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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
Cerebral Atherosclerosis
Alias:
Intracranial Arteriosclerosis
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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
脑动脉硬化,又称颅内动脉硬化,与动脉硬化易感性和短暂性脑缺血有关。与脑动脉硬化相关的重要基因是APOA1(载脂蛋白A1),其相关通路/超级通路包括血浆脂蛋白的装配、重塑和清除以及胰岛素样生长因子(IGF)通过胰岛素样生长因子结合蛋白(IGFBPs)调节IGF的运输和摄取。在该疾病的背景下提到了普萘洛尔和阿替洛尔。附属组织包括平滑肌和大脑,相关表型是自由胆固醇增加。
Related ID:
MALACARDS:CRB008
MESH:D002537
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
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Reference
MALACARDS
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未知
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11
162
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CRB008
Medical Symptom
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Description
HPO Frequency
Orphanet Frequency
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No data available
Gene & Mutation
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Name
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Category
Name
MGI
Related Gene
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