Phenotypes associated with the disease xanthinuria type I (OMIM:278300):
- Pyelonephritis (HP:0012330): An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. Evidence: TAS. (OMIM:278300)
- Impaired renal uric acid clearance (HP:0004732): A reduction in the ability of the kidneys to remove uric acid from the serum. Evidence: PCS. Frequency: 3/3. (PMID:9153281)
- Xanthinuria (HP:0010934): An increased concentration of xanthine in the urine. Evidence: TAS. (OMIM:278300)
- Xanthine nephrolithiasis (HP:0000804): The presence of xanthine-containing calculi (stones) in the kidneys. Evidence: IEA. (OMIM:278300)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: IEA. (OMIM:278300)
- 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: IEA. (OMIM:278300)
- Hyperxanthinemia (HP:0010933): An increased level of xanthine in the blood circulation. Evidence: PCS. Frequency: 4/4. (PMID:9153281)
- Hypouricemia (HP:0003537): The concentration of uric acid in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 4/4. (PMID:9153281)
- Reduced xanthine dehydrogenase level (HP:0003534): An abnormal reduction in xanthine dehydrogenase level. Evidence: TAS. (OMIM:278300)
- Reduced circulating xanthine oxidase activity (HP:6000218): Activity of the enzyme xanthine oxidase (EC 1.17.3.2) below the lower limit of normal. Evidence: PCS. Frequency: 4/4. (PMID:9153281)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: IEA. (OMIM:278300)