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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 3 (LQT3)
Alias:
Lqt3
Long Qt Syndrome Type 3
Qt Syndrome, Long, Type 3
Long Qt Syndrome-3
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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3,也称为lqt3,与长QT综合征6和布加达综合征1有关,症状包括晕厥。与长QT综合征3有关的重要基因是SCN5A(钠电压门控通道α亚基5),其相关通路/超级通路包括cAMP依赖性PKA的激活和心脏传导。在该疾病的背景下提到了Ranolazine和利尿剂,保钾。附属组织包括心脏和内皮,相关表型为胎儿水肿和室性心动过速。
Related ID:
MALACARDS:LNG048
OMIM:603830
MESH:C565840
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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25
236
45
LNG048
Medical Symptom
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Gene & Mutation
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MGI
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