pseudohypoaldosteronism, type IB1, autosomal recessive
Findings
No curated finding names pseudohypoaldosteronism, type IB1, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.
Definition from the Mondo Disease Ontology (MONDO:0009917), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
25 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.
- DehydrationHPOHP:0001944
- 10 of 10 reported patients
- Frequent (30% to 79% of cases)
- HyperkalemiaHPOHP:0002153
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- HyponatremiaHPOHP:0002902
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- HypotensionHPOHP:0002615
- 10 of 10 reported patients
- Increased circulating aldosterone concentrationHPOHP:0000859
- 10 of 10 reported patients
- Metabolic acidosisHPOHP:0001942
- 10 of 10 reported patients
Show the remaining 13
- VomitingHPOHP:0002013
- Frequent (30% to 79% of cases)
- ArrhythmiaHPOHP:0011675
- Occasional (5% to 29% of cases)
- Atopic dermatitisHPOHP:0001047
- Occasional (5% to 29% of cases)
- CholelithiasisHPOHP:0001081
- Occasional (5% to 29% of cases)
- CoughHPOHP:0012735
- Occasional (5% to 29% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Occasional (5% to 29% of cases)
Genes
3 genes
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.
- SCNN1AHGNC:10599
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Strong · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- SCNN1BHGNC:10600
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- SCNN1GHGNC:10602
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
Where it sits
- A kind of
Other names
7 names
Resolves to: pseudohypoaldosteronism, type IB1, autosomal recessive
- Also called
- autosomal recessive PHA 1autosomal recessive pseudohypoaldosteronism type 1generalised PHA1generalised pseudohypoaldosteronism type 1generalized PHA1generalized pseudohypoaldosteronism type 1PHA1B