罕见病知识库 RareSeen

盐皮质激素受体功能性突变所致高血压

Hypertension due to gain-of-function mutations in the mineralocorticoid receptor

ORPHA:88660疾病

定义 英文原文(暂无中文)

A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.

别名

早发性高血压伴孕期恶化

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)