Phenotypes associated with the disease Hypocalcemic vitamin D-dependent rickets (ORPHA:289157):
- 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: Obligate (HP:0040280). (ORPHA:289157)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:289157)
- Decreased circulating calcitriol concentration (HP:0012052): The concentration of calcitriol in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:289157)
- 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: Very frequent (HP:0040281). (ORPHA:289157)
- Deformed rib cage (HP:0000886): Malformation of the rib cage. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- 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: Very frequent (HP:0040281). (ORPHA:289157)
- 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: Very frequent (HP:0040281). (ORPHA:289157)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- Tetany (HP:0001281): A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- 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:289157)
- 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:289157)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- 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: Very frequent (HP:0040281). (ORPHA:289157)
- Delayed epiphyseal ossification (HP:0002663). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- 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: Very frequent (HP:0040281). (ORPHA:289157)
- Sparse bone trabeculae (HP:0002752). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- Thin bony cortex (HP:0002753): Abnormal thinning of the cortical region of bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- Generalized aminoaciduria (HP:0002909): An increased concentration of all types of amino acid in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- 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: Very frequent (HP:0040281). (ORPHA:289157)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- Enlargement of the wrists (HP:0003020). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- Enlargement of the ankles (HP:0003029). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- Subperiosteal bone resorption (HP:0003106): Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- Irregular, rachitic-like metaphyses (HP:0005042). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- Flat occiput (HP:0005469): Reduced convexity of the occiput (posterior part of skull). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- Wide cranial sutures (HP:0010537): An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- Elevated alkaline phosphatase of bone origin (HP:0010639): An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:289157)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289157)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289157)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289157)
- Hypochromic anemia (HP:0001931): A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289157)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289157)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289157)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:289157)
- Delayed eruption of teeth (HP:0000684): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289157)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289157)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289157)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289157)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289157)
- Hypocalcemic seizures (HP:0002199). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289157)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289157)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:289157)