Phenotypes associated with the disease Autosomal dominant polycystic kidney disease (ORPHA:730):
- 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: Very frequent (HP:0040281). (ORPHA:730)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:730)
- Hepatic cysts (HP:0001407). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:730)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:730)
- Decreased glomerular filtration rate (HP:0012213): An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:730)
- 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: Frequent (HP:0040282). (ORPHA:730)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:730)
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:730)
- Abnormal urinary electrolyte concentration (HP:0012591): An abnormality in the concentration of electrolytes in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:730)
- Albuminuria (HP:0012592): Increased concentration of albumin in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:730)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:730)
- 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:730)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:730)
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:730)
- Uric acid nephrolithiasis (HP:0000791): The presence of uric acid-containing calculi (stones) in the kidneys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:730)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:730)
- Pancreatic cysts (HP:0001737): A cyst of the pancreas that possess a lining of mucous epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:730)
- Aortic root aneurysm (HP:0002616): An abnormal localized widening (dilatation) of the aortic root. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:730)
- Dilatation of the cerebral artery (HP:0004944): The presence of a localized dilatation or ballooning of a cerebral artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:730)
- Polycystic liver disease (HP:0006557). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:730)
- Calcium oxalate nephrolithiasis (HP:0008672): The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:730)
- Abnormal systemic arterial morphology (HP:0011004): An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:730)
- Reduced sperm motility (HP:0012207): An abnormal reduction in the mobility of ejaculated sperm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:730)
- Pyelonephritis (HP:0012330): An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:730)
- Arachnoid cyst (HP:0100702): An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:730)
- Pituitary growth hormone cell adenoma (HP:0011760): A type of pituitary adenoma that produces growth hormone. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:730)