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hyperaldosteronism, familial, type IV (HALD4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperaldosteronism, familial, type IV

MONDO:0014875

Also known as:HALD4familial hyperaldosteronism type IVhyperaldosteronism, familial, type IV; HALD4

Overview

GeneticsAutosomal dominant · CACNA1H (chr 16)

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, Hypertension, and Elevated aldosterone:renin ratio.

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.

CACNA1H encodes calcium voltage-gated channel subunit alpha1 H (2,353 aa). Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. Highest expression in Colon Sigmoid (212.7 TPM) and Esophagus Muscularis (190.8 TPM).

Hyperaldosteronism, familial, type IV is associated with mutations in the CACNA1H gene on chromosome 16.

The CACNA1H protein participates in CaV3.2 (CACNA1H:CACNA2D1:CACNB1,2,3:CACNG7) transports calcium from the extracellular region to the cytosol pathway.

CACNA1H is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 2.4.

Diagnosis

Genetic testing for CACNA1H is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hyperaldosteronism, familial, type IV has been reported in the published literature.

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 hyperaldosteronism, familial, type IV.

155 publications have been identified in PubMed for hyperaldosteronism, familial, type IV. Research spans Review / Meta-Analysis (42%), Epidemiology / Natural History (17%), and Diagnostic / Biomarker (15%).

Research Type	Count	% of Total
Research summaries	65	42%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617027

Orphanet

European rare disease database

Orphanet:642671

Questions for Your Care Team

→Should I pursue genetic testing for CACNA1H, 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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Kisho

hyperaldosteronism, familial, type IV

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Resistant hypertension, hyperaldosteronism, and the emerging understanding of hypercortisolism.

hyperaldosteronism, familial, type IV

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Resistant hypertension, hyperaldosteronism, and the emerging understanding of hypercortisolism.