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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
Alzheimer Disease 3 (AD3)
Alias:
Alzheimer Disease, Type 3
Ad3
Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual Plaques
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
Alzheimer's Disease 3
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques
Familial Alzheimer Disease 3 with Spastic Paraparesis and Unusual Plaques
Familial Alzheimer Disease 3 with Spastic Paraparesis and Apraxia
Alzheimer Disease, Protection Against, Due to Apoe3-Christchurch
Alzheimer Disease, Type 3, with Spastic Paraparesis and Apraxia
Early-Onset Familial Alzheimer Disease 3
Alzheimer Disease, Familial, Type 3
Alzheimer Disease 3, Early-Onset
Alzheimer Disease 3, Early Onset
Alzheimer Disease, Familial, 3
Alzheimer Disease Familial 3
Familial Alzheimer Disease 3
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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
阿尔茨海默病3型,也称为阿尔茨海默病3型,与早发型常染色体显性阿尔茨海默病和轻度认知障碍有关,症状包括肌阵挛、癫痫发作和外锥体系运动功能异常。与阿尔茨海默病3型有关的重要基因是PSEN1(前体蛋白1),其相关通路/超级通路包括阿尔茨海默病、miRNA效应和神经科学。在该疾病的背景下,已提到的药物有左乙拉西坦和拉科酰胺。相关组织包括大脑和皮层,相关表型为癫痫发作和失语症。
Related ID:
MALACARDS:ALZ056
OMIM:607822
MESH:D000544
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
8
170
240
ALZ056
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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