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
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