Emery-Dreifuss Muscular Dystrophy (EDMD)

Alias:
Edmd
Muscular Dystrophy, Emery-Dreifuss
Emery-Dreifuss Syndrome
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures
Emd - [emery-Dreifuss Muscular Dystrophy]
Muscular Dystrophy, Emery-Dreifuss Type
Dystrophy, Muscular, Emery-Dreifuss
Muscular Dystrophy Emery-Dreifuss
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Emery-Dreifuss Muscular Dystrophy, also known as edmd, is related to emery-dreifuss muscular dystrophy 3, autosomal recessive and x-linked emery-dreifuss muscular dystrophy. An important gene associated with Emery-Dreifuss Muscular Dystrophy is EMD (Emerin), and among its related pathways/superpathways are Cell Cycle, Mitotic and Separation of Sister Chromatids. The drugs Anesthetics and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle, and related phenotypes are joint stiffness and myopathy
Related ID:
MESH:D020389
ICD11:749295636

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
AR
XL
Child
1-9/1000000
37
334
143

Medical Symptom

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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