Phenotypes associated with the disease Mild phosphoribosylpyrophosphate synthetase superactivity (ORPHA:411536):
- Hyperuricemia (HP:0002149): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411536)
- Hyperuricosuria (HP:0003149): An abnormally high level of uric acid in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411536)
- Increased phosphoribosylpyrophosphate synthetase level (HP:0003240): Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411536)
- Uric acid nephrolithiasis (HP:0000791): The presence of uric acid-containing calculi (stones) in the kidneys. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411536)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411536)
- Crystalluria (HP:0020074): The presence of crystals in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411536)
- 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). (ORPHA:411536)
- 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:411536)
- Stage 4 chronic kidney disease (HP:0012626): A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411536)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:411536)
Not associated with this disease:
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. (ORPHA:411536)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. (ORPHA:411536)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. (ORPHA:411536)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. (ORPHA:411536)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. (ORPHA:411536)