MCID: MLT030
MIFTS: 23

Multiple Epiphyseal Dysplasia, Dominant malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Multiple Epiphyseal Dysplasia, Dominant

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MalaCards based summary: Multiple Epiphyseal Dysplasia, Dominant is related to multiple epiphyseal dysplasia and short stature. An important gene associated with Multiple Epiphyseal Dysplasia, Dominant is MATN3 (matrilin 3), and among its related pathways are Gastric cancer network 2 and Signaling by FGFR. Related mouse phenotypes are skeleton and limbs/digits/tail.

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Aliases & Classifications for Multiple Epiphyseal Dysplasia, Dominant

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Multiple Epiphyseal Dysplasia, Dominant, Aliases & Descriptions:

Name: Multiple Epiphyseal Dysplasia, Dominant 19 20


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Related Diseases for Multiple Epiphyseal Dysplasia, Dominant

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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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Drug clinical trials:

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Search 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, Dominant20 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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.7MATN3, COL9A1, COMP
2MP:00053718.4MATN3, COL9A1, COMP

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:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Multiple Epiphyseal Dysplasia, Dominant

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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Pathways related to Multiple Epiphyseal Dysplasia, Dominant according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0COL9A1, COL9A3
2
Show member pathways
8.5COL9A1, COL9A3, COL9A2
3
Show member pathways
8.5COL9A3, COL9A1, COL9A2
4
Show member pathways
8.5COL9A2, COL9A3, COL9A1
5
Show member pathways
8.5COL9A1, COL9A2, COL9A3
6
Show member pathways
8.5COL9A1, COL9A3, COL9A2
7
Show member pathways
8.5COL9A2, COL9A3, COL9A1
8
Show member pathways
8.5COL9A3, COL9A2, COL9A1
98.5COL9A2, COL9A3, COL9A1
10
Show member pathways
8.5COL9A2, COL9A3, COL9A1
118.0COMP, COL9A1, COL9A3, COL9A2
127.5COL9A2, COMP, COL9A3, COL9A1, MATN3
13
Show member pathways
7.5MATN3, COL9A1, COL9A3, COMP, COL9A2

Compounds 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.5MATN3, COMP
2collagen type IXGO:0055948.5COL9A1, COL9A3, COL9A2
3endoplasmic reticulum lumenGO:0057888.2COL9A1, COL9A3, COL9A2
4extracellular regionGO:0055767.4COMP, COL9A2, COL9A3, COL9A1, MATN3

Biological processes related to Multiple Epiphyseal Dysplasia, Dominant according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1growth plate cartilage developmentGO:0034179.1COL9A1, COMP
2organ morphogenesisGO:0098879.1COL9A1, COMP
3skeletal system developmentGO:0015018.9COMP, COL9A2, MATN3
4collagen catabolic processGO:0305748.6COL9A1, COL9A3, COL9A2
5extracellular matrix disassemblyGO:0226178.6COL9A2, COL9A3, COL9A1
6axon guidanceGO:0074118.2COL9A1, COL9A3, COL9A2
7extracellular matrix organizationGO:0301987.7MATN3, COL9A1, COL9A3, COL9A2, COMP

Molecular functions related to Multiple Epiphyseal Dysplasia, Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.5MATN3, COMP
2extracellular matrix structural constituent conferring tensile strengthGO:0300208.2COL9A1, COL9A3, COL9A2

Products for genes affiliated with Multiple Epiphyseal Dysplasia, Dominant

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Sources for Multiple Epiphyseal Dysplasia, Dominant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet