Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and molecular features of type 1 pseudohypoaldosteronism.

Hormone research - 1 Jan 2009

Riepe Felix G

Abstract excerpt

Pseudohypoaldosteronism (PHA) is a rare heterogeneous syndrome of mineralocorticoid resistance causing insufficient potassium and hydrogen secretion. PHA type 1 (PHA1) causes neonatal salt loss, failure to thrive, dehydration and circulatory shock. Two different forms of PHA1 can be distinguished on the clinical and genetic level, showing either a systemic or a renal form of mineralocorticoid resistance. This...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aldosterone
Share to Epithelial Cells
Share to Epithelial Sodium Channels

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genotype

Share to Infant

Share to Models, Molecular

Share to Pseudohypoaldosteronism

Share to Receptors, Mineralocorticoid

Source

Identifiers

PMID: 19571553
DOI: 10.1159/000224334

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and molecular features of type 1 pseudohypoaldosteronism.PMID 19571553Read ↗

Clinical and Biochemical Characteristics of Pseudohypoaldosteronism Type 1 with and Without Genetic Mutations: A Literature ReviewSemantic proximity Read ↗

Aldosterone resistance: structural and functional considerations and new perspectives.Semantic proximity Read ↗

[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].Semantic proximity Read ↗

Clinical Manifestation and Molecular Analysis of Three Korean Patients with the Renal Form of Pseudohypoaldosteronism Type 1.Semantic proximity Read ↗

A novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC) in one Turkish patient with a systemic form of pseudohypoaldosteronism Type 1.Semantic proximity Read ↗

Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.Semantic proximity Read ↗

Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1Semantic proximity Read ↗

Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1.Semantic proximity Read ↗

A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1Semantic proximity Read ↗

Renal pseudohypoaldosteronism type 1 – an adult case series including a novel gene variantSemantic proximity Read ↗

Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1.Semantic proximity Read ↗

A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.