Phenotypes associated with the disease autosomal dominant pseudohypoaldosteronism type 1 (OMIM:177735):
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. (OMIM:177735)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. (OMIM:177735)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. (OMIM:177735)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 5/5. (PMID:9662404)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. (OMIM:177735)
- Increased circulating aldosterone concentration (HP:0000859): Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. Evidence: PCS. (PMID:9662404)
- Increased circulating renin concentration (HP:0000848): An increased level of renin in the blood. Evidence: TAS. (OMIM:177735)
- Pseudohypoaldosteronism (HP:0008242): A state of renal tubular unresponsiveness or resistance to the action of aldosterone. Evidence: PCS. (PMID:9662404)
- Dehydration (HP:0001944). Evidence: TAS. (OMIM:177735)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 3/5. (PMID:9662404)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: TAS. (OMIM:177735)
- 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:9662404)
- 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. (OMIM:177735)
- Hyperactive renin-angiotensin system (HP:0000841): An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. Evidence: TAS. (OMIM:177735)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. (PMID:9662404)