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Article

Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1.

PloS one - 1 Jan 2013

Wang Jian, Yu Tingting, Yin Lei, Li Jing, Yu Li, Shen Ye, Yu Yongguo, Shen Yongnian, Fu Qihua

Abstract excerpt

Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by resistance to the actions of aldosterone. Mutations in the subunit genes (SCNN1A, SCNN1B, SCNN1G) of the epithelial sodium channel (ENaC) and the NR3C2 gene encoding the mineralocorticoid receptor, result in systemic PHA1 and renal PHA1 respectively. Common clinical manifestations of PHA1 include salt wasting, hyperkalaemia,...

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PMID: 23762408
DOI: 10.1371/journal.pone.0065676
PMCID: PMC3675083

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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