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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
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
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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
额纹尾核-苍白球路易体萎缩症,也称为drpla,与进行性肌阵挛癫痫和舞蹈病有关,症状包括小脑共济失调、肌阵挛和癫痫发作。与额纹尾核-苍白球路易体萎缩症相关的重要基因是ATN1(萎缩素1),其相关通路/超级通路包括Akt信号通路和神经科学。在该疾病的背景下,已提到的药物包括多巴胺和罗匹那罗。附属组织包括大脑和苍白球,相关表型为进行性小脑共济失调和齿状核萎缩。
Related ID:
MALACARDS:DNT005
OMIM:125370
MESH:D020191
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
全年龄段
1-9/1000000
37
391
42
DNT005
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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