Phenotypes associated with the disease vitamin D hydroxylation-deficient rickets, type 1B (OMIM:600081):
- Delayed epiphyseal ossification (HP:0002663). Evidence: IEA. (OMIM:600081)
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. (OMIM:600081)
- Difficulty standing (HP:0003698). Evidence: IEA. (OMIM:600081)
- Bulging epiphyses (HP:0003013): A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). Evidence: IEA. (OMIM:600081)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: TAS. (OMIM:600081)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 1/1. (PMID:15128933)
- 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: IEA. (OMIM:600081)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: IEA. (OMIM:600081)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:600081)
- Fibular bowing (HP:0010502): A bending or abnormal curvature of the fibula. Evidence: TAS. (OMIM:600081)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:600081)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:15128933)
- Decreased circulating calcifediol concentration (HP:0012053): A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3. Evidence: PCS. Frequency: 1/1. (PMID:15128933)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: IEA. (OMIM:600081)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: IEA. (OMIM:600081)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: IEA. (OMIM:600081)
- Thin bony cortex (HP:0002753): Abnormal thinning of the cortical region of bones. Evidence: IEA. (OMIM:600081)
- Enlargement of the ankles (HP:0003029). Evidence: IEA. (OMIM:600081)
- Flat occiput (HP:0005469): Reduced convexity of the occiput (posterior part of skull). Evidence: IEA. (OMIM:600081)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: IEA. (OMIM:600081)
- Sparse bone trabeculae (HP:0002752). Evidence: IEA. (OMIM:600081)
- Bulging of the costochondral junction (HP:0000893): Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage. Evidence: TAS. (OMIM:600081)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: IEA. (OMIM:600081)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: IEA. (OMIM:600081)
- Enlargement of the wrists (HP:0003020). Evidence: IEA. (OMIM:600081)
- Widely patent fontanelles and sutures (HP:0004492): An abnormally increased width of the cranial fontanelles and sutures. Evidence: IEA. (OMIM:600081)
- 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: IEA. (OMIM:600081)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:15128933)
- 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. (OMIM:600081)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:15128933)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:600081)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. (OMIM:600081)
- Deformed rib cage (HP:0000886): Malformation of the rib cage. Evidence: IEA. (OMIM:600081)
- Hypophosphatemia (HP:0002148): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:15128933)