Dystonia 3, Torsion, X-Linked (DYT3)

Alias:
X-Linked Dystonia-Parkinsonism
Dyt3
Lubag
Xdp
Dystonia-Parkinsonism, X-Linked
Torsion Dystonia-Parkinsonism, Filipino Type
Dystonia Musculorum Deformans
Lubag Syndrome
X-Linked Torsion Dystonia-Parkinsonism Syndrome
Torsion Dystonia-Parkinsonism Filipino Type
X-Linked Dystonia-Parkinsonism Syndrome
Dystonia, Torsion, X-Linked, Type 3
X-Linked Dystonia Parkinsonism
X-Linked Torsion Dystonia 3
Dystonia-3
Dyt-Taf1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dystonia 3, Torsion, X-Linked, also known as x-linked dystonia-parkinsonism, is related to dystonia 1, torsion, autosomal dominant and dystonia 12, and has symptoms including dystonia, myoclonus and torticollis. An important gene associated with Dystonia 3, Torsion, X-Linked is TAF1 (TATA-Box Binding Protein Associated Factor 1), and among its related pathways/superpathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and HIV Life Cycle. The drugs Dopamine and Mung bean have been mentioned in the context of this disorder. Affiliated tissues include caudate nucleus and tongue, and related phenotypes are chorea and myoclonus
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Adult
1-9/1000000
19
122
48

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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