苯妥英,临床注释-2,变异和临床注释数据

苯妥英

临床注释ID

982047500

药物名称(英)

phenytoin

变异单倍型

CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5, CYP2C9*6, CYP2C9*8, CYP2C9*11, CYP2C9*13, CYP2C9*14, CYP2C9*16, CYP2C9*29, CYP2C9*31, CYP2C9*33, CYP2C9*37, CYP2C9*39, CYP2C9*42, CYP2C9*43, CYP2C9*45, CYP2C9*50, CYP2C9*52, CYP2C9*55

基因

CYP2C9

证据级别

水平覆盖

水平修饰符

Tier 1 VIP

表现型类别(英)

Metabolism/PK

表现型类别

代谢/PK

分数

337.125

PMID计数

计数的证据

表现型

癫痫

表现型(英)

Epilepsy

最新日期

2021/10/14 0:00:00

URL

https://www.pharmgkb.org/clinicalAnnotation/982047500

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
629	*55	The CYP2C955 allele has been assigned as a decreased function allele by CPIC. Patients carrying the 55 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
628	*52	The CYP2C952 allele has been assigned as a no function allele by CPIC. Patients carrying the 52 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
627	*50	The CYP2C950 allele has been assigned as a decreased function allele by CPIC. Patients carrying the 50 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
626	*45	The CYP2C945 allele has been assigned as a no function allele by CPIC. Patients carrying the 45 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
625	*43	The CYP2C943 allele has been assigned as a no function allele by CPIC. Patients carrying the 43 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
624	*42	The CYP2C942 allele has been assigned as a no function allele by CPIC. Patients carrying the 42 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
623	*39	The CYP2C939 allele has been assigned as a no function allele by CPIC. Patients carrying the 39 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
622	*37	The CYP2C937 allele has been assigned as a decreased function allele by CPIC. Patients carrying the 37 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
621	*33	The CYP2C933 allele has been assigned as a no function allele by CPIC. Patients carrying the 33 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
620	*31	The CYP2C931 allele has been assigned as a decreased function allele by CPIC. Patients carrying the 31 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
619	*29	The CYP2C929 allele has been assigned as a decreased function allele by CPIC. Patients carrying the 29 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. However, conflicting evidence has been reported. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
618	*16	The CYP2C916 allele has been assigned as a decreased function allele by CPIC. Patients carrying the 16 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
617	*14	The CYP2C914 allele has been assigned as a decreased function allele by CPIC. Patients carrying the 14 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
616	*13	The CYP2C913 allele has been assigned as a no function allele by CPIC. Patients carrying the 13 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
615	*11	The CYP2C911 allele has been assigned as a decreased function allele by CPIC. Patients carrying the 11 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. However, conflicting evidence has been reported. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
614	*8	The CYP2C98 allele has been assigned as a decreased function allele by CPIC. Patients carrying the 8 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
613	*6	The CYP2C96 allele has been assigned as a no function allele by CPIC. Patients carrying the 6 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
612	*5	The CYP2C95 allele has been assigned as a decreased function allele by CPIC. Patients carrying the 5 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
611	*3	The CYP2C93 allele has been assigned as a no function allele by CPIC. Patients carrying the 3 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
610	*2	The CYP2C92 allele has been assigned as a decreased function allele by CPIC. Patients carrying the 2 allele in combination with a normal, decreased, or no function allele may have decreased metabolism/clearance of phenytoin as compared to patients with two normal function alleles. However, conflicting evidence has been reported. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. Other genetic and clinical factors may also influence phenytoin metabolism.
609	*1	The CYP2C91 allele has been assigned as a normal function allele by CPIC. Patients carrying the 1 allele in combination with another normal function allele may have increased metabolism/clearance of phenytoin as compared to patients with a normal function allele in combination with a no or decreased function allele, two no or decreased function alleles, or one decreased function allele in combination with a no function allele. This annotation only covers the pharmacokinetic relationship between CYP2C9 and phenytoin and does not include evidence about clinical outcomes. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence phenytoin metabolism.

临床证据

id	证据的ID	总结
3026	1450969140	CYP2C9 1/2 is associated with increased concentrations of phenytoin as compared to CYP2C9 1/1.
3025	1450969200	CYP2C9 1/3 + 2/2 + 2/3 + 3/3 are associated with increased concentrations of phenytoin as compared to CYP2C9 1/1.
3024	1449565846	CYP2C9 1/2 is not associated with concentrations of phenytoin in children with as compared to CYP2C9 1/1.
3023	1449565832	CYP2C9 1/3 + 2/3 are associated with increased concentrations of phenytoin in children with as compared to CYP2C9 1/1 + 1/2.
3022	1449565742	CYP2C9 55 is associated with decreased clearance of phenytoin as compared to CYP2C9 1.
3021	1449565715	CYP2C9 52 is associated with decreased clearance of phenytoin as compared to CYP2C9 1.
3020	1449565695	CYP2C9 50 is associated with decreased clearance of phenytoin as compared to CYP2C9 1.
3019	1449565648	CYP2C9 45 is associated with decreased clearance of phenytoin as compared to CYP2C9 1.
3018	1449565630	CYP2C9 43 is associated with decreased clearance of phenytoin as compared to CYP2C9 1.
3017	1449565621	CYP2C9 42 is associated with decreased clearance of phenytoin as compared to CYP2C9 1.
3016	1449565594	CYP2C9 39 is associated with decreased clearance of phenytoin as compared to CYP2C9 1.
3015	1449565576	CYP2C9 37 is associated with decreased clearance of phenytoin as compared to CYP2C9 1.
3014	1449565549	CYP2C9 33 is associated with decreased clearance of phenytoin as compared to CYP2C9 1.
3013	1449565540	CYP2C9 31 is associated with decreased clearance of phenytoin as compared to CYP2C9 1.
3012	1449565531	CYP2C9 29 is not associated with clearance of phenytoin as compared to CYP2C9 1.
3011	1449565493	CYP2C9 16 is associated with decreased clearance of phenytoin as compared to CYP2C9 1.
3010	1449565484	CYP2C9 14 is associated with decreased clearance of phenytoin as compared to CYP2C9 1.
3009	1449565471	CYP2C9 13 is associated with decreased clearance of phenytoin as compared to CYP2C9 1.
3008	1449565462	CYP2C9 11 is not associated with clearance of phenytoin as compared to CYP2C9 1.
3007	1449565453	CYP2C9 8 is associated with decreased clearance of phenytoin as compared to CYP2C9 1.
3006	1449565442	CYP2C9 3 is associated with decreased clearance of phenytoin as compared to CYP2C9 1.
3005	1449565430	CYP2C9 2 is not associated with clearance of phenytoin as compared to CYP2C9 1.
3004	1449565369	CYP2C9 1/3 is associated with increased concentrations of phenytoin in children.
3003	1449565307	CYP2C9 *3 is associated with increased concentrations of phenytoin.
3002	1448994156	CYP2C9 1/3 is associated with increased concentrations of phenytoin in people with Epilepsy as compared to CYP2C9 1/1.
3001	1448612922	CYP2C9 1/3 is associated with increased concentrations of phenytoin in people with Epilepsy as compared to CYP2C9 1/1.
3000	982046637	CYP2C9 1/2 is associated with decreased phenytoin metabolic clearance (PMC) and phenytoin metabolic ratio (PMR) when exposed to phenytoin in healthy individuals as compared to CYP2C9 1/1.
2999	982046630	CYP2C9 1/3 is associated with decreased phenytoin metabolic clearance (PMC) and phenytoin metabolic ratio (PMR) when exposed to phenytoin in healthy individuals as compared to CYP2C9 1/1.
2998	982046623	CYP2C9 1/1 is associated with increased the maximal elimination rate (Vmax) when treated with phenytoin in Epilepsy as compared to CYP2C9 1/3.
2997	982046605	CYP2C9 1/3 is associated with decreased the mean maximal elimination rate (Vmax) when treated with phenytoin in Epilepsy as compared to CYP2C9 1/1.
2996	982046599	CYP2C9 1/1 is associated with increased the intrinsic metabolic activity (V(max)/K(m)) when exposed to phenytoin in children Epilepsy as compared to CYP2C9 1/3.
2995	982046592	CYP2C9 1/1 is associated with increased the mean maximal elimination rates (V(max)) when exposed to phenytoin in children Epilepsy as compared to CYP2C9 1/3.
2994	981859021	CYP2C9 1/1 is associated with decreased plasma concentration when exposed to phenytoin in healthy individuals as compared to CYP2C9 1/3.
2993	981859014	CYP2C9 1/1 is associated with decreased plasma concentration when exposed to phenytoin in healthy individuals as compared to CYP2C9 2/2.
2992	981858971	CYP2C9 1/1 is associated with decreased plasma concentration when exposed to phenytoin in healthy individuals as compared to CYP2C9 1/2.
2991	769249016	Allele G is associated with decreased metabolism of phenytoin in people with no disease as compared to genotype CC.
2990	769250031	Genotype AC is associated with decreased metabolism of phenytoin in people with Epilepsy as compared to genotype AA.
2989	769248929	Allele C is associated with increased plasma free phenytoin concentration when treated with phenytoin in people with Epilepsy as compared to allele A.
2988	769250083	Allele C is associated with decreased metabolism of phenytoin.
2987	769249040	Allele T is associated with increased metabolism of phenytoin in people with no disease as compared to genotype CC.
2986	1451148748	Allele A is associated with decreased catalytic activity of CYP2C9 when assayed with flurbiprofen, naproxen, phenytoin or warfarin as compared to allele C.
2985	769249041	Allele del is associated with decreased metabolism of phenytoin in people with no disease as compared to genotype AA.
2984	769249039	Allele A is associated with decreased metabolism of phenytoin in people with no disease as compared to genotype GG.
2983	769250082	Allele T is not associated with decreased metabolism of phenytoin.
2982	769250028	Genotype CT is associated with decreased metabolism of phenytoin in people with Epilepsy as compared to genotype CC.
2981	769248925	Allele T is associated with increased plasma free phenytoin concentration when treated with phenytoin in people with Epilepsy as compared to genotype CC.
2980	PA166104860	Annotation of FDA Label for phenytoin and CYP2C19, CYP2C9, HLA-B
2979	PA166104984	Annotation of DPWG Guideline for phenytoin and CYP2C9
2978	PA166122806	Annotation of CPIC Guideline for fosphenytoin, phenytoin and CYP2C9, HLA-B
982	1445388514	CYP2C9 1/1 + 1/2 are not associated with dose-adjusted trough concentrations of phenytoin in people with Epilepsy.
981	981859049	CYP2C9 1/3 is associated with increased steady state concentration per dosage when treated with phenytoin in Epilepsy as compared to CYP2C9 1/1.
980	1450969293	CYP2C9 1/3 + 2/2 + 2/3 + 3/3 are associated with decreased dose of phenytoin as compared to CYP2C9 1/1.

临床病史

id	类型	评论
863	Update	Added FDA label as evidence
862	Update	CA score added as part of scoring system release. LOE assigned following curator review.
861	Update	Added DPWG guideline
860	Update	Added CPIC guideline and edited phenotype descriptions
859	Update	11 and 29 already had comment about contradictory evidence, added sentence to *2 about some no association studies..
858	Update	added alleles, modified text to allele description
857	Update	Added PMID 32457604 to evidence
856	Update	Added PMID 29288229 to evidence
855	Update	Added PMID 25998968 to evidence
854	Update	Added PMID 25994870 to evidence
853	Update	Added PMID 25597548 to evidence
852	Update	Added 1/2 annotation
851	Update	CPIC

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