MCID: MLT030
MIFTS: 22

Multiple Epiphyseal Dysplasia, Dominant malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Multiple Epiphyseal Dysplasia, Dominant

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Aliases & Descriptions for Multiple Epiphyseal Dysplasia, Dominant:

Name: Multiple Epiphyseal Dysplasia, Dominant 21 22


Classifications:



Summaries for Multiple Epiphyseal Dysplasia, Dominant

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MalaCards based summary: Multiple Epiphyseal Dysplasia, Dominant is related to multiple epiphyseal dysplasia and distal arthrogryposis. An important gene associated with Multiple Epiphyseal Dysplasia, Dominant is MATN3 (Matrilin 3), and among its related pathways are Gastric cancer network 2 and Collagen biosynthesis and modifying enzymes. Affiliated tissues include bone, and related mouse phenotype limbs/digits/tail.

GeneReviews summary for edm-ad

Related Diseases for Multiple Epiphyseal Dysplasia, Dominant

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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, dominant Multiple Epiphyseal Dysplasia, Recessive
Localized Epiphyseal Dysplasia 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 19)
idRelated DiseaseScoreTop Affiliating Genes
1multiple epiphyseal dysplasia10.3
2distal arthrogryposis9.9COL9A2, COMP
3skeleto cardiac syndrome with thrombocytopenia9.9COMP, MATN3
4acquired metabolic disease9.9COL9A2, COMP
5retinal disease9.9COL9A1, COL9A2
6benign focal amyotrophy9.8COL9A2, COL9A3
7osteochondritis dissecans9.8COL9A1, COMP, MATN3
8bone development disease9.8COL9A2, COL9A3
9osteomyelitis9.8COL9A2, COMP, MATN3
10exercise-induced hyperinsulinism9.7COL9A1, COL9A2, COL9A3
11hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism9.7COL9A1, COL9A2, COL9A3
12splenic marginal zone lymphoma9.7COL9A1, COL9A2, COL9A3
13intervertebral disc disease9.6COL9A2, COL9A3
14hypochondrogenesis9.6COL9A1, COL9A2, COL9A3
15osteochondrosis9.5COL9A1, COL9A2, COL9A3, COMP
16multiple epiphyseal dysplasia, recessive9.3COL9A1, COL9A2, COL9A3, COMP, MATN3
17epiphyseal dysplasia, multiple, 19.3COL9A1, COL9A2, COL9A3, COMP, MATN3
18chronic gonococcal salpingitis9.3COL9A1, COL9A2, COL9A3, COMP, MATN3
19bone ewing's sarcoma9.3COL9A1, 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

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Drugs & Therapeutics for Multiple Epiphyseal Dysplasia, Dominant

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Interventional clinical trials:

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

Genetic Tests for Multiple Epiphyseal Dysplasia, Dominant

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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

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

33
Bone

Animal Models for Multiple Epiphyseal Dysplasia, Dominant or affiliated genes

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MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia, Dominant:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7COL9A1, COMP, MATN3

Publications for Multiple Epiphyseal Dysplasia, Dominant

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Articles related to Multiple Epiphyseal Dysplasia, Dominant:

idTitleAuthorsYear
1
Multiple Epiphyseal Dysplasia, Dominant (20301302)
1993

Variations for Multiple Epiphyseal Dysplasia, Dominant

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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

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

Pathways for genes affiliated with Multiple Epiphyseal Dysplasia, Dominant

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GO Terms for genes affiliated with Multiple Epiphyseal Dysplasia, Dominant

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

idNameGO IDScoreTop Affiliating Genes
1collagen type IX trimerGO:00055949.0COL9A1, COL9A2, COL9A3
2endoplasmic reticulum lumenGO:00057888.2COL9A1, COL9A2, COL9A3
3proteinaceous extracellular matrixGO:00055787.6COL9A1, COL9A2, COL9A3, COMP, MATN3
4extracellular regionGO:00055767.5COL9A1, COL9A2, COL9A3, COMP, MATN3

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1growth plate cartilage developmentGO:000341710.0COL9A1, COMP
2organ morphogenesisGO:00098879.8COL9A1, COMP
3skeletal system developmentGO:00015019.1COL9A2, COMP, MATN3
4extracellular matrix disassemblyGO:00226178.6COL9A1, COL9A2, COL9A3
5collagen catabolic processGO:00305748.4COL9A1, COL9A2, COL9A3
6axon guidanceGO:00074118.2COL9A1, COL9A2, COL9A3
7extracellular matrix organizationGO:00301987.5COL9A1, 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:00052019.5COMP, MATN3
2extracellular matrix structural constituent conferring tensile strengthGO:00300208.4COL9A1, COL9A2, COL9A3

Sources for Multiple Epiphyseal Dysplasia, Dominant

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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