Dystonia 6, Torsion (DYT6)

Alias:
Torsion Dystonia 6
Dyt6
Generalized Cervical and Upper-Limb-Onset Dystonia
Idiopathic Torsion Dystonia of Mixed Type
Primary Dystonia, Dyt6 Type
Torsion Dystonia, Adult-Onset, Mixed Type
Adult-Onset Torsion Dystonia Mixed Type
Autosomal Dominant Torsion Dystonia 6
Dystonia, Type 6, Torsion
Torsion Dystonia Type 6
Dystonia-6
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dystonia 6, Torsion, also known as torsion dystonia 6, is related to dystonia 1, torsion, autosomal dominant and focal dystonia, and has symptoms including torticollis and lingual dystonia. An important gene associated with Dystonia 6, Torsion is THAP1 (THAP Domain Containing 1). Affiliated tissues include tongue and globus pallidus, and related phenotypes are dystonia and generalized dystonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
6
32
38

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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