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当前位置:药药网 / 数据中心 / 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
1183705807
药物名称(英)
desflurane;enflurane;halothane;isoflurane;methoxyflurane;sevoflurane;succinylcholine
变异单倍型
rs118192177
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
103.25
PMID计数
22
计数的证据
25
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/1183705807
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
856
TT
Patients with the rs118192177 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 CC genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.
855
GG
Patients with the rs118192177 GG 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 CC genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.
854
CT
Patients with the rs118192177 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 the CC genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.
853
CG
Patients with the rs118192177 CG 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 CC genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.
852
CC
Patients with the rs118192177 CC 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 TT, CT, CG, or 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
171
1449160096
Allele T is associated with increased risk of Death and Malignant Hyperthermia when exposed to succinylcholine and volatile anesthetics as compared to allele C.
170
1447987507
Allele T is associated with increased risk of Malignant Hyperthermia as compared to allele C.
169
1447960985
Allele T is associated with increased risk of Malignant Hyperthermia as compared to allele C.
168
1447960682
Allele T is associated with increased risk of Malignant Hyperthermia as compared to allele C.
167
1447952512
Genotype CT is associated with increased risk of Malignant Hyperthermia as compared to genotype CC.
166
1447948638
Genotype CG is associated with increased risk of Malignant Hyperthermia when exposed to succinylcholine and volatile anesthetics as compared to genotype CC.
165
1447675422
Genotype CT is associated with increased risk of Malignant Hyperthermia, Myopathy, Central Core and Rhabdomyolysis as compared to genotype CC.
164
1447674570
Genotype CT is associated with increased risk of Malignant Hyperthermia when exposed to isoflurane and succinylcholine as compared to genotype CC.
163
1447674371
Genotype CT is associated with increased risk of Malignant Hyperthermia as compared to genotype CC.
162
1447674246
Genotype CT is associated with increased risk of Malignant Hyperthermia as compared to genotype CC.
161
1447674091
Allele T is associated with increased risk of Malignant Hyperthermia as compared to allele C.
160
1447673851
Genotype CT is associated with increased risk of Malignant Hyperthermia as compared to genotype CC.
159
1447673805
Genotype CG is associated with increased risk of Malignant Hyperthermia when exposed to halothane and succinylcholine as compared to genotype CC.
158
1447672579
Allele T is associated with increased risk of Malignant Hyperthermia as compared to allele C.
157
1447672498
Allele T is associated with Malignant Hyperthermia as compared to allele C.
156
1447672437
Genotype CT is associated with Malignant Hyperthermia as compared to genotype CC.
155
1447644820
Allele T is associated with increased risk of Malignant Hyperthermia as compared to allele C.
154
1447634887
Allele T is associated with Malignant Hyperthermia as compared to allele C.
153
1447521869
Allele T is associated with Malignant Hyperthermia and multi-core congenital myopathy as compared to allele C.
152
1445400684
Allele T is associated with increased risk of Malignant Hyperthermia as compared to allele C.
151
1444698000
Allele T is associated with increased risk of Malignant Hyperthermia as compared to allele C.
150
1444697837
Allele T is associated with increased risk of Malignant Hyperthermia as compared to allele C.
149
1184510583
Allele T is associated with increased risk of Malignant Hyperthermia when exposed to desflurane, enflurane, halothane, isoflurane, sevoflurane or succinylcholine as compared to allele C.
148
1447674808
Genotype CT is associated with sensitivity to caffeine or halothane in muscle.
147
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
1277
Update
CA score added as part of scoring system release. LOE assigned following curator review.
1276
Update
Drugs kept combined based on specifics of Malignant Hyperthermia diagnostics and CPIC guideline/EMHG inclusion.
1275
Update
Assigned LOE 1A since variant listed in recommendation of CPIC guideline
1274
Update
Added PMID 25268394
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