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pseudohyperaldosteronism type 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pseudohyperaldosteronism type 2

MONDO:0011517

Also known as: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

Overview

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.

GeneticsAutosomal dominant · NR3C2 (chr 4)

Clinical Presentation

Features include: Decreased circulating renin concentration, Hypertension, and Decreased circulating aldosterone concentration.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	1	Hypertension

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NR3C2 encodes nuclear receptor subfamily 3 group C member 2 (984 aa). Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Highest expression in Thyroid (19.3 TPM) and Ovary (13.1 TPM).

Pseudohyperaldosteronism type 2 has limited evidence linking it to mutations in the NR3C2 gene on chromosome 4.

The NR3C2 protein participates in PIAS1 SUMOylates NR3C2 (Mineralcorticoid Receptor) with SUMO1 and NR3C2:NR3C2 ligands pathways.

NR3C2 is classified as a druggable target (Druggable Genome, Nuclear Hormone Receptor, and Transcription Factor categories) with score 4.1.

Diagnosis

Genetic testing for NR3C2 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for pseudohyperaldosteronism type 2 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for pseudohyperaldosteronism type 2.

20 publications have been identified in PubMed for pseudohyperaldosteronism type 2. Research spans Case Report / Case Series (42%), Review / Meta-Analysis (32%), and Basic Science / Preclinical (11%).

Research Type	Count	% of Total
Patient case studies	8	42%

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 2:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605115

Orphanet

European rare disease database

Orphanet:88660

GARD

Genetic and Rare Diseases Info Center

GARD:19093

Questions for Your Care Team

→Should I pursue genetic testing for NR3C2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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pseudohyperaldosteronism type 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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