Dystonia 12 (DYT12)

Alias:
Dyt12
Generalized Dystonia
Rapid-Onset Dystonia-Parkinsonism
Dystonia-12
Rdp
Dystonia Musculorum Deformans
Idiopathic Familial Dystonia
Dystonic Disorders
Familial Dystonia
Dystonia-Parkinsonism, Rapid-Onset
Rapid-Onset Dystonia Parkinsonism
Idiopathic Non-Familial Dystonia
Dystonia 3, Torsion, X-Linked
Fragments of Torsion Dystonia
Symptomatic Torsion Dystonia
Dystonia Disorders
Dystonia, Type 12
Rodp
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dystonia 12, also known as dyt12, is related to leber optic atrophy and dystonia and dystonia 3, torsion, x-linked, and has symptoms including dystonia, myoclonus and torticollis. An important gene associated with Dystonia 12 is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Ion channel transport. The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include globus pallidus and subthalamic nucleus, and related phenotypes are dysarthria and dysphagia
Related ID:
MESH:C538001
ICD11:2145753518

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
36
330
85

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
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No data available

Disease Model

Category
Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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