巯基嘌呤,临床注释-2,变异和临床注释数据

巯基嘌呤

临床注释ID

1451237200

药物名称(英)

mercaptopurine

变异单倍型

TPMT*1, TPMT*2, TPMT*3A, TPMT*3B, TPMT*3C, TPMT*9

基因

TPMT

证据级别

水平覆盖

水平修饰符

Tier 1 VIP

表现型类别(英)

Dosage

表现型类别

剂量

分数

221.25

PMID计数

计数的证据

表现型

减少剂量

表现型(英)

dose reduction

最新日期

2021/6/8 0:00:00

URL

https://www.pharmgkb.org/clinicalAnnotation/1451237200

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
898	*9	The TPMT9 allele is assigned as a no function allele by DPWG. Patients with the TPMT9 allele, in combination with a normal function allele or a no function allele, may have an increased likelihood of dose reduction when treated with mercaptopurine as compared to patients with two normal function alleles. However, conflicting evidence has been reported. Note that CPIC assigned TPMT*9 as an uncertain function allele. Other genetic and clinical factors may also influence mercaptopurine dosage.
897	*3C	The TPMT3C allele is assigned as a no function allele by CPIC. Patients with the TPMT3C allele, in combination with a normal function allele or a no function allele, may have an increased likelihood of dose reduction when treated with mercaptopurine as compared to patients with two normal function alleles. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence mercaptopurine dosage.
896	*3B	The TPMT3B allele is assigned as a no function allele by CPIC. Patients with the TPMT3B allele, in combination with a normal function allele or a no function allele, may have an increased likelihood of dose reduction when treated with mercaptopurine as compared to patients with two normal function alleles. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence mercaptopurine dosage.
895	*3A	The TPMT3A allele is assigned as a no function allele by CPIC. Patients with the TPMT3A allele, in combination with a normal function allele or a no function allele, may have an increased likelihood of dose reduction when treated with mercaptopurine as compared to patients with two normal function alleles. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence mercaptopurine dosage.
894	*2	The TPMT2 allele is assigned as a no function allele by CPIC. Patients with the TPMT2 allele, in combination with a normal function allele or a no function allele, may have an increased likelihood of dose reduction when treated with mercaptopurine as compared to patients with two normal function alleles. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence mercaptopurine dosage.
893	*1	The TPMT1 allele is assigned as a normal allele by CPIC. Patients carrying the TPMT1 allele in combination with another normal function allele may have decreased likelihood of dose reduction when treated with mercaptopurine as compared to patients with one or two no function alleles. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence mercaptopurine dosage.

临床证据

id	证据的ID	总结
3332	1353450854	TPMT 1/3A is associated with decreased dose of mercaptopurine or thioguanine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
3331	1356539101	TPMT 1/3C is associated with decreased dose of mercaptopurine or thioguanine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
3330	1449750276	TPMT 1/3C is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
3329	1448576445	TPMT 1/2 + 1/3A are associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
3328	1448260658	TPMT 1/3A is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
3327	1448256071	TPMT 1/3A is associated with increased likelihood of dose reduction when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
3326	1333193294	TPMT 1/2 + 1/3A + 1/3C + 1/9 + 1/21 + 1/33 + 1/34 is associated with decreased dose of mercaptopurine or thioguanine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
3325	1184521242	TPMT 1/3A + 1/3C is associated with decreased dose of azathioprine, mercaptopurine or purine analogues in people with Inflammatory Bowel Diseases as compared to TPMT 1/1.
3324	1184518608	TPMT 1/3A + 1/3C + 3A/3A are associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
3323	1184467044	TPMT 3A/3A is associated with decreased dose of mercaptopurine in people with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
3322	1184467037	TPMT 3A/3C is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
3321	1184348458	TPMT 1/3C is associated with increased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
3320	1184348438	TPMT 1/3A is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
3319	1184282060	TPMT 1/3C + 1/2 + 1/3A is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
3318	1184169832	TPMT 1/3A is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
3317	1184134384	TPMT 1/3A is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
3316	1184134089	TPMT 1/2 + 1/3A is associated with decreased dose of azathioprine, mercaptopurine or purine analogues in children with Inflammatory Bowel Diseases as compared to TPMT 1/1.
3315	1184134029	TPMT 2 + 3A + 3B + 3C is associated with decreased dose of azathioprine, mercaptopurine or purine analogues in children with Inflammatory Bowel Diseases as compared to TPMT *1.
3314	981501231	TPMT 1/1 is associated with increased dose of mercaptopurine and methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/3A.
3313	1449311070	Genotype GG is not associated with dose of mercaptopurine or methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CG.
3312	1449311061	Genotype TT is not associated with dose of mercaptopurine or methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.
3311	1447682783	Genotype CT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype TT.
3310	1444703337	Genotype CC is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CT + TT.
3309	1444705000	TPMT intermediate metabolizer phenotype is associated with increased likelihood of treatment modification when treated with mercaptopurine and methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT normal metabolizer phenotype.
3308	1184348827	TPMT poor metabolizer phenotype is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
3307	PA166104952	Annotation of DPWG Guideline for mercaptopurine and TPMT
3306	PA166104945	Annotation of CPIC Guideline for mercaptopurine and NUDT15, TPMT

临床病史

id	类型	评论
1328	Update	Added *9 and attached DPWG guideline.
1327	Update	CA score added as part of scoring system release. LOE assigned following curator review.
1326	Update	Attached CPIC guideline and removed override. Added CPIC function and modified text.
1325	Correction	Corrected to 1A
1324	Create	Created

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