Phenotypes associated with the disease Primary Fanconi renotubular syndrome (ORPHA:3337):
- Renal phosphate wasting (HP:0000117): High urine phosphate in the presence of hypophosphatemia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3337)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3337)
- Proximal renal tubular acidosis (HP:0002049): A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3337)
- Generalized aminoaciduria (HP:0002909): An increased concentration of all types of amino acid in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3337)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3337)
- Low-molecular-weight proteinuria (HP:0003126): Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3337)
- Hyperuricosuria (HP:0003149): An abnormally high level of uric acid in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3337)
- Bicarbonaturia (HP:0003646): Abnormally increased concentration of hydrogencarbonate in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3337)
- Bicarbonate-wasting renal tubular acidosis (HP:0004910). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3337)
- Hyperchloremic metabolic acidosis (HP:0004918): A form of metabolic acidosis with increased serum chloride levels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3337)
- Abnormal urine pH (HP:0032943): A deviation of urine pH from the normal range of 4.5 to 7.8. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3337)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3337)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3337)
- Hypophosphatemia (HP:0002148): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3337)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3337)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3337)
- Osteomalacia (HP:0002749): Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3337)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3337)
- Increased urinary potassium (HP:0003081): An increased concentration of potassium(1+) in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3337)
- Decreased circulating carnitine concentration (HP:0003234): Concentration of carnitine in the blood circulation below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3337)
- Hypouricemia (HP:0003537): The concentration of uric acid in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3337)
- Hypophosphatemic rickets (HP:0004912). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3337)
- Renal sodium wasting (HP:0012606): An abnormally increased sodium concentration in the urine in the presence of hyponatremia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3337)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3337)
- Dehydration (HP:0001944). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3337)
- Hypercalciuria (HP:0002150). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3337)
- 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: Occasional (HP:0040283). (ORPHA:3337)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3337)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3337)