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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
Amyotrophic Neuralgia
Alias:
Neuralgic Amyotrophy
Brachial Plexus Neuritis
Neuralgic Shoulder Amyotrophy
Mononeuritis Multiplex with Brachial Predilection
Immune Brachial Plexus Neuropathy
Acute Brachial Plexus Neuritis
Parsonage-Turner Syndrome
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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
肌萎缩性神经痛,又称神经性肌萎缩,与臂丛神经炎和单神经病有关。与肌萎缩性神经痛相关的基因是SEPTIN9(Septin 9),其相关通路/超级通路包括22q11.2拷贝数变异综合征和细胞骨架重塑_RalA调节通路。在该疾病的背景下提到了乙酰胆碱和胆碱能药物。附属组织包括大脑和脊髓,相关表型为肌肉无力和emg异常。
Related ID:
MALACARDS:AMY003
MESH:D020968
ICD11:302246011
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
1-9/100000
18
98
4
AMY003
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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