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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
Semantic Dementia
Alias:
Semantic Variant Ppa
Semantic Primary Progressive Aphasia
Semantic Variant of Primary Progressive Aphasia
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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
语义痴呆症,也称为语义变异 PPA,与 TDP43 包涵体的额颞叶萎缩、GRN 相关和记忆障碍有关。与语义痴呆症有关的重要基因是 PSEN1(前体蛋白1),其相关通路/超级通路包括 ERBB4 信号传导和神经科学。在该疾病的背景下提到了多巴胺和美金刚。附属组织包括大脑和颞叶,相关表型为失语症和脑萎缩。
Related ID:
MALACARDS:SMN008
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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9
208
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SMN008
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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