Phenotypes associated with the disease xanthinuria type II (OMIM:603592):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/5. (PMID:17368066)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/5. (PMID:17368066)
- Xanthinuria (HP:0010934): An increased concentration of xanthine in the urine. Evidence: PCS. Frequency: 3/3. (PMID:17368066)
- Increased urinary hypoxanthine level (HP:0011814): The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:17368066)
- 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: TAS. Frequency: Occasional (HP:0040283). (OMIM:603592)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/5. (PMID:17368066)
- Increased circulating hypoxanthine concentration (HP:0034333): Elevated concentration of hypoxanthine in the blood circulation. Evidence: TAS. (OMIM:603592)
- 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:11302742)
- Hyperxanthinemia (HP:0010933): An increased level of xanthine in the blood circulation. Evidence: PCS. Frequency: 5/5. (PMID:17368066;PMID:11302742)
- Hypouricemia (HP:0003537): The concentration of uric acid in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:11302742)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: PCS. Frequency: 1/5. (PMID:17368066)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. Frequency: 2/5. (PMID:17368066)