Jervell and Lange-Nielsen Syndrome 2 (JLNS2)

Alias:
Jlns2
Cardioauditory Syndrome of Jervell and Lange-Nielsen
Congenital Deafness and Functional Heart Disease
Prolonged Qt Interval in Ekg and Sudden Death
Jervell and Lange-Nielsen Syndrome, Type 2
Jervell-Lange Nielsen Syndrome
Long Qt Interval-Deafness
Surdo-Cardiac Syndrome
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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
Jervell and Lange-Nielsen Syndrome 2,也被称为jlns2,与Jervell and Lange-Nielsen Syndrome 1和Long QT Syndrome 1有关,症状包括晕厥。与Jervell and Lange-Nielsen Syndrome 2有关的重要基因是KCNE1(钾电压门控通道亚家族E调节亚单位1)。Ibutilide和Progesterone已在这种疾病的背景下被提及。附属组织包括心脏和心室,相关表型为延长的QT间期和先天性感觉神经性听力障碍。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
8
5

Medical Symptom

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Categorization
Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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No Data Found!
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