Phenotypes associated with the disease pseudohypoaldosteronism type 2B (OMIM:614491):
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:614491)
- Pseudohypoaldosteronism (HP:0008242): A state of renal tubular unresponsiveness or resistance to the action of aldosterone. Evidence: IEA. (OMIM:614491)
- Hyperchloremic metabolic acidosis (HP:0004918): A form of metabolic acidosis with increased serum chloride levels. Evidence: TAS. (OMIM:614491)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. (OMIM:614491)
- Hyperchloremia (HP:0011423): The concentration of chloride in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:614491)
- 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: TAS. (OMIM:614491)