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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
Dystonia
Alias:
Dystonic Disorder
Dystonic Disease
Neuroleptic Dyskinesia
Dystonia Disorders
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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
肌张力障碍,又称为肌张力障碍症,与肌张力障碍1、扭转、常染色体显性肌张力障碍12有关,症状包括背痛、头痛和肌肉痉挛。与肌张力障碍相关的基因包括GNAL(G蛋白亚基αL),其相关通路/超级通路包括α-突触核蛋白信号通路和生物胺合成。在该疾病的背景下,已提到的药物包括左旋多巴和阿马替林。相关组织包括苍白球和大脑,相关表型为shRNA丰度增加(Z-score>2)和神经系统。
Related ID:
MALACARDS:DYS154
MESH:D004421
ICD11:2145753518/other
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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256
2379
48
DYS154
Medical Symptom
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Description
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Orphanet Frequency
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No data available
Gene & Mutation
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No data available
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Name
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Category
Name
MGI
Related Gene
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