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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
Long Qt Syndrome 15 (LQT15)
Alias:
Lqt15
Long Qt Syndrome, Type 15
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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
长QT综合征15,也称为lqt15,与长QT综合征14和心室心动过速、儿茶酚胺多形性3有关。与长QT综合征15有关的重要基因是CALM2(钙调蛋白2),其相关通路/超级通路包括cAMP依赖性PKA的激活和化学突触的传递。相关组织包括心脏和心房,相关表型为窦性心动过缓和延长QTc间期。
Related ID:
MALACARDS:LNG096
OMIM:616249
MESH:D008133
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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10
71
7
LNG096
Medical Symptom
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Categorization
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No data available
Gene & Mutation
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MGI
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