Phenotypes associated with the disease Hereditary renal hypouricemia (ORPHA:94088):
- Hyperuricosuria (HP:0003149): An abnormally high level of uric acid in the urine. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:94088)
- Hypouricemia (HP:0003537): The concentration of uric acid in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:94088)
- Postexertional symptom exacerbation (HP:0030973): Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:94088)
- Abnormal renal tubule morphology (HP:0000091): An abnormality of the renal tubules. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:94088)
- Acute kidney injury (HP:0001919): Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:94088)
- Uric acid urolithiasis independent of gout (HP:0008651). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:94088)
- Abnormal renal physiology (HP:0012211): An abnormal functionality of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:94088)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:94088)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:94088)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:94088)
- Hypercalciuria (HP:0002150). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:94088)
- Increased blood urea nitrogen (HP:0003138): An increased amount of nitrogen in the form of urea in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:94088)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:94088)
- Decreased glomerular filtration rate (HP:0012213): An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:94088)
- Mild proteinuria (HP:0012595): Mildly increased levels of protein in the urine (150-500 mg per day in adults). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:94088)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:94088)