肾缺如，双侧
Renal agenesis, bilateral
ORPHA:1848疾病亚型
定义 英文原文（暂无中文）
A form of renal agenesis characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前、新生儿期
- 患病率
- 1-9 / 100 000（Europe）
相关基因 6
| 基因 | 名称 | 关联类型 |
|---|---|---|
| RET | ret proto-oncogene | Disease-causing germline mutation(s) (loss of function) in |
| ITGA8 | integrin subunit alpha 8 | Disease-causing germline mutation(s) in |
| FGF20 | fibroblast growth factor 20 | Disease-causing germline mutation(s) (loss of function) in |
| GREB1L | GREB1 like retinoic acid receptor coactivator | Disease-causing germline mutation(s) (loss of function) in |
| WNT9B | Wnt family member 9B | Disease-causing germline mutation(s) (loss of function) in |
| GFRA1 | GDNF family receptor alpha 1 | Disease-causing germline mutation(s) in |
临床表型 18
极常见 99–80%8
- 鼻嵴凹陷 HP:0000457
- 内眦赘皮 HP:0000286
- 眼距过宽 HP:0000316
- 低位耳 HP:0000369
- 非酮症性低血糖 HP:0001958
- 羊水过少 HP:0001562
- 肺发育不良 HP:0002089
- 肾缺如 HP:0000104
常见 79–30%6
- 心血管系统形态异常 HP:0030680
- 小肠形态异常 HP:0002242
- 骶骨形态异常 HP:0005107
- 胎儿多尿 HP:0001563
- 气管食管瘘 HP:0002575
- 泌尿生殖道瘘 HP:0100589
偶见 29–5%4
- 女性内生殖器形态异常 HP:0000008
- 腭裂 HP:0000175
- 上唇非中线裂 HP:0100335
- 美人鱼综合症（并腿畸形） HP:0010497
外部标识与链接
OrphanetOMIM:191830OMIM:615721OMIM:617805MONDO:0015986ICD-10 Q60.1ICD-11 LB30.00ClinicalTrials.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）