Phenotypes associated with the disease Cystinuria (ORPHA:214):
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:214)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:214)
- Hyperuricemia (HP:0002149): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:214)
- Abnormal urinary odor (HP:0012088): A deviation from the normal odor of the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:214)
- Hypocitraturia (HP:0012405): A lower than normal concentration of citrate(3-) in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:214)
- 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: Frequent (HP:0040282). (ORPHA:214)
- Cystine crystalluria (HP:0033067). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:214)
- Hypercalciuria (HP:0002150). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:214)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:214)
- 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: Very frequent (HP:0040281). (ORPHA:214)
- Cystinuria (HP:0003131): An increased concentration of cystine in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:214)
- Abnormality of amino acid metabolism (HP:0004337): Abnormality of an amino acid metabolic process. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:214)
- 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: Frequent (HP:0040282). (ORPHA:214)
- Hyperuricosuria (HP:0003149): An abnormally high level of uric acid in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:214)
- Echogenic fetal colon (HP:6000916): A type of echogenic fetal bowel in which the hyperechogenicity is strictly limited to the colon. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:214)