甲唑胺,临床注释-2,变异和临床注释数据

甲唑胺

临床注释ID

1184997207

药物名称(英)

methazolamide

变异单倍型

HLA-B*59:01:01:01

基因

HLA-B

证据级别

2A

水平覆盖

水平修饰符

Tier 1 VIP

表现型类别(英)

Toxicity

表现型类别

毒性

分数

8.75

PMID计数

6

计数的证据

6

表现型

表皮坏死松解症，有毒；史蒂文斯-约翰逊综合征

表现型(英)

Epidermal Necrolysis, Toxic;Stevens-Johnson Syndrome

最新日期

2021/3/24 0:00:00

URL

https://www.pharmgkb.org/clinicalAnnotation/1184997207

专业人口(英)

专业人口

临床等位基因

id	等位基因	注释文本
728	*59:01:01:01	Patients with one or two copies of the HLA-B59:01:01:01 allele may have an increased risk of severe cutaneous adverse reactions, such as Stevens-Johnson Syndrome and toxic epidermal necrolysis, when treated with methazolamide as compared to patients with no HLA-B59:01:01:01 alleles or negative for the HLA-B*59:01:01:01 test. Other genetic and clinical factors may also influence risk of methazolamide-induced adverse reactions.

临床证据

id	证据的ID	总结
348	1450397876	HLA-B *59:01:01:01 is associated with increased risk of Epidermal Necrolysis, Toxic or Stevens-Johnson Syndrome when treated with methazolamide.
347	1448530438	HLA-B *59:01:01:01 is associated with Epidermal Necrolysis, Toxic when treated with methazolamide in women with Glaucoma.
346	1444709192	HLA-B *59:01:01:01 is associated with Epidermal Necrolysis, Toxic when treated with methazolamide in people with Glaucoma.
345	1444706649	HLA-B *59:01:01:01 is associated with increased risk of Epidermal Necrolysis, Toxic and Stevens-Johnson Syndrome when treated with methazolamide.
344	1184415386	HLA-B *59:01:01:01 is associated with increased risk of severe cutaneous adverse reactions when treated with methazolamide.
343	1184349250	HLA-B *59:01:01:01 is associated with Stevens-Johnson Syndrome when treated with methazolamide in people with Glaucoma.

临床病史

id	类型	评论
1013	Update	CA score added as part of scoring system release. LOE assigned following curator review.
1012	Update	Small edit to text to match template.
1011	Update	Updated OMB race to appropriate biogeographical group
1010	Update
1009	Create	Created

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