Phenotypes associated with the disease Hereditary xanthinuria (ORPHA:3467):
- Hypouricemia (HP:0003537): The concentration of uric acid in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3467)
- Decreased urinary urate (HP:0011935): Decreased concentration of urate in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3467)
- Uric acid nephrolithiasis (HP:0000791): The presence of uric acid-containing calculi (stones) in the kidneys. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3467)
- Xanthine nephrolithiasis (HP:0000804): The presence of xanthine-containing calculi (stones) in the kidneys. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3467)
- Aldehyde oxidase deficiency (HP:0002932): A reduction in aldehyde oxidase level. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3467)
- Reduced xanthine dehydrogenase level (HP:0003534): An abnormal reduction in xanthine dehydrogenase level. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3467)
- Sulfite oxidase deficiency (HP:0003643): Abnormally reduced sulfite oxidase level. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3467)
- Hyperxanthinemia (HP:0010933): An increased level of xanthine in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3467)
- Xanthinuria (HP:0010934): An increased concentration of xanthine in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3467)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3467)
- Crystalluria (HP:0020074): The presence of crystals in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3467)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3467)
- 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:3467)
- 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: Occasional (HP:0040283). (ORPHA:3467)
- Arthropathy (HP:0003040). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3467)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3467)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3467)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3467)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3467)
- Flank pain (HP:0030157): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3467)
- Gout (HP:0001997): Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3467)