Facioscapulohumeral Muscular Dystrophy 1 (FSHD1)
Alias:
Facioscapulohumeral Muscular Dystrophy
Fshd
Muscular Dystrophy, Facioscapulohumeral
Landouzy-Dejerine Muscular Dystrophy
Facioscapulohumeral Myopathy
Fshd1
Facioscapulohumeral Muscular Dystrophy Type 1a
Facioscapulohumeral Dystrophy
Landouzy-Dejerine Dystrophy
Facioscapulohumeral Atrophy
Landouzy-Dejerine Myopathy
Fsh Muscular Dystrophy
Fsh Dystrophy
Fshd1a
Landouzy-Déjerine Dystrophy or Facioscapulohumeral Atrophy
Facioscapulohumeral Type Progressive Muscular Dystrophy
Muscular Dystrophy, Facioscapulohumeral, Type 1a
Dystrophy, Muscular, Facioscapulohumeral, Type 1
Muscular Dystrophy, Facioscapulohumeral, Type 1
Fshd - [facioscapulohumeral Muscular Dystrophy]
Fmd - [facioscapulohumeral Muscular Dystrophy]
Fsh - [facioscapulohumeral Muscular Dystrophy]
Facioscapulohumeral Muscular Dystrophy Type 1
Facioscapulohumeral Muscular Dystrophy-1a
Facioscapulohumeral Muscular Dystrophy 1a
Dystrophy, Muscular, Facioscapulohumeral
Facioscapuloperoneal Muscular Dystrophy
Muscular Dystrophy Facioscapulohumeral
Muscular Dystrophy, Landouzy-Dejerine
Landouzy Dejerine Muscular Dystrophy
Facioscapulohumeral Muscle Dystrophy
Landouzy-Déjérine Muscular Dystrophy
Facio-Scapulo-Humeral Dystrophy
Landouzy-Dejerine Disease
Landouzy-Déjerine Atrophy
Fmd
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Facioscapulohumeral Muscular Dystrophy 1, also known as facioscapulohumeral muscular dystrophy, is related to facioscapulohumeral muscular dystrophy 2, digenic and coats disease. An important gene associated with Facioscapulohumeral Muscular Dystrophy 1 is FSHMD1A (Facioscapulohumeral Muscular Dystrophy 1A), and among its related pathways/superpathways are miRNAs involved in DNA damage response and miRNA role in immune response in sepsis. The drugs Pharmaceutical Solutions and Date Palm have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and eye, and related phenotypes are hyperlordosis and skeletal muscle atrophy
Related ID:
MESH:D020391
ICD11:621965073
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
1-5/10000
63
486
168
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
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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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Comparison
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Sources
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