- Renal tubular dysfunction (HP:0000124): Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Corneal crystals (HP:0000531). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Acidosis (HP:0001941): Abnormal acid accumulation or depletion of base. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Dehydration (HP:0001944). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Abnormal tubulointerstitial morphology (HP:0001969): An abnormality that involves the tubules and interstitial tissue of the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Renal Fanconi syndrome (HP:0001994): An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Hypophosphatemia (HP:0002148): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Rickets (HP:0002748): Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Hyperphosphaturia (HP:0003109): An increased excretion of phosphates in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Abnormal circulating electrolyte concentration (HP:0003111): Abnormality of the homeostasis (concentration) of a monoatomic ion. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- 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:411629)
- Aminoaciduria (HP:0003355): An increased concentration of an amino acid in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Hyperchloremic metabolic acidosis (HP:0004918): A form of metabolic acidosis with increased serum chloride levels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Abnormal circulating vitamin D concentration (HP:0100511): Concentration of vitamin D or a vitamin D metabolite in the blood circulation outside of normal limits. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:411629)
- Abnormal cornea morphology (HP:0000481): Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411629)
- Pigmentary retinopathy (HP:0000580): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411629)
- Abnormality of thyroid physiology (HP:0002926): An abnormal functionality of the thyroid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:411629)
- Abnormal cerebral white matter morphology (HP:0002500): An abnormality of the cerebral white matter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411629)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:411629)
These phenotypes are associated with the disease Infantile nephropathic cystinosis (ORPHA:411629).