先天性脊椎-心脏-肾脏异常综合症
Congenital vertebral-cardiac-renal anomalies syndrome
ORPHA:521438疾病
定义 英文原文（暂无中文）
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others.
别名
先天性NAD缺乏症
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| KYNU | kynureninase | Disease-causing germline mutation(s) (loss of function) in |
| HAAO | 3-hydroxyanthranilate 3,4-dioxygenase | Disease-causing germline mutation(s) (loss of function) in |
| NADSYN1 | NAD synthetase 1 | Disease-causing germline mutation(s) in |
外部标识与链接
OrphanetOMIM:617660OMIM:617661OMIM:618845MONDO:0020831ICD-10 Q87.8ICD-11 LD2F.1YClinicalTrials.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）