Parkinson Disease 14, Autosomal Recessive (PARK14)

Parkinson Disease 14, Autosomal Recessive(来自ICD-11)
别称:
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
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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
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参考文献
MALACARDS
AR
Adolescent
<1/1000000
6
45
7

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