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

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Aliases & Descriptions for Multiple Epiphyseal Dysplasia, Dominant:

Name: Multiple Epiphyseal Dysplasia, Dominant 23 25

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 osteopathia striata with pigmentary dermopathy including white forelock. 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. Related mouse phenotypes are skeleton and limbs/digits/tail.

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, 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 17)
idRelated DiseaseScoreTop Affiliating Genes
1multiple epiphyseal dysplasia9.9
2osteopathia striata with pigmentary dermopathy including white forelock9.9COMP, MATN3
3atrioventricular septal defect9.7COL9A2, COMP
4brachial plexus birth injuries9.5COL9A2, COL9A3
5osteochondrosis9.5COL9A1, COMP, MATN3
6ischemic bone disease9.4COL9A2, COMP, MATN3
7intervertebral disc disease9.4COL9A2, COL9A3
8bone structure disease9.3COL9A2, COL9A3
9isolated congenital nasal pyriform aperture stenosis9.2COL9A1, COL9A2, COL9A3
10isotretinoin syndrome9.1COL9A1, COL9A2, COL9A3
11spondylolisthesis9.1COL9A1, COL9A2, COL9A3
12chromosomal disease9.1COL9A2, COL9A3
13albright's hereditary osteodystrophy9.1COL9A1, COL9A2, COL9A3
14myasthenia, limb-girdle, with tubular aggregates8.3COL9A1, COL9A2, COL9A3, COMP, MATN3
15osteonecrosis8.3COL9A1, COL9A2, COL9A3, COMP, MATN3
16immunodeficiency 308.2COL9A1, COL9A2, COL9A3, COMP, MATN3
17pars planitis8.2COL9A1, 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, Dominant25 23 MATN3

Anatomical Context for Multiple Epiphyseal Dysplasia, Dominant

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Animal Models for Multiple Epiphyseal Dysplasia, Dominant or affiliated genes

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MGI Mouse Phenotypes related to Multiple Epiphyseal Dysplasia, Dominant:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.4COL9A1, COL9A2, COMP, MATN3
2MP:00053718.1COL9A1, COL9A2, 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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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:00055949.1COL9A1, COL9A2, COL9A3
2endoplasmic reticulum lumenGO:00057888.6COL9A1, COL9A2, COL9A3
3proteinaceous extracellular matrixGO:00055787.7COL9A1, 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:

idNameGO IDScoreTop Affiliating Genes
1animal organ morphogenesisGO:00098879.5COL9A1, COMP
2skeletal system developmentGO:00015018.6COL9A2, COMP, MATN3
3extracellular 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:00300208.7COL9A1, COL9A2, COL9A3

Sources for Multiple Epiphyseal Dysplasia, Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet