Parkinsonism-Dystonia 2, Infantile-Onset (PKDYS2)

Alias:
Brain Dopamine-Serotonin Vesicular Transport Disease
Parkinsonism-Dystonia, Infantile, 2
Pkdys2
Brain Monoamine Vesicular Transport Disease
Infantile Parkinsonism-Dystonia 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Parkinsonism-Dystonia 2, Infantile-Onset, also known as brain dopamine-serotonin vesicular transport disease, is related to hypotonia and parkinsonism. An important gene associated with Parkinsonism-Dystonia 2, Infantile-Onset is SLC18A2 (Solute Carrier Family 18 Member A2). Affiliated tissues include brain and eye, and related phenotypes are abnormality of eye movement and ptosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
<1/1000000
1
10
4

Medical Symptom

#
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
Year
IF
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