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia, Dominant 29 24 MATN3

Anatomical Context for Multiple Epiphyseal Dysplasia, Dominant

Publications for Multiple Epiphyseal Dysplasia, Dominant

Articles related to Multiple Epiphyseal Dysplasia, Dominant:

id Title Authors Year
1
Multiple Epiphyseal Dysplasia, Dominant ( 20301302 )
1993

Variations for Multiple Epiphyseal Dysplasia, Dominant

ClinVar genetic disease variations for Multiple Epiphyseal Dysplasia, Dominant:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MATN3 NM_002381.4(MATN3): c.209G> A (p.Arg70His) single nucleotide variant Pathogenic rs104893640 GRCh37 Chromosome 2, 20212184: 20212184

Expression for Multiple Epiphyseal Dysplasia, Dominant

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

Pathways for Multiple Epiphyseal Dysplasia, Dominant

GO Terms for Multiple Epiphyseal Dysplasia, Dominant

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.72 COL9A1 COL9A2 COL9A3 COMP MATN3
2 endoplasmic reticulum lumen GO:0005788 9.46 COL9A1 COL9A2 COL9A3 MATN3
3 collagen trimer GO:0005581 9.43 COL9A1 COL9A2 COL9A3
4 proteinaceous extracellular matrix GO:0005578 9.35 COL9A1 COL9A2 COL9A3 COMP MATN3
5 collagen type IX trimer GO:0005594 8.8 COL9A1 COL9A2 COL9A3

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

id Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 9.16 COL9A1 COMP
2 skeletal system development GO:0001501 9.13 COL9A2 COMP MATN3
3 extracellular matrix organization GO:0030198 9.02 COL9A1 COL9A2 COL9A3 COMP MATN3

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COMP MATN3
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL9A1 COL9A2 COL9A3

Sources for Multiple Epiphyseal Dysplasia, Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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