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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
Multiple System Atrophy 1 (MSA1)
Alias:
Multiple System Atrophy
Shy-Drager Syndrome
Multiple System Atrophy 1, Susceptibility to
Multisystem Atrophy
Msa
Sporadic Olivopontocerebellar Atrophy
Msa1
Progressive Autonomic Failure with Multiple System Atrophy
Multiple System Atrophy, Susceptibility to
Multisystem Atrophy, Susc.to, Type 1
Msa1, Susceptibility to
Opca
Sds
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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
多系统萎缩1,也称为多系统萎缩,与直立性低血压和纯自主功能障碍有关。与多系统萎缩1有关的重要基因是COQ2(辅酶Q2,多烯基转移酶),其相关通路/超通路包括神经科学和5q35拷贝数变异。在该疾病的背景下提到了乙酰胆碱和唑来膦酸。附属组织包括肢体、骨骼和大脑,相关表型为异常锥体束征和构音障碍。
Related ID:
MALACARDS:MLT157
OMIM:146500
MESH:D012791
ICD11:1890931931
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
1-5/10000
34
591
26
MLT157
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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