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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
Facial Nerve Disease
Alias:
Disorders of the Seventh Cranial Nerve
Disorders of 7th Cranial Nerve
Neuropathy of Facial Nerve
Facial Nerve Disorder
Facial Nerve Diseases
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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
面神经疾病,又称第七颅神经障碍,与贝尔麻痹和莫比乌斯综合症有关,症状包括口腔表现、面部偏瘫和沿第七颅神经的麻木。与面神经疾病有关的重要基因是MARVELD1(MARVEL域包含1),其相关通路/超级通路包括先天性淋巴细胞分化和SARS-CoV-2介导的外周和淋巴细胞激活。在该疾病的背景下提到了泼尼松和泼尼松酸。附属组织包括眼睛和骨骼,相关表型是内分泌/外分泌腺和细胞。
Related ID:
MALACARDS:FCL011
MESH:D005155
ICD11:1640393055
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
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MALACARDS
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未知
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26
341
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FCL011
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Gene & Mutation
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