Dentatorubral-Pallidoluysian Atrophy (DRPLA)

Alias:
Drpla
Naito-Oyanagi Disease
Haw River Syndrome
Myoclonic Epilepsy with Choreoathetosis
Dentatorubral Pallidoluysian Atrophy
Dentatorubropallidoluysian Atrophy
Nod
Ataxia, Chorea, Seizures, and Dementia
Atrophy, Pallidoluysian, Dentatorubral
Dentatorubro-Pallidoluysian Atrophy
Myoclonic Epilepsies, Progressive
Hrs
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dentatorubral-Pallidoluysian Atrophy, also known as drpla, is related to progressive myoclonus epilepsy and choreatic disease, and has symptoms including cerebellar ataxia, myoclonus and seizures. An important gene associated with Dentatorubral-Pallidoluysian Atrophy is ATN1 (Atrophin 1), and among its related pathways/superpathways are Akt Signaling and Neuroscience. The drugs Dopamine and Ropinirole have been mentioned in the context of this disorder. Affiliated tissues include brain and globus pallidus, and related phenotypes are progressive cerebellar ataxia and atrophy of the dentate nucleus
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
1-9/1000000
37
385
42

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top