Dystonia 16 (DYT16)

Alias:
Dyt16
Early-Onset Dystonia Parkinsonism
Young-Onset Dystonia-
Dystonia, Type 16
Dystonia-16
Dyt-Prkra
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dystonia 16, also known as dyt16, is related to dystonia and slc39a14 deficiency, and has symptoms including pain in lower limb, torticollis and bradykinesia. An important gene associated with Dystonia 16 is PRKRA (Protein Activator Of Interferon Induced Protein Kinase EIF2AK2), and among its related pathways/superpathways are 4-1BB Pathway and Translational Control. Affiliated tissues include tongue and brain, and related phenotypes are limb dystonia and hyperreflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
8
55
7

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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