Usher综合征3型
Usher syndrome type 3
ORPHA:231183疾病亚型
定义 英文原文（暂无中文）
A rare ciliopathy characterized by progressive hearing and visual loss in the first decades of life and, in some cases, vestibular dysfunction. Patients have normal hearing at birth. Onset of hearing loss is usually in late childhood or adolescence after development of speech. Profound deafness is mostly reported by middle age. Retinitis pigmentosa related visual loss also develops in late childhood or adolescence. Developmental motor milestones are generally normal but vestibular dysfunction may occur in adulthood.
别名
USH3
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 青少年期、儿童期
- 患病率
- 1-9 / 1 000 000（Denmark）
相关基因 5
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CLRN1 | clarin 1 | Disease-causing germline mutation(s) in |
| MT-TS2 | mitochondrially encoded tRNA-Ser (AGU/C) 2 | Disease-causing germline mutation(s) in |
| HARS1 | histidyl-tRNA synthetase 1 | Disease-causing germline mutation(s) in |
| CEP78 | centrosomal protein 78 | Disease-causing germline mutation(s) in |
| ARSG | arylsulfatase G | Disease-causing germline mutation(s) in |
临床表型 12
极常见 99–80%9
- 耳蜗异常 HP:0000375
- 视网膜电图异常 HP:0000512
- 虹膜色素减退 HP:0007730
- 夜盲症 HP:0000662
- 杆锥体营养不良 HP:0000510
- 盲点 HP:0000575
- 感音神经性听力受损 HP:0000407
- 前庭反射减弱 HP:0001756
- 视力丧失 HP:0000572
偶见 29–5%3
- 前庭功能异常 HP:0001751
- 焦虑 HP:0000739
- 抑郁 HP:0000716
外部标识与链接
OrphanetOMIM:276902OMIM:500004OMIM:614504MONDO:0016485GARD:5442ICD-10 H35.5ICD-11 LD2H.4ClinicalTrials.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）