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pseudohypoaldosteronism type 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pseudohypoaldosteronism type 1

MONDO:0019161

Also known as:PHA type 1pseudohypoaldosteronism, type IPHA1B

Find Clinical TrialsTrials

Overview

A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration.

Clinical Trials2 registered · 1 recruiting

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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.

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

27 publications have been identified in PubMed for pseudohypoaldosteronism type 1. Research spans Case Report / Case Series (74%), Review / Meta-Analysis (19%), and Basic Science / Preclinical (4%).

Research Type	Count	% of Total
Patient case studies	20	74%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:756

GARD

Genetic and Rare Diseases Info Center

GARD:16545

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→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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pseudohypoaldosteronism type 1

Overview

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

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Questions for Your Care Team

Questions for Your Care Team

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