pseudohypoaldosteronism type 2D
Findings
No curated finding names pseudohypoaldosteronism type 2D yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene.
Definition from the Mondo Disease Ontology (MONDO:0013781), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- HyperchloremiaHPOHP:0011423
- Hyperchloremic metabolic acidosisHPOHP:0004918
- HyperkalemiaHPOHP:0002153
- HypertensionHPOHP:0000822
- 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.
- KLHL3HGNC:6354
- Definitive · ClinGen · Semidominant · 2022
- Strong · Ambry Genetics · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: pseudohypoaldosteronism type 2D
- Also called
- KLHL3 pseudohypoaldosteronism type 2PHA2Dpseudohypoaldosteronism type 2 caused by mutation in KLHL3