唾液酸尿症
Sialuria
定义 英文原文（暂无中文）
A rare disorder of sialic acid metabolism characterized by excretion of large quantities of free sialic acid (predominantly N-acetylneuraminic acid without any morphologic evidence of storage within any subcellular organelle), mildly coarse facial features and hepatosplenomegaly. Growth and development are rather normal, however some affected individuals were reported to have moderate developmental delay, slight motor delay and mild intellectual impairment. Additional clinical features may involve macrocephaly, mild small airway obstruction, frequent upper respiratory tract infections, transient failure to thrive, seizures and sleep apnea. Signs and symptoms can be transient, especially in infancy.
别名
唾液酸尿症，法国型
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 婴儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Disease-causing germline mutation(s) in |
临床表型 36
极常见 99–80%35
- 第二、三脚趾并趾 HP:0004691
- 面部形状异常 HP:0001999
- 代谢紊乱/稳态失衡 HP:0001939
- 线粒体异常 HP:0012103
- 注意力缺陷多动障碍 HP:0007018
- 胆石症 HP:0001081
- 面容粗糙 HP:0000280
- 多发性骨发育不全 HP:0000943
- 循环肝转氨酶水平升高 HP:0002910
- 内眦赘皮 HP:0000286
- 阵发性腹痛 HP:0002574
- 语言表达延迟 HP:0002474
- 全身性肌张力减低 HP:0001290
- 肝脏肿大 HP:0002240
- 肝脾肿大 HP:0001433
- 腭高而窄 HP:0002705
- 声音嘶哑 HP:0001609
- 运动过多 HP:0002487
- 眼距过宽 HP:0000316
- 轻度智力障碍 HP:0001256
- 关节过度活动 HP:0001382
- 长拇趾 HP:0001847
- 低位耳 HP:0000369
- 记忆障碍 HP:0002354
- 眶周丰满 HP:0000629
- 部分凝血活酶时间延长 HP:0003645
- 凝血酶原时间延长 HP:0008151
- 前额中央突出 HP:0011220
- 癫痫发作 HP:0001250
- 睡眠呼吸暂停 HP:0010535
- 人中扁平 HP:0000319
- 神经性脊柱关节病 HP:0008443
- 薄上唇红 HP:0000219
- 上气道阻塞 HP:0002781
- 宽鼻梁 HP:0000431
偶见 29–5%1
- 全面发育迟缓 HP:0001263
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）