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familial hyperaldosteronism type III - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial hyperaldosteronism type III

MONDO:0013359

Also known as:FH-IIIFH3familial hyperaldosteronism type 3

Overview

Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.

GeneticsAutosomal dominant · KCNJ5 (chr 11)

ResearchLimited published research (7 articles)

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 always present findings: Increased circulating aldosterone concentration, Decreased circulating renin concentration, and Hypertension; and sometimes findings: Polydipsia, Hypercalciuria, Polyuria, and Metabolic acidosis. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	1	Increased circulating aldosterone concentration

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.

KCNJ5 encodes potassium inwardly rectifying channel subfamily J member 5 (419 aa). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Highest expression in Adrenal Gland (62.9 TPM) and Pituitary (25.4 TPM).

Familial hyperaldosteronism type III is caused by mutations in the KCNJ5 gene on chromosome 11.

KCNJ5 is classified as a druggable target (Clinically Actionable, Druggable Genome, Ion Channel, and Transporter categories) with score 5.8.

Diagnosis

Genetic testing for KCNJ5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 familial hyperaldosteronism type III.

7 publications have been identified in PubMed for familial hyperaldosteronism type III. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (29%), and Basic Science / Preclinical (14%).

Recent Publications

AbuMaziad AS (2026). [PMID: 42280146](https://pubmed.ncbi.nlm.nih.gov/42280146/). *Molecules*. [Basic Science / Preclinical]
Pellegrini B (2025). [PMID: 40540150](https://pubmed.ncbi.nlm.nih.gov/40540150/). *Journal of endocrinological investigation*. [Review / Meta-Analysis]
Araujo-Castro M (2025). [PMID: 39058909](https://pubmed.ncbi.nlm.nih.gov/39058909/). *The Journal of clinical endocrinology and metabolism*. [Review / Meta-Analysis]
Zeman J (2025). [PMID: 40966436](https://pubmed.ncbi.nlm.nih.gov/40966436/). *Prague medical report*. [Case Report / Case Series]
Zhu ZF (2025). [PMID: 40953980](https://pubmed.ncbi.nlm.nih.gov/40953980/). *Zhonghua yi xue za zhi*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 7:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613677

Orphanet

European rare disease database

Orphanet:251274

GARD

Genetic and Rare Diseases Info Center

GARD:12362

Questions for Your Care Team

→Should I pursue genetic testing for KCNJ5, 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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familial hyperaldosteronism type III

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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