Multiple Epiphyseal Dysplasia (EDM)

Alias:
Polyepiphyseal Dysplasia
Med
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal Dysplasia, Multiple, 2
Epiphyseal Dysplasia, Multiple, 3
Epiphyseal Dysplasia, Multiple, 5
Edm
Multiple Epiphyseal Dysplasia, Autosomal Recessive
Multiple Epiphyseal Dysplasia, Autosomal Dominant
Epiphyseal Dysplasia, Fairbank Type
Epiphyseal Dysplasia, Ribbing Type
Dysplasia, Epiphyseal, Multiple
Epiphyseal Dysplasia Multiple
Osteochondrodysplasias
Edm1
Edm4
Edm2
Edm3
Edm5
Rmed
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Multiple Epiphyseal Dysplasia, also known as polyepiphyseal dysplasia, is related to epiphyseal dysplasia, multiple, 4 and epiphyseal dysplasia, multiple, 3, and has symptoms including hip pain, knee pain and arthralgia. An important gene associated with Multiple Epiphyseal Dysplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Valproic acid and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are Increased gamma-H2AX phosphorylation and homeostasis/metabolism
Related ID:
MESH:D010009

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
1-9/100000
23
166
1

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

Name
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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