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Article

Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.

European journal of endocrinology - 1 May 2013

Welzel Maik, Akin Leyla, Büscher Anja, Güran Tülay, Hauffa Berthold P, Högler Wolfgang, Leonards Julia, Karges Beate, Kentrup Heiner, Kirel Birgul, Senses Emine Esin Yalinbas, Tekin Neslihan, Holterhus Paul-Martin, Riepe Felix G

Abstract excerpt

BACKGROUND: Pseudohypoaldosteronism type 1 (PHA1) is a monogenic disease caused by mutations in the genes encoding the human mineralocorticoid receptor (MR) or the α (SCNN1A), β (SCNN1B) or γ (SCNN1G) subunit of the epithelial Na(+) channel (ENaC). While autosomal dominant mutation of the MR cause renal PHA1, autosomal recessive mutations of the ENaC lead to systemic PHA1. In the latter, affected children suffer...

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PMID: 23416952
DOI: 10.1530/EJE-12-1000

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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