pseudohyperaldosteronism type 2
Findings
No curated finding names pseudohyperaldosteronism type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.
Definition from the Mondo Disease Ontology (MONDO:0011517), read 2026-09-29. CC BY 4.0.
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
- Limited · ClinGen · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
- A kind of
Other names
3 names
Resolves to: pseudohyperaldosteronism type 2
- Also called
- early-onset hypertension with exacerbation in pregnancyhypertension due to gain-of-function mutations in the mineralocorticoid receptorhypertension, early-onset, autosomal dominant, with exacerbation in pregnancy