MCID: MLT030
MIFTS: 26

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 22 24

Classifications:



Summaries for Multiple Epiphyseal Dysplasia, Dominant

About this section
MalaCards based summary: Multiple Epiphyseal Dysplasia, Dominant is related to multiple epiphyseal dysplasia and gingival fibromatosis. An important gene associated with Multiple Epiphyseal Dysplasia, Dominant is MATN3 (Matrilin 3), and among its related pathways are Gastric cancer network 2 and Protein digestion and absorption. Affiliated tissues include bone and kidney, and related mouse phenotypes are limbs/digits/tail and skeleton.

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
Localized Epiphyseal Dysplasia 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 16)
idRelated DiseaseScoreTop Affiliating Genes
1multiple epiphyseal dysplasia9.9
2gingival fibromatosis9.8COL9A1, COL9A2
3familial atrial fibrillation9.7COL9A2, COMP
4skeleto cardiac syndrome with thrombocytopenia9.6COMP, MATN3
5osteochondritis dissecans9.5COL9A1, COMP, MATN3
6intervertebral disc disease9.4COL9A2, COL9A3
7ischemic bone disease9.3COL9A2, COL9A3
8exercise-induced hyperinsulinism9.2COL9A1, COL9A2, COL9A3
9hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome9.1COL9A1, COL9A2, COL9A3
10splenic marginal zone lymphoma9.1COL9A1, COL9A2, COL9A3
11acromesomelic dysplasia9.1COL9A1, COL9A2, COL9A3
12osteochondrosis8.8COL9A1, COL9A2, COL9A3, MATN3
13bone deterioration disease8.7COL9A2, COL9A3, COMP, MATN3
14multiple pterygium syndrome, dominant8.3COL9A1, COL9A2, COL9A3, COMP, MATN3
15epiphyseal dysplasia, multiple, 18.3COL9A1, COL9A2, COL9A3, COMP, MATN3
16respiratory syncytial virus infectious disease8.3COL9A1, COL9A2, COL9A3, COMP, MATN3

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



Diseases related to multiple epiphyseal dysplasia, dominant

Symptoms for Multiple Epiphyseal Dysplasia, Dominant

About this section

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, Dominant22 MATN3

Anatomical Context for Multiple Epiphyseal Dysplasia, Dominant

About this section

MalaCards organs/tissues related to Multiple Epiphyseal Dysplasia, Dominant:

33
Bone, Kidney

Animal Models for Multiple Epiphyseal Dysplasia, Dominant or affiliated genes

About this section

MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia, Dominant:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.4COL9A1, COL9A2, COMP, MATN3
2MP:00053908.4COL9A1, COL9A2, COMP, MATN3

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

Clinvar genetic disease variations for Multiple Epiphyseal Dysplasia, Dominant:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MATN3NM_002381.4(MATN3): c.209G> A (p.Arg70His)single nucleotide variantPathogenicrs104893640GRCh37Chr 2, 20212184: 20212184

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 type IX trimerGO:00055948.5COL9A1, COL9A2, COL9A3

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

idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:00305749.0COL9A1, COL9A3
2extracellular matrix disassemblyGO:00226178.5COL9A1, COL9A2, COL9A3

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

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:00055099.5COMP, MATN3

Sources for Multiple Epiphyseal Dysplasia, Dominant

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet