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

1445400910

药物名称(英)

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

变异单倍型

rs193922747

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

100.75

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/1445400910

专业人口(英)

专业人口

临床等位基因

id	等位基因	注释文本
814	TT	Patients with the rs193922747 TT 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 genotype CT and CC. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.
813	CT	Patients with the rs193922747 CT genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with genotype TT. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.
812	CC	Patients with the rs193922747 CC genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with genotype TT. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.

临床证据

id	证据的ID	总结
809	1447952457	Genotype CT is associated with increased risk of Malignant Hyperthermia as compared to genotype TT.
808	1447675104	Genotype CT is associated with increased risk of Malignant Hyperthermia as compared to genotype TT.
807	1447674897	Genotypes CC + CT are associated with increased risk of Malignant Hyperthermia when exposed to halothane and succinylcholine as compared to genotype TT.
806	1445296822	Allele C is associated with increased risk of Malignant Hyperthermia as compared to allele T.
805	1447674665	Genotype CT is associated with sensitivity to caffeine or halothane in muscle.
804	1447673436	Allele C is associated with increased sensitivity to caffeine or halothane as compared to allele T.
803	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
1213	Update	CA score added as part of scoring system release. LOE assigned following curator review.
1212	Update	Drugs kept combined based on specifics of Malignant Hyperthermia diagnostics and CPIC guideline/EMHG inclusion.
1211	Update	Assigned LOE 1A since variant listed in recommendation of CPIC guideline
1210	Update	changed wording from "may be associated with increased/decreased risk of MH" to "may/may not develop MH" and updated publications
1209	Create

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