pseudohypoaldosteronism type 2E
Findings
No curated finding names pseudohypoaldosteronism type 2E 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 CUL3 gene.
Definition from the Mondo Disease Ontology (MONDO:0013782), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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.
- HypertensionHPOHP:0000822
- Metabolic acidosisHPOHP:0001942
- 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.
- CUL3HGNC:2553
- Definitive · ClinGen · Autosomal dominant · 2021
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: pseudohypoaldosteronism type 2E
- Also called
- CUL3 pseudohypoaldosteronism type 2PHA2Epseudohypoaldosteronism type 2 caused by mutation in CUL3