链霉素,临床注释-2,变异和临床注释数据

链霉素

临床注释ID

1451434900

药物名称(英)

streptomycin

变异单倍型

rs267606617

基因

MT-RNR1

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

107

PMID计数

34

计数的证据

35

表现型

耳毒性

表现型(英)

Ototoxicity

最新日期

2021/6/15 0:00:00

URL

https://www.pharmgkb.org/clinicalAnnotation/1451434900

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
1020	G	The rs267606617 G allele (also known as the 1555G allele) is assigned as a MT-RNR1 increased risk of aminoglycoside-induced hearing loss allele by CPIC. Patients with the G allele may have an increased risk of experiencing hearing loss when treated with streptomycin as compared to patients with the A allele. However, conflicting evidence has been reported. MT-RNR1 is a mitochondrial gene and is inherited as a haploid (i.e. there is only ever one allele present). Other genetic and clinical factors may also influence risk of hearing loss when treated with streptomycin.
1019	A	The rs267606617 A allele (also known as the 1555A allele) is assigned as a MT-RNR1 normal risk of aminoglycoside-induced hearing loss allele by CPIC. Patients with the A allele may have a decreased, but not absent, risk of experiencing hearing loss when treated with streptomycin as compared to patients with the G allele. However, conflicting evidence has been reported. MT-RNR1 is a mitochondrial gene and is inherited as a haploid (i.e. there is only ever one allele present). Other genetic and clinical factors may also influence risk of hearing loss when treated with streptomycin.

临床证据

id	证据的ID	总结
4791	1451440086	Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials or streptomycin.
4790	1451438424	Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials, gentamicin, kanamycin or streptomycin.
4789	1451437874	Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials or streptomycin.
1958	1451437860	Allele G is associated with increased affinity to MT-RNR1 of gentamicin, kanamycin, neomycin, paromomycin, streptomycin or tobramycin.
1957	1451437800	Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials, gentamicin or streptomycin.
1956	1451437675	Allele G is associated with increased risk of Ototoxicity when treated with streptomycin.
1955	1451437580	Allele G is associated with increased risk of Ototoxicity when treated with aminoglycoside antibacterials, gentamicin, kanamycin or streptomycin.
1954	1451437464	Allele G is not associated with activity of MT-RNR1 when exposed to streptomycin in cybrids.
1953	1451436622	Allele G is associated with increased risk of Ototoxicity when treated with streptomycin.
1952	1451436280	Allele G is associated with decreased activity of MT-RNR1 when exposed to streptomycin in HeLa cells.
1951	1446897414	Allele G is associated with Ototoxicity when treated with isepamicin or streptomycin as compared to allele A.
1950	1444697075	Allele G is associated with Ototoxicity when treated with streptomycin as compared to allele A.
1949	1444697046	Allele G is associated with Ototoxicity when treated with streptomycin as compared to allele A.
1948	1444697037	Allele G is associated with Ototoxicity when treated with streptomycin as compared to allele A.
1947	1444697006	Allele G is associated with Ototoxicity when treated with amikacin, gentamicin, kanamycin, neomycin or streptomycin as compared to allele A.
1946	1444696916	Allele G is associated with Ototoxicity when treated with streptomycin as compared to allele A.
1945	1444697442	Allele G is associated with Ototoxicity when treated with amikacin, gentamicin or streptomycin as compared to allele A.
1944	1444697293	Allele G is associated with Ototoxicity when treated with gentamicin or streptomycin as compared to allele A.
1943	1444697250	Allele G is associated with Ototoxicity when treated with gentamicin or streptomycin as compared to allele A.
1942	1444697241	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials, gentamicin or streptomycin as compared to allele A.
1941	1444697228	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials, gentamicin or streptomycin as compared to allele A.
1940	1444697212	Allele G is associated with Ototoxicity when treated with streptomycin as compared to allele A.
1939	1444697188	Allele G is associated with Ototoxicity when treated with gentamicin, kanamycin or streptomycin as compared to allele A.
1938	1444697179	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials or streptomycin as compared to allele A.
1937	1444697155	Allele G is associated with Ototoxicity when treated with gentamicin, kanamycin or streptomycin as compared to allele A.
1936	1444697145	Allele G is associated with Ototoxicity when treated with streptomycin as compared to allele A.
1935	1444697136	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials, gentamicin, kanamycin or streptomycin as compared to allele A.
1934	1444697120	Allele G is associated with Ototoxicity when treated with streptomycin as compared to allele A.
1933	1444696940	Allele G is associated with Ototoxicity when treated with gentamicin, kanamycin or streptomycin as compared to allele A.
1932	1184510153	Allele G is associated with Ototoxicity when treated with aminoglycoside antibacterials, gentamicin, kanamycin or streptomycin in children as compared to allele A.
1931	1444697353	Allele G is associated with Ototoxicity when treated with gentamicin or streptomycin in children with as compared to allele A.
1930	1444697127	Allele G is associated with Ototoxicity when treated with streptomycin as compared to allele A.
1929	1444697015	Allele G is associated with Ototoxicity when treated with streptomycin as compared to allele A.
1928	1444696947	Allele G is associated with Ototoxicity when treated with streptomycin as compared to allele A.
1927	PA166229081	Annotation of CPIC Guideline for amikacin, gentamicin, kanamycin, paromomycin, plazomicin, streptomycin, tobramycin and MT-RNR1

临床病史

id	类型	评论
786	Update	Added CPIC guideline to evidence and edited phenotype descriptions
785	Update	Added PMID 23256547 to evidence
784	Update	Added PMID 21205314 to evidence
783	Update	Added PMID 19835846 to evidence
782	Update	Added PMID 19687236 to evidence
781	Update	Added PMID 18386806 to evidence
780	Update	Added PMID 16935512 to evidence
779	Update	Added PMID 16152638 to evidence
778	Update	Added PMID 12054632 to evidence
777	Update	Added PMID 11870684 to evidence
776	Update	Added PMID 8687424 to evidence
775	Note	Checked by second curator before approval
774	Create	Created

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