Phenotypes associated with the disease X-linked hypophosphatemia (ORPHA:89936):
- Multiple rib fractures (HP:0006640): More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Trapezoidal distal femoral condyles (HP:0006432). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Chiari type I malformation (HP:0007099): Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Vertebral hyperostosis (HP:0008442): Excessive growth of the bones of the vertebral bodies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Sacroiliac joint synovitis (HP:0012449): Inflammation of the synovial membrane of the sacroiliac joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Thick growth plates (HP:0025369): Increased thickness (dimension along the axis of the bone) of the growth plate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Enthesitis (HP:0100686). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Elevated circulating fibroblast growth factor 23 concentration (HP:6000407): The concentration of fibroblast growth factor 23 in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:89936)
- Generalized osteosclerosis (HP:0005789): An abnormal increase of bone mineral density with generalized involvement of the skeleton. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:89936)
- Cellulitis (HP:0100658): A bacterial infection and inflammation of the skin und subcutaneous tissues. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:89936)
- Renal phosphate wasting (HP:0000117): High urine phosphate in the presence of hypophosphatemia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:89936)
- 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:89936)
- 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:89936)
- Hypocalciuria (HP:0003127): An abnormally decreased calcium concentration in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:89936)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:89936)
- Abnormal lower-limb metaphysis morphology (HP:0006490). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:89936)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Odontodysplasia (HP:0000694): The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Rachitic rosary (HP:0000897): A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- 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:89936)
- Arthralgia (HP:0002829): Joint pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Genu varum (HP:0002970): A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- 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:89936)
- Disproportionate short stature (HP:0003498): A kind of short stature in which different regions of the body are shortened to differing extents. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Upper limb metaphyseal widening (HP:0003856): Increased width (breadth) of metaphyses of the arms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Reduced bone mineral density (HP:0004349): A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Abnormal epiphysis morphology (HP:0005930): An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Shortening of the talar neck (HP:0008117). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Flattening of the talar dome (HP:0008144). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Abnormal dentin morphology (HP:0010299): Any abnormality of dentin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Delayed ability to stand (HP:0025335): A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Tooth abscess (HP:0030757): A pocket of pus located within a region of a tooth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Delayed ability to walk (HP:0031936): A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:89936)
- Tinnitus (HP:0000360): Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- 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: Occasional (HP:0040283). (ORPHA:89936)
- Secondary hyperparathyroidism (HP:0000867): Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Enlargement of the costochondral junction (HP:0000920): Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Spinal cord compression (HP:0002176): External mechanical compression of the spinal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Flared iliac wing (HP:0002869): Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)
- Spinal canal stenosis (HP:0003416): An abnormal narrowing of the spinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:89936)