Phenotypes associated with the disease hyperaldosteronism, familial, type IV (OMIM:617027):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/5. (PMID:25907736)
- Increased circulating aldosterone concentration (HP:0000859): Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. Evidence: PCS. Frequency: 5/5. (PMID:25907736)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/5. (PMID:25907736)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/5. (PMID:25907736)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 5/5. (PMID:25907736)
- 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:25907736)
- Elevated aldosterone:renin ratio (HP:6000318): The ratio of aldosterone concentration to renin concentration is above the upper limit of normal. If aldosterone is expressed in ng/dl and plasma renin activity is expressed as ng/ml/hr, then values above 20 with aldosterone level above 15 are considered indicative of primary aldosteronism. Evidence: PCS. Frequency: 5/5. (PMID:25907736)