地氟醚;安氟醚;氟烷;异氟醚;甲氧基氟醚;七氟醚;琥珀胆碱
临床注释ID
1445400206
药物名称(英)
desflurane;enflurane;halothane;isoflurane;methoxyflurane;sevoflurane;succinylcholine
变异单倍型
rs118192122
基因
RYR1
证据级别
1A
水平覆盖
水平修饰符
Rare Variant; Tier 1 VIP
表现型类别(英)
Toxicity
表现型类别
毒性
分数
103
PMID计数
18
计数的证据
19
表现型
恶性高热
表现型(英)
Malignant Hyperthermia
最新日期
2021/3/24 0:00:00
URL
https://www.pharmgkb.org/clinicalAnnotation/1445400206
专业人口(英)
Pediatric
专业人口
儿科
临床证据
id证据的ID总结
3167 1449160148 Allele A is associated with Malignant Hyperthermia as compared to allele G.
3166 1447987594 Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.
3165 1447961289 Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.
3164 1447960670 Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.
3163 1447952717 Allele A is associated with increased risk of Malignant Hyperthermia when exposed to volatile anesthetics as compared to allele G.
3162 1447952549 Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.
3161 1447948719 Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.
3160 1447946199 Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.
3159 1447675923 Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.
3158 1447674385 Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.
3157 1447674319 Allele A is associated with increased risk of Malignant Hyperthermia and multi-core congenital myopathy as compared to allele G.
3156 1447673950 Allele A is associated with increased risk of Malignant Hyperthermia when exposed to methoxyflurane as compared to allele G.
3155 1447672469 Genotype AG is associated with Malignant Hyperthermia as compared to genotype GG.
3154 1447634061 Allele A is associated with Malignant Hyperthermia as compared to allele G.
3153 1445297392 Allele A is associated with increased risk of Malignant Hyperthermia when exposed to desflurane, enflurane, halothane, isoflurane, sevoflurane or succinylcholine as compared to allele G.
3152 1445297038 Allele A is associated with increased risk of Malignant Hyperthermia in people with increased creatine kinase level as compared to allele G.
3151 1444698012 Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.
3150 1444697865 Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.
3149 PA166180457 Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1
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