Parkinson Disease 14, Autosomal Recessive (PARK14)

Alias:
Park14
Autosomal Recessive Parkinson Disease 14
Dystonia-Parkinsonism, Paisan-Ruiz Type
Pla2g6-Related Dystonia-Parkinsonism
Dystonia-Parkinsonism, Adult-Onset
Dystonia-Parkinsonism Adult-Onset
Adult-Onset Dystonia-Parkinsonism
Parkinson's Disease 14
Parkinson Disease 14
Autosomal Recessive Parkinson's Disease 14
Parkinson Disease 14 Autosomal Recessive
Dystonia-Parkinsonism Paisan-Ruiz Type
Parkinson Disease, Type 14
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Parkinson Disease 14, Autosomal Recessive, also known as park14, is related to neurodegeneration with brain iron accumulation 2a and neuroaxonal dystrophy, and has symptoms including muscle rigidity, muscle spasticity and tremor. An important gene associated with Parkinson Disease 14, Autosomal Recessive is PLA2G6 (Phospholipase A2 Group VI), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Ras signaling. Affiliated tissues include brain and globus pallidus, and related phenotypes are spasticity and hyperreflexia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adolescent
<1/1000000
6
45
7

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

Name
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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