Phenotypes associated with the disease primary hyperoxaluria type 2 (OMIM:260000):
- Elevated urinary L-glycerate level (HP:6000670): The amount of L-glycerate in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:28569194)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: PCS. (PMID:10484776)
- Abnormal circulating creatinine concentration (HP:0012100): An abnormal concentration of creatinine in the blood. Evidence: PCS. Frequency: 0/1. (PMID:28569194)
- Hyperoxaluria (HP:0003159): Increased excretion of oxalates in the urine. Evidence: PCS. Frequency: 5/5. (PMID:28569194;PMID:10484776)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: PCS. Frequency: 1/4. (PMID:10484776)
- 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. (OMIM:260000)
- Calcium oxalate nephrolithiasis (HP:0008672): The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. Evidence: PCS. Frequency: 3/5. (PMID:28569194;PMID:10484776)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:28569194)
- 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:10484776)
- Abnormality of urine calcium concentration (HP:0011280): An abnormality of calcium concentration in the urine. Evidence: PCS. Frequency: 0/1. (PMID:28569194)
- Reduced hepatic glyoxylate reductase activity (HP:6000638): Activity of glyoxylate reductase/hydroxypyruvate reductase (GRHPR; EC 1.1.1.79) in liver below the lower limit of normal. Evidence: PCS. (PMID:10484776)
- 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: PCS. Frequency: 0/1. (PMID:28569194)