pseudohypoaldosteronism, type IB2, autosomal recessive
MONDO:0859317Mondo
Findings
No curated finding names pseudohypoaldosteronism, type IB2, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
7 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
- HyperkalemiaHPOHP:0002153
- HyponatremiaHPOHP:0002902
- HypotensionHPOHP:0002615
- Increased circulating aldosterone concentrationHPOHP:0000859
- Increased circulating renin concentrationHPOHP:0000848
- Metabolic acidosisHPOHP:0001942
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.
- SCNN1BHGNC:10600
- Definitive · Ambry Genetics · Autosomal recessive · 2024