线粒体非综合征性感音神经性聋
Mitochondrial non-syndromic sensorineural deafness
ORPHA:90641疾病亚型
别名
线粒体非综合征型感音神经性听觉丧失
基本事实
- 遗传方式
- 线粒体遗传
- 发病年龄
- 儿童期、婴儿期
相关基因 8
| 基因 | 名称 | 关联类型 |
|---|---|---|
| POU3F4 | POU class 3 homeobox 4 | Disease-causing germline mutation(s) in |
| TFB1M | transcription factor B1, mitochondrial | Modifying germline mutation in |
| TRMU | tRNA mitochondrial 2-thiouridylase | Modifying germline mutation in |
| MT-CO1 | mitochondrially encoded cytochrome c oxidase I | Disease-causing germline mutation(s) in |
| MT-ND4 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Candidate gene tested in |
| MT-RNR1 | mitochondrially encoded 12S rRNA | Disease-causing germline mutation(s) in |
| MT-TH | mitochondrially encoded tRNA-His (CAU/C) | Disease-causing germline mutation(s) in |
| MT-TS1 | mitochondrially encoded tRNA-Ser (UCN) 1 | Disease-causing germline mutation(s) in |
外部标识与链接
OrphanetOMIM:221745OMIM:304400OMIM:500008MONDO:0010779ICD-10 H90.3ICD-11 8C73.YClinicalTrials.gov 检索
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）