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

About this section

Aliases & Descriptions for Multiple Epiphyseal Dysplasia, Dominant:

Name: Multiple Epiphyseal Dysplasia, Dominant 24 27

Classifications:



Summaries for Multiple Epiphyseal Dysplasia, Dominant

About this section
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 are Gastric Cancer Network 2 and NCAM1 interactions. Related mouse phenotypes are Increased gamma-H2AX phosphorylation and limbs/digits/tail.

Related Diseases for Multiple Epiphyseal Dysplasia, Dominant

About this section

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)
idRelated DiseaseScoreTop Affiliating Genes
1multiple epiphyseal dysplasia10.0
2vitelliform macular dystrophy9.9COL9A2, COMP
3slti salem syndrome9.9COMP, MATN3
4cerebral beriberi9.8COL9A2, COL9A3
5osteonecrosis9.8COL9A1, COMP, MATN3
6bone structure disease9.8COL9A2, COMP, MATN3
7bone resorption disease9.8COL9A2, COL9A3
8physical disorder9.8COL9A2, COL9A3
9stickler syndrome, type v9.8COL9A2, COL9A3
10mild hemophilia a9.7COL9A1, COL9A2, COL9A3
11maternally-inherited mitochondrial dystonia9.7COL9A1, COL9A2, COL9A3
12syngnathia cleft palate9.7COL9A1, COL9A2, COL9A3
13charcot-marie-tooth disease type 59.7COL9A1, COL9A2, COL9A3
14myopia, x-linked9.3COL9A1, COL9A2, COL9A3, COMP, MATN3
15osteopetrosis9.3COL9A1, COL9A2, COL9A3, COMP, MATN3
16immunodeficiency 309.3COL9A1, COL9A2, COL9A3, COMP, MATN3
17intermediate uveitis9.3COL9A1, COL9A2, COL9A3, COMP, MATN3

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



Diseases related to multiple epiphyseal dysplasia, dominant

Symptoms & Phenotypes for Multiple Epiphyseal Dysplasia, Dominant

About this section

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00053-A8.8COL9A1, COL9A2, COL9A3, COMP

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1COL9A1, COL9A2, COMP, MATN3
2MP:00053908.4COL9A1, COL9A2, COMP, MATN3

Drugs & Therapeutics for Multiple Epiphyseal Dysplasia, Dominant

About this section

Interventional clinical trials:

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

Genetic Tests for Multiple Epiphyseal Dysplasia, Dominant

About this section

Genetic tests related to Multiple Epiphyseal Dysplasia, Dominant:

id Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia, Dominant27 24 MATN3

Anatomical Context for Multiple Epiphyseal Dysplasia, Dominant

About this section

Publications for Multiple Epiphyseal Dysplasia, Dominant

About this section

Articles related to Multiple Epiphyseal Dysplasia, Dominant:

idTitleAuthorsYear
1
Multiple Epiphyseal Dysplasia, Dominant (20301302)
1993

Variations for Multiple Epiphyseal Dysplasia, Dominant

About this section

Expression for genes affiliated with Multiple Epiphyseal Dysplasia, Dominant

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

Pathways for genes affiliated with Multiple Epiphyseal Dysplasia, Dominant

About this section

GO Terms for genes affiliated with Multiple Epiphyseal Dysplasia, Dominant

About this section

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

idNameGO IDScoreTop Affiliating Genes
1collagen trimerGO:00055819.3COL9A1, COL9A2, COL9A3
2collagen type IX trimerGO:00055949.3COL9A1, COL9A2, COL9A3
3endoplasmic reticulum lumenGO:00057888.8COL9A1, COL9A2, COL9A3, MATN3
4extracellular regionGO:00055768.2COL9A1, COL9A2, COL9A3, COMP, MATN3
5proteinaceous extracellular matrixGO:00055787.5COL9A1, COL9A2, COL9A3, COMP, MATN3

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

idNameGO IDScoreTop Affiliating Genes
1animal organ morphogenesisGO:000988710.1COL9A1, COMP
2skeletal system developmentGO:00015018.9COL9A2, COMP, MATN3
3extracellular matrix organizationGO:00301988.1COL9A1, COL9A2, COL9A3, COMP, MATN3

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.6COMP, MATN3
2extracellular matrix structural constituent conferring tensile strengthGO:00300208.5COL9A1, COL9A2, COL9A3

Sources for Multiple Epiphyseal Dysplasia, Dominant

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet