Hemifacial Spasm

Alias:
Focal Myoclonus of Face
Facial Hemispasm
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hemifacial Spasm, also known as focal myoclonus of face, is related to vascular disease and hemifacial spasm, familial. An important gene associated with Hemifacial Spasm is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Signaling by Receptor Tyrosine Kinases. The drugs Pharmaceutical Solutions and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are liver/biliary system and reproductive system
Related ID:
ICD11:353312397

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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6
65
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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
Journal
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IF
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