autosomal dominant pseudohypoaldosteronism type 1
Findings
No curated finding names autosomal dominant pseudohypoaldosteronism type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.
Definition from the Mondo Disease Ontology (MONDO:0008329), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HyperkalemiaHPOHP:0002153
- 5 of 5 reported patients
- HyponatremiaHPOHP:0002902
- 3 of 5 reported patients
- Increased circulating aldosterone concentrationHPOHP:0000859
- PseudohypoaldosteronismHPOHP:0008242
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NR3C2HGNC:7979
- Definitive · Ambry Genetics · Autosomal dominant · 2016
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: autosomal dominant pseudohypoaldosteronism type 1
- Also called
- PHA1Apseudohypoaldosteronism type i, autosomal dominant