七氟醚,临床注释-2,变异和临床注释数据

七氟醚

临床注释ID

1451263973

药物名称(英)

sevoflurane

变异单倍型

rs1800559

基因

CACNA1S

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

100.5

PMID计数

4

计数的证据

6

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/1451263973

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
1082	TT	Patients with the rs1800559 TT genotype may have increased risk for malignant hyperthermia when treated with sevoflurane as compared to patients with the CC genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.
1081	CT	Patients with the rs1800559 CT genotype may have increased risk for malignant yperthermia when treated with sevoflurane as compared to patients with the CC genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.
1080	CC	Patients with the rs1800559 CC genotype may have a decreased risk for malignant hyperthermia when treated with sevoflurane as compared to patients with the 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
1994	1444697679	Allele T is associated with increased risk of Malignant Hyperthermia when exposed to caffeine or halothane as compared to allele C.
1993	1449565023	Allele T is associated with increased activity of CACNA1S in HEK-293 cells and dysgenic myotubes as compared to allele C.
1992	1449565015	Allele T is associated with increased sensitivity to caffeine in HEK-293 cells and dysgenic myotubes as compared to allele C.
1991	1447952570	Genotype CT is associated with increased risk of Malignant Hyperthermia as compared to genotype CC.
1990	1447674037	Genotype CT is associated with increased risk of Malignant Hyperthermia as compared to genotype CC.
1989	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
1559	Update	CA score added as part of scoring system release. LOE assigned following curator review.
1558	Create	Created
1557	Note	New annotation, was part of 1445401008 but this was split into separate annotations for each drug as part of new formatting.

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