Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant (EDMD7)

Alias:
Edmd7
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7
Dystrophy, Muscular, Emery-Dreifuss, Type 7, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 7, Ad
Emd7
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant, also known as edmd7, is related to arthrogryposis multiplex congenita-3 and osteopoikilosis. An important gene associated with Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant is TMEM43 (Transmembrane Protein 43), and among its related pathways/superpathways are Cell Cycle, Mitotic and Meiosis. Affiliated tissues include skeletal muscle and heart, and related phenotypes are neck muscle weakness and proximal muscle weakness
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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9
95
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

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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
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IF
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