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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
Hemifacial Spasm
Alias:
Focal Myoclonus of Face
Facial Hemispasm
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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
面肌痉挛,也称为面部局灶性肌阵挛,与血管疾病和家族性面肌痉挛有关。与面肌痉挛有关的重要基因是MTHFR(甲硫氨酸四氢叶酸还原酶),其相关通路/超级通路包括PI3K-Akt信号通路和受体酪氨酸激酶信号通路。在该疾病的背景下提到了药物Pharmaceutical Solutions和乙酰胆碱。附属组织包括眼睛和大脑,相关表型为肝脏/胆道系统和生殖系统。
Related ID:
MALACARDS:HMF004
ICD11:353312397
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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6
65
--
HMF004
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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