Phenotypes associated with the disease Dent disease (ORPHA:1652):
- 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:1652)
- Renal tubular atrophy (HP:0000092): The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)
- Focal segmental glomerulosclerosis (HP:0000097): Segmental accumulation of scar tissue in individual (but not all) glomeruli. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)
- Proximal tubulopathy (HP:0000114): Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)
- Renal phosphate wasting (HP:0000117): High urine phosphate in the presence of hypophosphatemia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1652)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1652)
- 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:1652)
- 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:1652)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1652)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1652)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1652)
- Hypercalciuria (HP:0002150). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)
- 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:1652)
- Delayed epiphyseal ossification (HP:0002663). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1652)
- 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: Occasional (HP:0040283). (ORPHA:1652)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)
- Abnormality of the lower limb (HP:0002814): An abnormality of the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1652)
- 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: Occasional (HP:0040283). (ORPHA:1652)
- Sparse bone trabeculae (HP:0002752). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1652)
- Thin bony cortex (HP:0002753): Abnormal thinning of the cortical region of bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1652)
- Aminoaciduria (HP:0003355): An increased concentration of an amino acid in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1652)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1652)
- Bulging epiphyses (HP:0003013): A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1652)
- Enlarged epiphyses (HP:0010580): Increased size of epiphyses. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1652)
- Enlargement of the wrists (HP:0003020). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1652)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1652)
- Enlargement of the ankles (HP:0003029). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1652)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)
- Hyperphosphaturia (HP:0003109): An increased excretion of phosphates in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)
- 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:1652)
- Hyperuricosuria (HP:0003149): An abnormally high level of uric acid in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)
- Tubulointerstitial fibrosis (HP:0005576): A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)
- Non-acidotic proximal tubulopathy (HP:0005574): A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)
- Renal hypophosphatemia (HP:0008732): Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)
- Mild global developmental delay (HP:0011342): A mild delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1652)
- Elevated circulating calcitriol concentration (HP:0031415): The concentration of calcitriol in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1652)