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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
非罕见病
Myasthenic Syndrome, Congenital, 1b, Fast-Channel (CMS1B)
Alias:
Cms1b
Myasthenic Syndrome, Congenital, Fast-Channel
Congenital Myasthenic Syndrome 1b
Myasthenic Syndrome, Congenital, Type 1b, Fast-Channel
Congenital Myasthenic Syndrome 1b, Fast-Channel
Myasthenic Syndrome, Fast-Channel Congenital
Congenital Myasthenic Syndrome Ib
Fccms
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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
肌无力症,先天性,1b,快通道,也称为cms1b,与肌无力症,先天性,10和肌无力症,先天性,4b,快通道有关,症状包括面部麻痹。与肌无力症,先天性,1b,快通道有关的重要基因是CHRNA1(烟碱型乙酰胆碱受体α1亚基),其相关通路/超级通路包括通用的他汀通路、药物动力学和血脑屏障以及免疫细胞迁移:概述。相关组织包括骨骼肌和大脑,相关表型为易疲劳和颈部肌肉无力。
Related ID:
MALACARDS:MYS047
OMIM:608930
MESH:D020294
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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17
111
7
MYS047
Medical Symptom
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Categorization
Description
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Orphanet Frequency
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No data available
Gene & Mutation
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Mutations
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Name
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No data available
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Category
Name
MGI
Related Gene
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