Phenotypes associated with the disease Autosomal dominant hypophosphatemic rickets (ORPHA:89937):
- 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:89937)
- Hyperphosphaturia (HP:0003109): An increased excretion of phosphates in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:89937)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89937)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89937)
- Iron deficiency anemia (HP:0001891). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89937)
- 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:89937)
- 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: Frequent (HP:0040282). (ORPHA:89937)
- 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:89937)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89937)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89937)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89937)
- Tooth abscess (HP:0030757): A pocket of pus located within a region of a tooth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89937)
- Decreased circulating vitamin D concentration (HP:0100512): The concentration of vitamin D in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89937)
- Bone fracture (HP:0020110): A partial or complete breakage of the continuity of a bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89937)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:89937)