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pseudohypoaldosteronism type 2A (PHA2A) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pseudohypoaldosteronism type 2A

MONDO:0007772

Also known as:PHA2AGordon hyperkalemia-hypertension syndromehyperpotassemia and hypertension, familial

Overview

GeneticsAutosomal dominant

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Hyperkalemia, Pseudohypoaldosteronism, Hypertension, and Hyperchloremic acidosis and 1 more.

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

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No formal diagnostic criteria for PHAII have been published.

Suggestive Findings

Pseudohypoaldosteronism type II (PHAII) should be suspected in individuals with the following clinical features, supportive laboratory findings, and family history. Clinical features. Hypertension (blood pressure 140/90 mm Hg) generally manifesting in adolescence or adulthood but also reported in children. Note: The absence of frank hypertension does not preclude the diagnosis.

Supportive laboratory findings

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for pseudohypoaldosteronism type 2A. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs of an individual diagnosed with pseudohypoaldosteronism type II (PHAII), the following evaluations (if not performed as part of the diagnostic evaluation) are recommended:

Serum electrolyte analysis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Appropriate surveillance includes routine electrolyte and blood pressure measurements, monitored in the same manner as for any person treated with a thiazide diuretic.

Source: GeneReviews — "Pseudohypoaldosteronism Type II"

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 pseudohypoaldosteronism type 2A.

69 publications have been identified in PubMed for pseudohypoaldosteronism type 2A. Research spans Case Report / Case Series (67%), Review / Meta-Analysis (16%), and Basic Science / Preclinical (7%).

Research Type	Count	% of Total
Patient case studies	46	67%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:145260

Orphanet

European rare disease database

Orphanet:88938

GARD

Genetic and Rare Diseases Info Center

GARD:16775

Questions for Your Care Team

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Kisho

pseudohypoaldosteronism type 2A

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Treatment of Manifestations

Prevention of Primary Manifestations

Prevention of Secondary Complications

Surveillance

Agents/Circumstances to Avoid

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

pseudohypoaldosteronism type 2A

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Treatment of Manifestations

Prevention of Primary Manifestations

Prevention of Secondary Complications

Surveillance

Agents/Circumstances to Avoid

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications