肾消耗病
Nephronophthisis
ORPHA:655疾病
定义 英文原文（暂无中文）
A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 青少年期、成年期、产前、儿童期、婴儿期、新生儿期
- 患病率
- 1-9 / 100 000（Finland）
相关基因 14来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| ADAMTS9 | ADAM metallopeptidase with thrombospondin type 1 motif 9 | ORPHA:93592 |
| ANKS6 | ankyrin repeat and sterile alpha motif domain containing 6 | ORPHA:93592 |
| CEP83 | centrosomal protein 83 | ORPHA:93591 |
| GLIS2 | GLIS family zinc finger 2 | ORPHA:93592 |
| INVS | inversin | ORPHA:93591 |
| MAPKBP1 | mitogen-activated protein kinase binding protein 1 | ORPHA:93592 |
| NEK8 | NIMA related kinase 8 | ORPHA:93591 |
| NPHP1 | nephrocystin 1 | ORPHA:93592 |
| NPHP3 | nephrocystin 3 | ORPHA:93591 |
| NPHP4 | nephrocystin 4 | ORPHA:93592 |
| TTC21B | tetratricopeptide repeat domain 21B | ORPHA:93591 |
| WDR19 | WD repeat domain 19 | ORPHA:93592 |
| XPNPEP3 | X-prolyl aminopeptidase 3 | ORPHA:93589 |
| ZNF423 | zinc finger protein 423 | ORPHA:93591 |
临床表型 3
常见 79–30%3
- 视网膜色素异常 HP:0007703
- 贫血 HP:0001903
- 肾功能不全 HP:0000083
外部标识与链接
OrphanetOMIM:256100OMIM:602088OMIM:604387MONDO:0019005GARD:206ICD-10 Q61.5ICD-11 GB83ClinicalTrials.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）