亚氨基甘氨酸尿症
Iminoglycinuria
ORPHA:42062疾病
定义 英文原文（暂无中文）
A rare inborn error of metabolism characterized by elevated levels of imino acids (proline, hydroxyproline) and glycine in urine due to defective reabsorption in the kidney. The condition is considered benign and not associated with any specific clinical phenotype. Mode of inheritance is autosomal recessive.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 100 000（Europe）
相关基因 4
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SLC6A19 | solute carrier family 6 member 19 | Candidate gene tested in |
| SLC36A2 | solute carrier family 36 member 2 | Disease-causing germline mutation(s) in |
| SLC6A20 | solute carrier family 6 member 20 | Candidate gene tested in |
| SLC6A18 | solute carrier family 6 member 18 | Candidate gene tested in |
临床表型 6
必现 100%3
- 羟脯氨酸尿症 HP:0003080
- 高甘氨酸尿症 HP:0003108
- 脯氨酸尿 HP:0003137
排除 0%3
- 羟脯氨酸血症 HP:0003260
- 高甘氨酸血症 HP:0002154
- 高脯氨酸血症 HP:0008358
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）