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

1445400222

药物名称(英)

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

变异单倍型

rs193922772

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

102.5

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/1445400222

专业人口(英)

Pediatric

专业人口

儿科

临床等位基因

id	等位基因	注释文本
789	TT	Patients with the rs193922772 TT 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.
788	GT	Patients with the rs193922772 GT 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.
787	GG	Patients with the rs193922772 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 GT or TT 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
3280	1447960973	Allele T is associated with increased risk of Malignant Hyperthermia as compared to allele G.
3279	1447952500	Genotype GT is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.
3278	1447948052	Allele T is associated with increased risk of Malignant Hyperthermia as compared to allele G.
3277	1447675326	Genotype GT is associated with increased risk of Malignant Hyperthermia when exposed to halothane, isoflurane or succinylcholine as compared to genotype GG.
3276	1447675311	Genotype GT is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.
3275	1447674304	Allele T is associated with increased risk of Malignant Hyperthermia as compared to allele G.
3274	1447674004	Allele T is associated with increased risk of Malignant Hyperthermia as compared to allele G.
3273	1445297377	Allele T is associated with increased risk of Malignant Hyperthermia when exposed to desflurane, enflurane, halothane, isoflurane, sevoflurane or succinylcholine as compared to allele G.
3272	1445296846	Allele T is associated with increased risk of Malignant Hyperthermia as compared to allele G.
3271	1447674780	Genotype GT is associated with sensitivity to caffeine or halothane in muscle.
3270	1447673616	Allele T is associated with increased sensitivity to caffeine or halothane as compared to allele G.
3269	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
1165	Update	CA score added as part of scoring system release. LOE assigned following curator review.
1164	Update	Drugs kept combined based on specifics of Malignant Hyperthermia diagnostics and CPIC guideline/EMHG inclusion.
1163	Update	Assigned LOE 1A since variant listed in recommendation of CPIC guideline
1162	Update	changed wording from "may be associated with increased/decreased risk of MH" to "may/may not develop MH"
1161	Create

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