- Increased circulating aldosterone concentration (HP:0000859): Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. Evidence: PCS. Frequency: 3/3. (PMID:21311022)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:613677)
- Decreased circulating renin concentration (HP:0003351): An decreased level of renin in the blood. Evidence: PCS. Frequency: 13/13. (OMIM:613677;PMID:21311022)
- Adrenal hyperplasia (HP:0008221): Enlargement of the adrenal gland. Evidence: TAS. (OMIM:613677)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 3/3. (PMID:21311022)
- Hypercalciuria (HP:0002150). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:613677)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: TAS. (OMIM:613677)
- Polyuria (HP:0000103): An increased rate of urine production. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:613677)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:21311022)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:613677)
These phenotypes are associated with the disease familial hyperaldosteronism type III (OMIM:613677).