familial hyperaldosteronism type III
Findings
No curated finding names familial hyperaldosteronism type III yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0013359), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating renin concentrationHPOHP:0040084
- Obligate (100% of cases)
- HypertensionHPOHP:0000822
- 3 of 3 reported patients
- Obligate (100% of cases)
- Increased circulating aldosterone concentrationHPOHP:0000859
- 3 of 3 reported patients
- Adrenal hyperplasiaHPOHP:0008221
- Very frequent (80% to 99% of cases)
- Glucocortocoid-insensitive primary hyperaldosteronismHPOHP:0011740
- Very frequent (80% to 99% of cases)
- HypokalemiaHPOHP:0002900
- Very frequent (80% to 99% of cases)
Show the remaining 5
- Muscle weaknessHPOHP:0001324
- Occasional (5% to 29% of cases)
- NauseaHPOHP:0002018
- Occasional (5% to 29% of cases)
- PolydipsiaHPOHP:0001959
- Occasional (5% to 29% of cases)
- Prolonged QT intervalHPOHP:0001657
- Occasional (5% to 29% of cases)
- TinnitusHPOHP:0000360
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KCNJ5HGNC:6266
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: familial hyperaldosteronism type III
- Also called
- familial hyperaldosteronism type 3FH-IIIFH3