C3肾小球肾炎
C3 glomerulonephritis
ORPHA:329931疾病亚型
定义 英文原文(暂无中文)
A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and the electron microscopic findings of predominant subendothelial, occasionally subepithelial (so-called ''humps''), and intramembranous deposits, but without the typical electron-dense deposits of dense deposit disease.
基本事实
- 遗传方式
- 常染色体显性
相关基因 5
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CFH | complement factor H | Disease-causing germline mutation(s) in |
| CFHR1 | complement factor H related 1 | Disease-causing germline mutation(s) in |
| CFHR3 | complement factor H related 3 | Part of a fusion gene in |
| CFHR5 | complement factor H related 5 | Disease-causing germline mutation(s) in |
| CFHR2 | complement factor H related 2 | Part of a fusion gene in |
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)