Epiphyseal Dysplasia, Multiple, 5 (EDM5)

Alias:
Edm5
Multiple Epiphyseal Dysplasia Type 5
Bhmed
Multiple Epiphyseal Dysplasia 5
Bilateral Hereditary Micro-Epiphyseal Dysplasia
Polyepiphyseal Dysplasia Type 5
Med5
Microepiphyseal Dysplasia, Bilateral Hereditary
Bilateral Hereditary Microepiphyseal Dysplasia
Multiple Epiphyseal Dysplasia, Matn3-Related
Multiple Epiphyseal Dysplasia Matn3-Related
Dysplasia, Epiphyseal, Multiple, Type 5
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epiphyseal Dysplasia, Multiple, 5, also known as edm5, is related to multiple epiphyseal dysplasia and osteochondrodysplasia, and has symptoms including hip pain and knee pain. An important gene associated with Epiphyseal Dysplasia, Multiple, 5 is MATN3 (Matrilin 3), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Extracellular matrix organization. Affiliated tissues include bone, and related phenotypes are hip dysplasia and delayed proximal femoral epiphyseal ossification
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
11
53
10

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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