Usher综合征1型
Usher syndrome type 1
ORPHA:231169疾病亚型
定义 英文原文（暂无中文）
A rare ciliopathy characterized by profound congenital deafness, retinitis pigmentosa and vestibular dysfunction. Retinitis pigmentosa results in visual loss and generally manifests as night blindness, progressively constricted visual fields, and impaired visual acuity. Vestibular dysfunction a defining feature of this form, manifests as delayed motor development with affected infants taking longer to sit independently and to walk. Later on, vestibular dysfunction results in difficulty with activities requiring balance.
别名
USH1
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- 1-9 / 100 000（Denmark）
相关基因 9
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CDH23 | cadherin related 23 | Disease-causing germline mutation(s) (loss of function) in |
| USH1C | USH1 protein network component harmonin | Disease-causing germline mutation(s) (loss of function) in |
| USH1G | USH1 protein network component sans | Disease-causing germline mutation(s) (loss of function) in |
| MYO7A | myosin VIIA | Disease-causing germline mutation(s) (loss of function) in |
| PCDH15 | protocadherin related 15 | Disease-causing germline mutation(s) (loss of function) in |
| USH1E | Usher syndrome 1E (autosomal recessive, severe) | Disease-causing germline mutation(s) in |
| ESPN | espin | Disease-causing germline mutation(s) in |
| USH1H | Usher syndrome 1H (autosomal recessive) | Disease-causing germline mutation(s) in |
| USH1K | Usher syndrome 1K (autosomal recessive) | Disease-causing germline mutation(s) in |
临床表型 16
极常见 99–80%7
- 耳蜗异常 HP:0000375
- 视网膜电图异常 HP:0000512
- 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
- 视力丧失 HP:0000572
常见 79–30%7
- 前庭功能异常 HP:0001751
- 白内障 HP:0000518
- 语言发育迟缓 HP:0000750
- 步态失平衡 HP:0002141
- 运动发育迟缓 HP:0001270
- 周边视野缺失 HP:0007994
- 视力下降 HP:0007663
偶见 29–5%2
- 焦虑 HP:0000739
- 抑郁 HP:0000716
外部标识与链接
OrphanetOMIM:276900OMIM:276904OMIM:601067MONDO:0010168GARD:5435ICD-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）