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-2,变异和临床注释数据

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

1447673669

药物名称(英)

desflurane;enflurane;halothane;isoflurane;methoxyflurane;sevoflurane;succinylcholine

变异单倍型

rs193922809

基因

RYR1

证据级别

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

100.25

PMID计数

计数的证据

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/1447673669

专业人口(英)

专业人口

临床等位基因

id	等位基因	注释文本
840	GG	Patients with the rs193922809 GG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the AG or AA genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.
839	AG	Patients with the rs193922809 AG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.
838	AA	Patients with the rs193922809 AA genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.

临床证据

id	证据的ID	总结
118	1447952524	Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.
117	1447672449	Genotype AG is associated with Malignant Hyperthermia as compared to genotype GG.
116	PA166180457	Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1

临床病史

id	类型	评论
1260	Update	CA score added as part of scoring system release. LOE assigned following curator review.
1259	Update	Drugs kept combined based on specifics of Malignant Hyperthermia diagnostics and CPIC guideline/EMHG inclusion.
1258	Update	Assigned LOE 1A since variant listed in recommendation of CPIC guideline
1257	Update	changed wording from "may be associated with increased/decreased risk of MH" to "may/may not develop MH"
1256	Create

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