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Usher综合征2型

Usher syndrome type 2

ORPHA:231178疾病亚型

定义 英文原文（暂无中文）

A rare ciliopathy characterized by congenital moderate-to-severe deafness, retinitis pigmentosa developing in the first or second decade, and normal vestibular function. Congenital bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Additional manifestations include night blindness, constricted visual field (tunnel vision), and later on decreased visual acuity sometimes ending with bare light perception.

别名

USH2

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 5

基因名称关联类型
USH2AusherinDisease-causing germline mutation(s) in
ADGRV1adhesion G protein-coupled receptor V1Disease-causing germline mutation(s) in
MYO7Amyosin VIIADisease-causing germline mutation(s) in
WHRNwhirlinDisease-causing germline mutation(s) in
PDZD7PDZ domain containing 7Modifying germline mutation in

临床表型 21

极常见 99–80%7

  • 视网膜电图异常 HP:0000512
  • 内耳异常 HP:0000359
  • 虹膜色素减退 HP:0007730
  • 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%8

  • 白内障 HP:0000518
  • 周边性视野狭窄 HP:0001133
  • 疲乏 HP:0012378
  • 近视 HP:0000545
  • 夜盲症 HP:0000662
  • 周边视野缺失 HP:0007994
  • 视力下降 HP:0007663
  • 睡眠异常 HP:0002360

偶见 29–5%5

  • 焦虑 HP:0000739
  • 色觉缺陷 HP:0000551
  • 抑郁 HP:0000716
  • 步态失平衡 HP:0002141
  • 对比敏感度降低 HP:0032036

罕见 <4–1%1

  • 前庭功能异常 HP:0001751

外部标识与链接

OrphanetOMIM:276901OMIM:605472OMIM:611383MONDO:0016484GARD:5440ICD-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）