粘多糖贮积症7型
Mucopolysaccharidosis type 7
ORPHA:584疾病
定义 英文原文（暂无中文）
A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature), limited vocabulary, intellectual disability, coarse facies with a short neck, pulmonary involvement (predominantly decreased pulmonary function), corneal clouding, and cardiac valve disease.
别名
β-葡糖醛酸糖苷酶缺乏症
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 青少年期、产前、儿童期、婴儿期、新生儿期
- 患病率
- <1 / 1 000 000（Europe）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| GUSB | glucuronidase beta | Disease-causing germline mutation(s) in |
临床表型 26
极常见 99–80%14
- 胸膜异常 HP:0002103
- 胸椎下部前缘鸟喙样凸出 HP:0004607
- 腰椎前缘鸟喙样凸出 HP:0008430
- 腹水 HP:0001541
- 面容粗糙 HP:0000280
- 角膜混浊 HP:0007957
- 骨干发育不全 HP:0005019
- 扁平脸 HP:0012368
- 腹股沟疝 HP:0000023
- 智力障碍 HP:0001249
- 淋巴水肿 HP:0001004
- 反复呼吸道感染 HP:0002205
- 脊柱侧弯 HP:0002650
- 脐疝 HP:0001537
常见 79–30%9
- 髋骨形态异常 HP:0003272
- 骨骺点状钙化 HP:0010655
- 肝炎 HP:0012115
- 胎儿水肿 HP:0001789
- 肌张力减退 HP:0001252
- 关节僵硬 HP:0001387
- 跖内收 HP:0001840
- 粘多糖尿症 HP:0008155
- 脾肿大 HP:0001744
偶见 29–5%3
- 动静脉畸形 HP:0100026
- 胸廓扩张 HP:0100625
- 短颈 HP:0000470
外部标识与链接
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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）