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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Parkinson Disease 2, Autosomal Recessive Juvenile (PARK2)
Alias:
Autosomal Recessive Juvenile Parkinson Disease 2
Parkinsonism, Early-Onset, with Diurnal Fluctuation
Parkinson Disease, Juvenile, Autosomal Recessive
Parkinson Disease, Juvenile, Type 2
Parkinson's Disease 2
Parkinson Disease 2
Park2
Epdf
Pdj
Autosomal Recessive Early-Onset Parkinson Disease Type 2
Chromosome 6-Linked Autosomal Recessive Parkinsonism
Autosomal Recessive Juvenile Parkinson's Disease 2
Early-Onset Parkinsonism with Diurnal Fluctuation
Autosomal Recessive Juvenile Parkinson Disease
Parkinsonism Young Adult Onset
Parkinson Disease, Type 2
Parkinsonism, Juvenile
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
帕金森病2型,常染色体隐性青少年型,也称为常染色体隐性青少年帕金森病2型,与早发型帕金森病和年轻型帕金森病有关,症状包括肌肉僵硬、震颤和运动迟缓。与帕金森病2型,常染色体隐性青少年型有关的重要基因是PRKN(Parkin RBR E3 Ubiquitin Protein Ligase),其相关通路/超级通路包括DNA损伤和自噬。相关组织包括大脑和皮层,相关表型为震颤和帕金森病。
Related ID:
MALACARDS:PRK089
OMIM:600116
MESH:D020734
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
成年期
--
11
72
100
PRK089
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!
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