Phenotypes associated with the disease nephrogenic syndrome of inappropriate antidiuresis (OMIM:300539):
- Hyposthenuria (HP:0003158): An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. Evidence: PCS. Frequency: 1/2. (PMID:15872203)
- Decreased serum creatinine (HP:0012101): An abnormally reduced amount of creatinine in the blood. Evidence: PCS. Frequency: 1/2. (PMID:15872203)
- Elevated systolic blood pressure (HP:0004421): Abnormal increase in systolic blood pressure. Evidence: PCS. Frequency: 2/2. (PMID:15872203)
- Reduced blood urea nitrogen (HP:0031969): An abnormally low concentration of urea nitrogen in the blood. Evidence: PCS. Frequency: 2/2. (PMID:15872203)
- Generalized-onset seizure (HP:0002197): A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. Evidence: PCS. Frequency: 1/2. (PMID:15872203)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: PCS. Frequency: 1/2. (PMID:15872203)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:15872203)
- Decreased circulating renin concentration (HP:0003351): An decreased level of renin in the blood. Evidence: PCS. Frequency: 2/2. (PMID:15872203)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/2. (PMID:15872203)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:15872203)
- Hypernatriuria (HP:0012605): An increased concentration of sodium(1+) in the urine. Evidence: PCS. Frequency: 2/2. (PMID:15872203)
- Abnormal circulating aldosterone concentration (HP:0040085). Evidence: PCS. Frequency: 0/2. (PMID:15872203)