Phenotypes associated with the disease hypouricemia, renal 1 (OMIM:220150):
- Uric acid nephrolithiasis (HP:0000791): The presence of uric acid-containing calculi (stones) in the kidneys. Evidence: PCS. Frequency: 2/2. (PMID:14655203)
- Urolithiasis (HP:0034368): Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra. Evidence: PCS. Frequency: 2/2. (PMID:14655203)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 1/2. (PMID:14655203)
- Oliguria (HP:0100520): Low output of urine, clinically classified as an output below 300-500ml/day. Evidence: PCS. Frequency: 1/2. (PMID:14655203)
- Elevated fractional excretion of urate (HP:6000746): Abnormally increased proportion of filtered urate that is excreted in the urine as calculated using the concentrations of urate and creatinine in both blood and urine. Clinically this manifests as uric acid wasting. Evidence: PCS. Frequency: 3/3. (PMID:14655203;PMID:12024214)
- 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: PCS. Frequency: 2/2. (PMID:14655203)
- Intermediate young adult onset (HP:0025709): Onset of disease at an age of greater than or equal to 19 to under 25 years. Evidence: PCS. Frequency: 1/2. (PMID:14655203)
- Renal tubular epithelial necrosis (HP:0008682): Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). Evidence: PCS. Frequency: 2/2. (PMID:14655203)
- Renal cortical hyperechogenicity (HP:0033132): Increased echogenecity of the kidney cortex. Evidence: PCS. Frequency: 2/2. (PMID:14655203)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:12024214)
- Late young adult onset (HP:0025710): Onset of disease at an age of greater than or equal to 25 to under 40 years. Evidence: PCS. Frequency: 1/2. (PMID:14655203)
- Hypouricemia (HP:0003537): The concentration of uric acid in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:14655203;PMID:12024214)
- Hyperuricosuria (HP:0003149): An abnormally high level of uric acid in the urine. Evidence: PCS. Frequency: 1/1. (PMID:12024214)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: PCS. Frequency: 1/2. (PMID:14655203)