Familial Hyperaldosteronism (FH): Comprehensive Disease Characteristics Report

1. Disease information

Overview / definition

Familial hyperaldosteronism (FH) is a group of inherited (typically autosomal-dominant) forms of primary aldosteronism (PA) characterized by inappropriate aldosterone production, suppressed renin, and hypertension; hypokalemia may be present depending on subtype and severity. (okorafor2024lowreninforms pages 2-3, araujocastro2024differencesinthe pages 3-5)

A practical clinical definition used in recent endocrine genetics reviews is that FH is suspected/identified when a person has PA and ≥1 first-degree relative is also affected. (kim2024molecularandgenetics pages 11-12)

Key identifiers

• MONDO (Mondo Disease Ontology)
• Familial hyperaldosteronism: MONDO:0016525 (OpenTargets Search: familial hyperaldosteronism)
• Familial hyperaldosteronism type II: MONDO:0011576 (OpenTargets Search: familial hyperaldosteronism)
• Familial hyperaldosteronism type III: MONDO:0013359 (OpenTargets Search: familial hyperaldosteronism)
• Hyperaldosteronism, familial, type IV: MONDO:0014875 (OpenTargets Search: familial hyperaldosteronism)
• Glucocorticoid-remediable aldosteronism (GRA; FH-I): MONDO:0007080 (OpenTargets Search: familial hyperaldosteronism)
• OMIM (disease identifiers)
• FH-I / GRA: OMIM #103900 (carvajal2012anewpresentation pages 1-3, monticone2018geneticsinendocrinology pages 1-5)
• FH-II: OMIM #605635 (santana2022pathogenesisofprimary pages 2-4, khandelwal2022monogenicformsof pages 6-7)
• FH-III and FH-IV OMIM numbers are listed as part of the “type II–IV” group in one review (#613677, #617027), but the subtype-to-OMIM mapping is not explicitly resolved in the provided excerpt; use OMIM primary records to confirm exact subtype mapping. (khandelwal2022monogenicformsof pages 6-7)

ICD-10/ICD-11 and MeSH identifiers were not retrievable from the current tool-accessible corpus and should be added from OMIM/Orphanet/MeSH lookups in a follow-on curation step.

Synonyms / alternative names

• FH-I: glucocorticoid-remediable aldosteronism (GRA); glucocorticoid-suppressible hyperaldosteronism. (kim2024molecularandgenetics pages 11-12, ekman2024whatweknow pages 2-4)
• FH is often described under the umbrella of “familial primary aldosteronism” in clinical literature. (araujocastro2024differencesinthe pages 2-3)

Evidence provenance

The information summarized here is derived from aggregated disease-level resources (guidelines, cohort studies, systematic reviews) and primary research studies (genetic discovery, registry cohorts, and a complication study in FH-I). (adler2025primaryaldosteronisman pages 5-6, araujocastro2024differencesinthe pages 3-5, mulatero2011prevalenceandcharacteristics pages 1-2, aldosteronism1998intracranialaneurysmand pages 1-2)

2. Etiology

Disease causal factors (genetic)

FH comprises multiple genetic subtypes defined by germline alterations that increase aldosterone biosynthesis: - FH-I (GRA): CYP11B1/CYP11B2 chimeric fusion gene created by unequal/asymmetric crossover. (kim2024molecularandgenetics pages 11-12, ekman2024whatweknow pages 2-4) - FH-II: germline CLCN2 gain-of-function variants (chloride channel). (kim2024molecularandgenetics pages 11-12, okorafor2024lowreninforms pages 2-3) - FH-III: germline KCNJ5 variants affecting a potassium channel (Kir3.4/GIRK4). Primary evidence shows distinct phenotypes for different variants at the same residue (G151R vs G151E). (scholl2012hypertensionwithor pages 1-2) - FH-IV: germline CACNA1H variants (T-type Ca2+ channel, CaV3.2); the original report identified heterozygous variants in familial and early-onset PA and demonstrated functional effects. (daniil2016cacna1hmutationsare pages 1-2)

OpenTargets disease–gene association evidence (supporting MONDO mapping) lists strong associations for KCNJ5, CLCN2, CACNA1H, CYP11B2/CYP11B1 (via GRA), and other linked entities. (OpenTargets Search: familial hyperaldosteronism)

Risk factors

Primary risk is family history of PA/FH and young onset hypertension/PA. A 2025 Endocrine Society guideline emphasizes genetic screening for familial forms and young-onset PA (see Diagnostics). (adler2025primaryaldosteronisman pages 5-6)

Protective factors / gene–environment interactions

Specific protective variants or gene–environment interactions were not identified in the retrieved corpus.

3. Phenotypes

Core clinical phenotype

• Hypertension (often early onset in FH)
• Low renin phenotype (suppressed PRA/DRC)
• Elevated aldosterone (plasma aldosterone concentration; PAC)
• Hypokalemia (variable by subtype; not required for diagnosis) (okorafor2024lowreninforms pages 2-3, araujocastro2024differencesinthe pages 3-5)

Subtype-specific phenotypic patterns and frequencies (quantitative)

A large 2024 comparative analysis compiled 360 FH cases (systematic review) vs 830 sporadic PA patients (SPAIN-ALDO registry). (araujocastro2024differencesinthe pages 3-5)

FH-I (GRA) - Younger age at diagnosis: 33.6 ± 18.07 vs 56.5 ± 4.76 years (FH-I vs sporadic). (araujocastro2024differencesinthe pages 3-5) - Hypokalemia prevalence: 11.6% vs 59.6% (FH-I vs sporadic). (araujocastro2024differencesinthe pages 3-5) - PAC: 29.5 ± 15.03 vs 44.4 ± 78.85 ng/dL (FH-I vs sporadic). (araujocastro2024differencesinthe pages 3-5) - PRA: 1.3 ± 6.81 vs 0.4 ± 0.86 ng/mL/h (FH-I vs sporadic). (araujocastro2024differencesinthe pages 3-5) - A synthesis within the same paper notes many FH-I patients may be normotensive (reported ~40%) and hypokalemia can be <12%. (araujocastro2024differencesinthe pages 5-6)

FH-II (CLCN2-related) - Phenotype often resembles sporadic PA except younger age and higher diastolic BP; in the same cohort, mean age is markedly younger than sporadic (example values reported for FH-II: 33.6 ± 19.7 vs 56.5 ± 4.8 years). (araujocastro2024differencesinthe pages 5-6)

FH-III (KCNJ5-related) - Severe early-onset phenotype with hypokalemia ~89.3% and mean serum potassium ~2.6 mEq/L in the cohort. (araujocastro2024differencesinthe pages 3-5) - High need for bilateral adrenalectomy in severe cases: 17/29 underwent bilateral adrenalectomy for BP control in the 2024 synthesis. (araujocastro2024differencesinthe pages 3-5)

FH-IV (CACNA1H-related) - In the 2024 synthesis, phenotype was largely similar to sporadic PA, but with younger age, lower serum potassium and higher PRA. (araujocastro2024differencesinthe pages 5-6, araujocastro2024differencesinthe pages 3-5)

Major complication phenotype (FH-I/GRA)

A landmark 1998 study of 27 GRA pedigrees reported major cerebrovascular morbidity: - In genetically proven GRA subjects (n=167), 18 cerebrovascular events occurred in 15 patients vs 0 events in GRA-negative relatives (P<0.001). (aldosteronism1998intracranialaneurysmand pages 1-2) - 70% of events were hemorrhagic; overall case fatality 61%. (aldosteronism1998intracranialaneurysmand pages 1-2) - The authors conclude GRA “is associated with high morbidity and mortality from early onset of hemorrhage stroke and ruptured intracranial aneurysms” and recommend aneurysm screening by MRA in genetically proven GRA. (aldosteronism1998intracranialaneurysmand pages 1-2) - Hemorrhagic stroke incidence rates in proven GRA were markedly higher than Framingham (Framingham 0.020% vs proven GRA 0.28% in patient-years comparisons). (aldosteronism1998intracranialaneurysmand pages 4-5)

Suggested HPO terms (examples)

The retrieved sources did not supply explicit HPO mappings; suggested terms for knowledge-base curation: - Hypertension: HP:0000822 - Hyperaldosteronism: HP:0000859 - Hypokalemia: HP:0002900 - Low renin (as a lab phenotype; may map to “decreased renin”): HP:0020031 (check exact HPO label in current HPO) - Metabolic alkalosis: HP:0001948 (not universal; more typical in mineralocorticoid excess syndromes) (okorafor2024lowreninforms pages 2-3) - Intracranial aneurysm: HP:0004944; Hemorrhagic stroke: HP:0001342 (FH-I/GRA complication) (aldosteronism1998intracranialaneurysmand pages 1-2)

Quality-of-life impact

No FH-specific validated QoL instruments or quantified QoL outcomes were identified in the retrieved corpus.

4. Genetic / molecular information

Causal genes by subtype

See subtype summary table below and genetic discovery evidence: - FH-I: CYP11B1/CYP11B2 chimeric fusion (OMIM #103900). (carvajal2012anewpresentation pages 1-3) - FH-II: CLCN2. (kim2024molecularandgenetics pages 11-12, okorafor2024lowreninforms pages 2-3) - FH-III: KCNJ5. (scholl2012hypertensionwithor pages 1-2) - FH-IV: CACNA1H. (daniil2016cacna1hmutationsare pages 1-2)

Pathogenic variant examples (from tool-accessible sources)

• FH-II / CLCN2 examples listed in 2024 review: p.Arg172Gln, p.Met22Lys, p.Tyr26Asn, p.Lys362del, p.Ser865Arg. (kim2024molecularandgenetics pages 11-12)
• FH-III / KCNJ5: primary evidence identifies inherited G151R (severe phenotype) and G151E (milder) segregating with disease. (scholl2012hypertensionwithor pages 1-2)
• FH-IV / CACNA1H: heterozygous germline variants reported, including p.Met1549Ile (de novo in early-onset PA) and other variants in familial cases; functional studies demonstrate altered Ca2+ currents and increased aldosterone output in cell models. (daniil2016cacna1hmutationsare pages 1-2)

Somatic vs germline

FH is defined by germline changes, but there is mechanistic overlap with somatic driver mutations in sporadic aldosterone-producing adenomas (APAs) (e.g., KCNJ5, CACNA1D), which converge on Ca2+ signaling and CYP11B2 upregulation. (ekman2024whatweknow pages 2-4, kim2024molecularandgenetics pages 11-12)

Modifier genes / epigenetics / chromosomal abnormalities

No FH-specific modifier genes, epigenetic signatures, or chromosomal abnormalities were identified in the retrieved corpus.

5. Environmental information

No specific non-genetic environmental triggers for FH onset were identified; however, aldosterone excess phenotypes interact with salt intake and antihypertensive medications via ARR interpretation and downstream cardiovascular risk (primarily addressed in PA guidelines rather than FH-specific evidence). (adler2025primaryaldosteronisman pages 5-6, ylanenUnknownyeardiagnosticsofprimary pages 49-52)

6. Mechanism / pathophysiology

Common mechanistic theme

Across most FH subtypes, causal variants affect ion channels or transport in adrenal zona glomerulosa (ZG) cells, leading to membrane depolarization, increased intracellular Ca2+ signaling, increased CYP11B2 (aldosterone synthase) expression, and aldosterone overproduction. (ekman2024whatweknow pages 2-4, kim2024molecularandgenetics pages 11-12)

FH-I (GRA): ACTH-dependent aldosterone synthase misexpression

A CYP11B1/CYP11B2 chimeric gene results in aldosterone synthase activity being controlled by ACTH rather than angiotensin II/potassium, explaining dexamethasone suppressibility. (ekman2024whatweknow pages 2-4, kim2024molecularandgenetics pages 11-12)

FH-II (CLCN2): chloride conductance → depolarization → Ca2+ influx

A 2024 review summarizes FH-II mechanism as a mutant chloride channel with increased permeability that causes depolarization and “influx of calcium intracellularly, resulting in the activation of aldosterone synthesis.” (okorafor2024lowreninforms pages 2-3)

FH-III (KCNJ5): loss of K+ selectivity → Na+ influx → depolarization

Primary evidence shows KCNJ5 mutations disrupt the selectivity filter so channels conduct Na+, leading to depolarization and Ca2+ channel activation, which increases aldosterone production and can drive hyperplasia; phenotype differs by allele (G151R severe vs G151E mild). (scholl2012hypertensionwithor pages 1-2)

FH-IV (CACNA1H): CaV3.2 gain-of-function → altered Ca2+ currents

CACNA1H variants alter Ca2+ current properties in electrophysiology studies and increase aldosterone production and steroidogenic enzyme expression in cell models, supporting a calcium-driven aldosteronism mechanism. (daniil2016cacna1hmutationsare pages 1-2)

Proposed mechanisms for cerebrovascular aneurysm risk in GRA

The 1998 GRA complication study proposes multiple plausible contributors, including longstanding congenital hypertension, aldosterone-related vascular remodeling/fibrosis, or developmental effects of mineralocorticoid excess on cerebrovascular development; it draws a parallel to intracranial aneurysm risk in autosomal dominant polycystic kidney disease. (aldosteronism1998intracranialaneurysmand pages 4-5)

Suggested ontology mappings (examples)

• GO Biological Process: aldosterone biosynthetic process (GO:0006694); regulation of membrane depolarization (various); cellular calcium ion homeostasis (GO:0006874); response to ACTH (mapped via melanocortin signaling; not explicitly in excerpts). (ekman2024whatweknow pages 2-4, scholl2012hypertensionwithor pages 1-2)
• Cell type (CL): adrenal gland zona glomerulosa cell (CL term; exact CL ID to be verified during ontology curation). (ekman2024whatweknow pages 2-4, okorafor2024lowreninforms pages 2-3)

7. Anatomical structures affected

Primary organs

• Adrenal cortex, especially zona glomerulosa (aldosterone production) and, in FH-I/GRA, aberrant aldosterone synthase expression in zona fasciculata is a key concept. (okorafor2024lowreninforms pages 2-3, monticone2018geneticsinendocrinology pages 1-5)

Secondary organ involvement / complications

• Cardiovascular system and cerebrovasculature via sustained aldosterone excess and hypertension; notably intracranial aneurysm and hemorrhagic stroke in FH-I/GRA. (aldosteronism1998intracranialaneurysmand pages 1-2)

Suggested UBERON terms (examples)

• Adrenal gland: UBERON:0002369
• Adrenal cortex: UBERON:0001234
• Zona glomerulosa: UBERON term to be verified in ontology curation

8. Temporal development

• FH often presents as young-onset hypertension/PA, especially FH-I and FH-III; FH-III can present in infancy/early childhood in some summaries. (okorafor2024lowreninforms pages 2-3, araujocastro2024differencesinthe pages 3-5)
• FH-I/GRA cerebrovascular events occur early (mean age at first event ~31.7 years in the 1998 study). (aldosteronism1998intracranialaneurysmand pages 1-2)

9. Inheritance and population

Inheritance

FH subtypes are generally described as autosomal dominant with variable expressivity; FH-II and FH-IV are often noted to have incomplete penetrance in reviews. (okorafor2024lowreninforms pages 2-3, santana2022pathogenesisofprimary pages 4-5)

Epidemiology

• PA prevalence varies by setting and phenotype; 2025 Endocrine Society guideline estimates include:
• Primary care hypertensives: ~5.9% (range 3.2–14.0%)
• Referral-center hypertensives: 7.2% (0.7–21.9%)
• Young-onset hypertension (18–40): 16.2%
• Resistant hypertension: 11.3–29.1%
• Hypertension + hypokalemia: 28.1% (adler2025primaryaldosteronisman pages 10-10)
• PATOGEN (300 consecutive PA patients) found:
• FH-I/GRA prevalence 0.66% among PA (2 index cases) plus 21 affected relatives found by cascade screening.
• FH-II in 12 of 199 informative families (6%) plus 15 additional relatives with confirmed PA. (mulatero2011prevalenceandcharacteristics pages 1-2)

Demographics / geography / founder effects

Founder mutations, geographic clustering, and carrier frequencies were not extractable from the current corpus.

10. Diagnostics

Biochemical screening for PA (relevant for FH case finding)

The 2025 Endocrine Society guideline emphasizes screening using aldosterone, renin (PRA or DRC), and potassium, with ARR interpretation in the context of pretest probability and medication effects; it provides guidance on repeating testing and medication washout where feasible. (adler2025primaryaldosteronisman pages 5-6)

Confirmatory testing and subtyping

The 2025 guideline describes an individualized algorithm: patients likely to have PA who do not desire surgery can be treated with MRA without extensive confirmatory/subtyping; those pursuing surgery may proceed via probabilistic shared decision-making and consider aldosterone suppression testing, CT imaging, and AVS depending on likelihood of lateralizing disease. (adler2025primaryaldosteronisman pages 6-7)

Figure: Endocrine Society 2025 algorithm for likely PA management (includes pathways to MRA therapy vs CT/AVS workup). (adler2025primaryaldosteronisman media 47196b32)

FH-specific genetic testing (guideline-based)

The 2025 Endocrine Society guideline states: - “Aldosterone suppression testing is unnecessary in individuals from families with germline mutations associated with familial hyperaldosteronism.” (adler2025primaryaldosteronisman pages 5-6) - “Genetic screening is recommended for all first-degree relatives of individuals with familial hyperaldosteronism and for individuals with young-onset PA (<20 years) to enable early diagnosis and treatment.” (adler2025primaryaldosteronisman pages 5-6)

Real-world implementation considerations: In Aotearoa/New Zealand, FH-I testing cost (NZD$127.91) was far lower than AVS (NZD$6663), supporting cost-effectiveness of early FH-I testing in young-onset PA without adrenal adenoma on imaging. (elston2024genetictestingfor pages 5-6)

Differential diagnosis

The corpus included broader reviews of monogenic low-renin hypertension syndromes, emphasizing that multiple Mendelian disorders can present with low renin and hypertension (e.g., Liddle, apparent mineralocorticoid excess). FH is differentiated by aldosterone excess and genetic subtype testing. (okorafor2024lowreninforms pages 2-3)

11. Outcome / prognosis

FH-I/GRA cerebrovascular prognosis

The 1998 pedigree study reported high morbidity and mortality: - 18% of genetically proven GRA patients had cerebrovascular complications. - 61% case fatality across events. - Strong enrichment for hemorrhagic stroke and intracranial aneurysm. (aldosteronism1998intracranialaneurysmand pages 1-2)

FH-II outcomes (PATOGEN)

FH-II families had clinically relevant complications: the cohort reported stroke (3 patients) and severe kidney damage in one patient among FH-II affected individuals (descriptive). (mulatero2011prevalenceandcharacteristics pages 3-4)

12. Treatment

Pharmacotherapy

• FH-I/GRA: low-dose glucocorticoids (e.g., dexamethasone/prednisolone) to suppress ACTH-driven aldosterone; adjunct mineralocorticoid receptor antagonists (MRAs) such as spironolactone/eplerenone and ENaC blockers may be used for BP control. (okorafor2024lowreninforms pages 2-3)
• FH (general) / PA targeted therapy: Endocrine Society guideline emphasizes that PA-specific therapies are MRAs and (when appropriate) unilateral adrenalectomy for lateralizing disease. (adler2025primaryaldosteronisman pages 15-16)

Surgical

• Severe FH-III frequently requires bilateral adrenalectomy for control (e.g., 17/29 in one synthesis). (araujocastro2024differencesinthe pages 3-5)

Treatment outcomes

PATOGEN reports that very low-dose dexamethasone and/or MRAs controlled BP satisfactorily in FH-I families; FH-II cases more often had hypertension and higher complication burden. (mulatero2011prevalenceandcharacteristics pages 3-4)

Suggested MAXO terms (examples)

• Mineralocorticoid receptor antagonist therapy (MAXO term to be verified)
• Glucocorticoid therapy (MAXO term to be verified)
• Adrenalectomy (MAXO term to be verified)

13. Prevention

Primary prevention is not applicable (genetic). Secondary/tertiary prevention focuses on: - Cascade genetic screening of relatives per 2025 Endocrine Society guideline to enable early diagnosis and treatment. (adler2025primaryaldosteronisman pages 5-6) - In FH-I/GRA, intracranial aneurysm screening by MRA in genetically proven cases is recommended in the 1998 study (beginning at puberty and repeated approximately every five years per the paper’s recommendations). (aldosteronism1998intracranialaneurysmand pages 4-5, aldosteronism1998intracranialaneurysmand pages 1-2)

14. Other species / natural disease

No naturally occurring FH analogs in non-human species were identified in the retrieved corpus.

15. Model organisms

FH subtype-relevant models were not systematically retrieved, but mechanistic animal/cellular models exist for channelopathies and are referenced in broader PA genetics literature; specific model details require additional targeted retrieval beyond the present corpus.

Summary table of FH subtypes

Table: This table summarizes the currently recognized Familial Hyperaldosteronism subtypes FH-I through FH-IV, including synonyms, causal genes and mechanisms, inheritance patterns, and distinguishing clinical features. It is useful for quickly comparing subtype-specific genetics and phenotype patterns using only the cited context sources.

Recent developments (prioritizing 2023–2025)

1. 2025 Endocrine Society PA guideline: moves toward broader screening and explicitly recommends genetic screening of all first-degree relatives of FH cases and those with young-onset PA (<20 years); also supports streamlined pathways where empirical MRA therapy can be initiated without extensive confirmatory testing in appropriate contexts. Publication date: July 2025. URL: https://doi.org/10.1210/clinem/dgaf284 (adler2025primaryaldosteronisman pages 5-6, adler2025primaryaldosteronisman pages 6-7)

2. 2024 phenotype synthesis (familial vs sporadic PA): largest compiled comparison in the retrieved corpus (360 FH cases) quantifies subtype-specific differences (e.g., very low hypokalemia in FH-I vs extreme hypokalemia and early onset in FH-III). Publication date: March 2024. URL: https://doi.org/10.3389/fendo.2024.1336306 (araujocastro2024differencesinthe pages 3-5)

3. 2024 real-world implementation work (New Zealand): highlights practical cost advantages of FH-I genetic testing compared with AVS and ethical/insurance considerations for testing. Publication date: Aug 2024. URL: https://doi.org/10.1111/imj.16511 (elston2024genetictestingfor pages 5-6)

4. Large-scale implementation gap quantified (Taiwan, 7.8 million hypertensives): only 4.4% ever screened for PA, despite high-risk features; annual screening only 0.75% by 2022. Preprint date: Nov 2025. URL: https://doi.org/10.1101/2025.11.13.25340212 (tsai2025screeninganddiagnosis pages 1-6)

Limitations / gaps relative to template

• ICD-10/ICD-11 and MeSH identifiers, Orphanet codes, population carrier frequencies, founder effects, and FH-specific QoL metrics were not present in the retrieved corpus and should be added via dedicated OMIM/Orphanet/MeSH lookups and/or additional targeted literature retrieval.
• Some 2023–2024 FH-specific systematic reviews were listed as unobtainable by the tool (e.g., 2024 EJE FH guideline; 2023 therapeutic systematic review), so their details could not be incorporated here.

References

1. (okorafor2024lowreninforms pages 2-3): Ugochi Chinenye Okorafor and Uchechi Chioma Okorafor. Low renin forms of monogenic hypertension: review of the evidence. Journal of Clinical Medicine of Kazakhstan, 21:14-20, Feb 2024. URL: https://doi.org/10.23950/jcmk/14269, doi:10.23950/jcmk/14269. This article has 0 citations.

2. (araujocastro2024differencesinthe pages 3-5): Marta Araujo-Castro, Paola Parra, Patricia Martín Rojas-Marcos, Miguel Paja Fano, Marga González Boillos, Eider Pascual-Corrales, Ana María García Cano, Jorge Gabriel Ruiz-Sanchez, Almudena Vicente Delgado, Emilia Gómez Hoyos, Rui Ferreira, Iñigo García Sanz, Mònica Recasens Sala, Rebeca Barahona San Millan, María José Picón César, Patricia Díaz Guardiola, Carolina M. Perdomo, Laura Manjón-Miguélez, Rogelio García Centeno, Ángel Rebollo Román, Paola Gracia Gimeno, Cristina Robles Lázaro, Manuel Morales-Ruiz, María Calatayud, Simone Andree Furio Collao, Diego Meneses, Miguel Sampedro Nuñez, Verónica Escudero Quesada, Elena Mena Ribas, Alicia Sanmartín Sánchez, Cesar Gonzalvo Diaz, Cristina Lamas, María del Castillo Tous, Joaquín Serrano Gotarredona, Theodora Michalopoulou Alevras, Eva María Moya Mateo, and Felicia A. Hanzu. Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism. Frontiers in Endocrinology, Mar 2024. URL: https://doi.org/10.3389/fendo.2024.1336306, doi:10.3389/fendo.2024.1336306. This article has 6 citations.

3. (kim2024molecularandgenetics pages 11-12): Sanggu Kim, Preeti Kumari Chaudhary, and Soochong Kim. Molecular and genetics perspectives on primary adrenocortical hyperfunction disorders. International Journal of Molecular Sciences, 25:11341, Oct 2024. URL: https://doi.org/10.3390/ijms252111341, doi:10.3390/ijms252111341. This article has 6 citations.

4. (OpenTargets Search: familial hyperaldosteronism): Open Targets Query (familial hyperaldosteronism, 15 results). Buniello, A. et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research.

5. (carvajal2012anewpresentation pages 1-3): Cristian A. Carvajal, Carmen Campino, Alejandro Martinez-Aguayo, Juan E. Tichauer, Rodrigo Bancalari, Carolina Valdivia, Pamela Trejo, Marlene Aglony, René Baudrand, Carlos F. Lagos, Cecilia Mellado, Hernán Garcia, and Carlos E. Fardella. A new presentation of the chimeric cyp11b1/cyp11b2 gene with low prevalence of primary aldosteronism and atypical gene segregation pattern. Hypertension, 59:85–91, Jan 2012. URL: https://doi.org/10.1161/hypertensionaha.111.180513, doi:10.1161/hypertensionaha.111.180513. This article has 36 citations and is from a domain leading peer-reviewed journal.

6. (monticone2018geneticsinendocrinology pages 1-5): Silvia Monticone, Fabrizio Buffolo, Martina Tetti, Franco Veglio, Barbara Pasini, and Paolo Mulatero. Genetics in endocrinology: the expanding genetic horizon of primary aldosteronism. European journal of endocrinology, 178 3:R101-R111, Mar 2018. URL: https://doi.org/10.1530/eje-17-0946, doi:10.1530/eje-17-0946. This article has 66 citations and is from a highest quality peer-reviewed journal.

7. (santana2022pathogenesisofprimary pages 2-4): Lucas S. Santana, Augusto G. Guimaraes, and Madson Q. Almeida. Pathogenesis of primary aldosteronism: impact on clinical outcome. Frontiers in Endocrinology, Jun 2022. URL: https://doi.org/10.3389/fendo.2022.927669, doi:10.3389/fendo.2022.927669. This article has 23 citations.

8. (khandelwal2022monogenicformsof pages 6-7): Priyanka Khandelwal and Jaap Deinum. Monogenic forms of low-renin hypertension: clinical and molecular insights. Pediatric Nephrology, 37:1495-1509, Aug 2022. URL: https://doi.org/10.1007/s00467-021-05246-x, doi:10.1007/s00467-021-05246-x. This article has 30 citations and is from a domain leading peer-reviewed journal.

9. (ekman2024whatweknow pages 2-4): Natalia Ekman, Ashley B. Grossman, and Dorota Dworakowska. What we know about and what is new in primary aldosteronism. International Journal of Molecular Sciences, 25:900, Jan 2024. URL: https://doi.org/10.3390/ijms25020900, doi:10.3390/ijms25020900. This article has 21 citations.

10. (araujocastro2024differencesinthe pages 2-3): Marta Araujo-Castro, Paola Parra, Patricia Martín Rojas-Marcos, Miguel Paja Fano, Marga González Boillos, Eider Pascual-Corrales, Ana María García Cano, Jorge Gabriel Ruiz-Sanchez, Almudena Vicente Delgado, Emilia Gómez Hoyos, Rui Ferreira, Iñigo García Sanz, Mònica Recasens Sala, Rebeca Barahona San Millan, María José Picón César, Patricia Díaz Guardiola, Carolina M. Perdomo, Laura Manjón-Miguélez, Rogelio García Centeno, Ángel Rebollo Román, Paola Gracia Gimeno, Cristina Robles Lázaro, Manuel Morales-Ruiz, María Calatayud, Simone Andree Furio Collao, Diego Meneses, Miguel Sampedro Nuñez, Verónica Escudero Quesada, Elena Mena Ribas, Alicia Sanmartín Sánchez, Cesar Gonzalvo Diaz, Cristina Lamas, María del Castillo Tous, Joaquín Serrano Gotarredona, Theodora Michalopoulou Alevras, Eva María Moya Mateo, and Felicia A. Hanzu. Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism. Frontiers in Endocrinology, Mar 2024. URL: https://doi.org/10.3389/fendo.2024.1336306, doi:10.3389/fendo.2024.1336306. This article has 6 citations.

11. (adler2025primaryaldosteronisman pages 5-6): Gail K Adler, Michael Stowasser, Ricardo R Correa, Nadia Khan, Gregory Kline, Michael J McGowan, Paolo Mulatero, M Hassan Murad, Rhian M Touyz, Anand Vaidya, Tracy A Williams, Jun Yang, William F Young, Maria-Christina Zennaro, and Juan P Brito. Primary aldosteronism: an endocrine society clinical practice guideline. The Journal of clinical endocrinology and metabolism, Jul 2025. URL: https://doi.org/10.1210/clinem/dgaf284, doi:10.1210/clinem/dgaf284. This article has 211 citations.

12. (mulatero2011prevalenceandcharacteristics pages 1-2): Paolo Mulatero, Davide Tizzani, Andrea Viola, Chiara Bertello, Silvia Monticone, Giulio Mengozzi, Domenica Schiavone, Tracy Ann Williams, Silvia Einaudi, Antonio La Grotta, Franco Rabbia, and Franco Veglio. Prevalence and characteristics of familial hyperaldosteronism: the patogen study (primary aldosteronism in torino-genetic forms). Hypertension, 58:797–803, Nov 2011. URL: https://doi.org/10.1161/hypertensionaha.111.175083, doi:10.1161/hypertensionaha.111.175083. This article has 189 citations and is from a domain leading peer-reviewed journal.

13. (aldosteronism1998intracranialaneurysmand pages 1-2): W. Aldosteronism, Reid, Lltchfield, Bruce, F. Anderson, Ruedlger, J. Weiss, Richard, P. Llfton, Robert, and Dluhy. Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism. Hypertension, 31 1 Pt 2:445-50, Jan 1998. URL: https://doi.org/10.1161/01.hyp.31.1.445, doi:10.1161/01.hyp.31.1.445. This article has 242 citations and is from a domain leading peer-reviewed journal.

14. (scholl2012hypertensionwithor pages 1-2): Ute I. Scholl, Carol Nelson-Williams, Peng Yue, Roger Grekin, Robert J. Wyatt, Michael J. Dillon, Robert Couch, Lisa K. Hammer, Frances L. Harley, Anita Farhi, Wen-Hui Wang, and Richard P. Lifton. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel kcnj5. Proceedings of the National Academy of Sciences, 109:2533-2538, Jan 2012. URL: https://doi.org/10.1073/pnas.1121407109, doi:10.1073/pnas.1121407109. This article has 304 citations and is from a highest quality peer-reviewed journal.

15. (daniil2016cacna1hmutationsare pages 1-2): Georgios Daniil, Fabio L Fernandes-Rosa, Jean Chemin, Iulia Blesneac, Jacques Beltrand, Michel Polak, Xavier Jeunemaitre, Sheerazed Boulkroun, Laurence Amar, Tim M Strom, Philippe Lory, and Maria-Christina Zennaro. Cacna1h mutations are associated with different forms of primary aldosteronism. EBioMedicine, 13:225-236, Nov 2016. URL: https://doi.org/10.1016/j.ebiom.2016.10.002, doi:10.1016/j.ebiom.2016.10.002. This article has 173 citations and is from a peer-reviewed journal.

16. (araujocastro2024differencesinthe pages 5-6): Marta Araujo-Castro, Paola Parra, Patricia Martín Rojas-Marcos, Miguel Paja Fano, Marga González Boillos, Eider Pascual-Corrales, Ana María García Cano, Jorge Gabriel Ruiz-Sanchez, Almudena Vicente Delgado, Emilia Gómez Hoyos, Rui Ferreira, Iñigo García Sanz, Mònica Recasens Sala, Rebeca Barahona San Millan, María José Picón César, Patricia Díaz Guardiola, Carolina M. Perdomo, Laura Manjón-Miguélez, Rogelio García Centeno, Ángel Rebollo Román, Paola Gracia Gimeno, Cristina Robles Lázaro, Manuel Morales-Ruiz, María Calatayud, Simone Andree Furio Collao, Diego Meneses, Miguel Sampedro Nuñez, Verónica Escudero Quesada, Elena Mena Ribas, Alicia Sanmartín Sánchez, Cesar Gonzalvo Diaz, Cristina Lamas, María del Castillo Tous, Joaquín Serrano Gotarredona, Theodora Michalopoulou Alevras, Eva María Moya Mateo, and Felicia A. Hanzu. Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism. Frontiers in Endocrinology, Mar 2024. URL: https://doi.org/10.3389/fendo.2024.1336306, doi:10.3389/fendo.2024.1336306. This article has 6 citations.

17. (aldosteronism1998intracranialaneurysmand pages 4-5): W. Aldosteronism, Reid, Lltchfield, Bruce, F. Anderson, Ruedlger, J. Weiss, Richard, P. Llfton, Robert, and Dluhy. Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism. Hypertension, 31 1 Pt 2:445-50, Jan 1998. URL: https://doi.org/10.1161/01.hyp.31.1.445, doi:10.1161/01.hyp.31.1.445. This article has 242 citations and is from a domain leading peer-reviewed journal.

18. (ylanenUnknownyeardiagnosticsofprimary pages 49-52): A YLÄNEN. Diagnostics of primary aldosteronism. Unknown journal, Unknown year.

19. (santana2022pathogenesisofprimary pages 4-5): Lucas S. Santana, Augusto G. Guimaraes, and Madson Q. Almeida. Pathogenesis of primary aldosteronism: impact on clinical outcome. Frontiers in Endocrinology, Jun 2022. URL: https://doi.org/10.3389/fendo.2022.927669, doi:10.3389/fendo.2022.927669. This article has 23 citations.

20. (adler2025primaryaldosteronisman pages 10-10): Gail K Adler, Michael Stowasser, Ricardo R Correa, Nadia Khan, Gregory Kline, Michael J McGowan, Paolo Mulatero, M Hassan Murad, Rhian M Touyz, Anand Vaidya, Tracy A Williams, Jun Yang, William F Young, Maria-Christina Zennaro, and Juan P Brito. Primary aldosteronism: an endocrine society clinical practice guideline. The Journal of clinical endocrinology and metabolism, Jul 2025. URL: https://doi.org/10.1210/clinem/dgaf284, doi:10.1210/clinem/dgaf284. This article has 211 citations.

21. (adler2025primaryaldosteronisman pages 6-7): Gail K Adler, Michael Stowasser, Ricardo R Correa, Nadia Khan, Gregory Kline, Michael J McGowan, Paolo Mulatero, M Hassan Murad, Rhian M Touyz, Anand Vaidya, Tracy A Williams, Jun Yang, William F Young, Maria-Christina Zennaro, and Juan P Brito. Primary aldosteronism: an endocrine society clinical practice guideline. The Journal of clinical endocrinology and metabolism, Jul 2025. URL: https://doi.org/10.1210/clinem/dgaf284, doi:10.1210/clinem/dgaf284. This article has 211 citations.

22. (adler2025primaryaldosteronisman media 47196b32): Gail K Adler, Michael Stowasser, Ricardo R Correa, Nadia Khan, Gregory Kline, Michael J McGowan, Paolo Mulatero, M Hassan Murad, Rhian M Touyz, Anand Vaidya, Tracy A Williams, Jun Yang, William F Young, Maria-Christina Zennaro, and Juan P Brito. Primary aldosteronism: an endocrine society clinical practice guideline. The Journal of clinical endocrinology and metabolism, Jul 2025. URL: https://doi.org/10.1210/clinem/dgaf284, doi:10.1210/clinem/dgaf284. This article has 211 citations.

23. (elston2024genetictestingfor pages 5-6): Marianne S. Elston, Jade A. U. Tamatea, Richard I. King, Chris M. Florkowski, and Veronica Boyle. Genetic testing for familial hyperaldosteronism type 1 in aotearoa/new zealand. Internal Medicine Journal, 54:1814-1820, Aug 2024. URL: https://doi.org/10.1111/imj.16511, doi:10.1111/imj.16511. This article has 3 citations and is from a peer-reviewed journal.

24. (mulatero2011prevalenceandcharacteristics pages 3-4): Paolo Mulatero, Davide Tizzani, Andrea Viola, Chiara Bertello, Silvia Monticone, Giulio Mengozzi, Domenica Schiavone, Tracy Ann Williams, Silvia Einaudi, Antonio La Grotta, Franco Rabbia, and Franco Veglio. Prevalence and characteristics of familial hyperaldosteronism: the patogen study (primary aldosteronism in torino-genetic forms). Hypertension, 58:797–803, Nov 2011. URL: https://doi.org/10.1161/hypertensionaha.111.175083, doi:10.1161/hypertensionaha.111.175083. This article has 189 citations and is from a domain leading peer-reviewed journal.

25. (adler2025primaryaldosteronisman pages 15-16): Gail K Adler, Michael Stowasser, Ricardo R Correa, Nadia Khan, Gregory Kline, Michael J McGowan, Paolo Mulatero, M Hassan Murad, Rhian M Touyz, Anand Vaidya, Tracy A Williams, Jun Yang, William F Young, Maria-Christina Zennaro, and Juan P Brito. Primary aldosteronism: an endocrine society clinical practice guideline. The Journal of clinical endocrinology and metabolism, Jul 2025. URL: https://doi.org/10.1210/clinem/dgaf284, doi:10.1210/clinem/dgaf284. This article has 211 citations.

26. (tsai2025screeninganddiagnosis pages 1-6): Cheng-Hsuan Tsai, Yu-Ching Chang, Zheng-Wei Chen, Stefanie Parisien-La Salle, Jenifer M Brown, Anand Vaidya, Vin-Cent Wu, and Yen-Hung Lin. Screening and diagnosis trends for primary aldosteronism: a longitudinal nationwide cohort study of 7.8 million people. MedRxiv, Nov 2025. URL: https://doi.org/10.1101/2025.11.13.25340212, doi:10.1101/2025.11.13.25340212. This article has 0 citations.