Rare Disease
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
Neuronal diseases
Muscle diseases
Basic Information
Medical Symptom
Gene & Mutation
Drugs
Disease Model
References
Basic Information
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
Basic Information
Inheritance
Age Of Onset
Prevalence
Related Gene
Disease Model
Reference
MALACARD
AD
All ages
1-9/100000
3
34
168
Medical Symptom
Even among those with the same illness, each patient's condition and symptoms are unique. To provide patient-centered medical care, medical professionals must carefully evaluate individual differences between patients. This involves thorough assessment of medical details when diagnosing and developing treatment plans. To achieve personalized and maximally effective care, practitioners refer to the latest research and standards of care to tailor treatment strategies for each patient.
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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
Diseases are frequently associated with anomalies or mutations in certain genes. These genes and mutations can disrupt cellular functioning and induce physiological imbalances, resulting in illnesses. In-depth research on illness genes and mutations can help us better understand disease etiology and give new ideas and approaches for disease prevention, diagnosis, and therapy.
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Gene
Function
Score
Count
No data available
Drugs
Gene target medications are a novel form of treatment that can alter genes or proteins while also blocking disease processes. It precisely detects and chooses target proteins in order to induce therapeutic effects. Target medications are categorized into several groups based on disease causes and molecular foundation, and numerous ways are employed to treat illnesses.
Name
CAS Number
Status
Phase
No data available
Disease Model
The mouse disease model refers to the manipulation of the mouse genome through gene editing and other techniques, enabling it to carry a specific disease gene or lack an important gene. This provides an experimental platform for researching the mechanism of disease occurrence, drug development, and treatment efficacy.
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References
Disease literature reviews provide a wide spectrum of research findings and clinical data, giving vital information for our comprehensive understanding of illnesses. By researching this material, we may gain a better understanding of the illness's pathophysiology and treatment strategies, as well as give a scientific foundation for disease prevention and management.
Title
PMID
Journal
Year
IF
No Data Found!
Comparison
BioGPT