Blepharospasm, Benign Essential (BEB)

Alias:
Benign Essential Blepharospasm
Blepharospasm
Blepharospasm, Primary Benign
Essential Blepharospasm
Spasm of Eyelids
Blepharospasm, Benign Essential, Susceptibility to
Primary Blepharospasm
Eyelid Twitching
Beb
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Blepharospasm, Benign Essential, also known as benign essential blepharospasm, is related to blepharospasm and blepharospasm-oromandibular dystonia syndrome, and has symptoms including myoclonus, torticollis and spasmodic torticollis. An important gene associated with Blepharospasm, Benign Essential is DRD5 (Dopamine Receptor D5). The drugs Cannabidiol and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include eye and tongue, and related phenotype is blepharospasm.
Related ID:
MESH:D001764
ICD11:1127235959

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
8
6

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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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