Phenotypes associated with the disease vitamin D-dependent rickets, type 1A (OMIM:264700):
- Delayed epiphyseal ossification (HP:0002663). Evidence: IEA. (OMIM:264700)
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. (OMIM:264700)
- 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: PCS. Frequency: 1/1. (PMID:26734137)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: TAS. (OMIM:264700)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 1/1. (PMID:26734137)
- 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:264700)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:26734137)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:264700)
- Abdominal wall muscle weakness (HP:0009023): Decreased strength of the abdominal musculature. Evidence: IEA. (OMIM:264700)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/4. (PMID:9486994)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: IEA. (OMIM:264700)
- Renal phosphate wasting (HP:0000117): High urine phosphate in the presence of hypophosphatemia. Evidence: PCS. Frequency: 1/1. (PMID:26734137)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. Frequency: 1/1. (PMID:26734137)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 1/1. (PMID:26734137)
- Enlargement of the ankles (HP:0003029). Evidence: IEA. (OMIM:264700)
- 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: IEA. (OMIM:264700)
- Flat occiput (HP:0005469): Reduced convexity of the occiput (posterior part of skull). Evidence: IEA. (OMIM:264700)
- Sparse bone trabeculae (HP:0002752). Evidence: IEA. (OMIM:264700)
- Bulging of the costochondral junction (HP:0000893): Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage. Evidence: IEA. (OMIM:264700)
- Hypocalcemic seizures (HP:0002199). Evidence: IEA. (OMIM:264700)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: PCS. Frequency: 1/1. (PMID:26734137)
- Widely patent fontanelles and sutures (HP:0004492): An abnormally increased width of the cranial fontanelles and sutures. Evidence: IEA. (OMIM:264700)
- Generalized aminoaciduria (HP:0002909): An increased concentration of all types of amino acid in the urine. Evidence: PCS. Frequency: 1/1. (PMID:26734137)
- 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: PCS. Frequency: 5/5. (PMID:26734137;PMID:9486994)
- 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:9486994)
- 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: IEA. (OMIM:264700)
- Reduced subcutaneous adipose tissue (HP:0003758): A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. Evidence: PCS. Frequency: 1/1. (PMID:26734137)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 5/5. (PMID:26734137;PMID:9486994)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: TAS. (OMIM:264700)
- Deformed rib cage (HP:0000886): Malformation of the rib cage. Evidence: IEA. (OMIM:264700)
- Hypophosphatemia (HP:0002148): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 11/11. (PMID:26734137;OMIM:264700)
- Difficulty standing (HP:0003698). Evidence: IEA. (OMIM:264700)
- Bulging epiphyses (HP:0003013): A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). Evidence: IEA. (OMIM:264700)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: IEA. (OMIM:264700)
- Fibular bowing (HP:0010502): A bending or abnormal curvature of the fibula. Evidence: TAS. (OMIM:264700)
- Ketonuria (HP:0002919): High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. Evidence: PCS. Frequency: 1/1. (PMID:26734137)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:264700)
- 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: IEA. (OMIM:264700)
- Decreased circulating calcitriol concentration (HP:0012052): The concentration of calcitriol in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 5/5. (PMID:26734137;PMID:9486994)
- 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: 0/4. (PMID:9486994)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: IEA. (OMIM:264700)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 1/1. (PMID:26734137)
- Hypocalciuria (HP:0003127): An abnormally decreased calcium concentration in the urine. Evidence: PCS. Frequency: 1/1. (PMID:26734137)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: PCS. Frequency: 1/1. (PMID:26734137)
- 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: PCS. Frequency: 1/1. (PMID:26734137)
- Thin bony cortex (HP:0002753): Abnormal thinning of the cortical region of bones. Evidence: IEA. (OMIM:264700)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: PCS. Frequency: 1/1. (PMID:26734137)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: IEA. (OMIM:264700)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: IEA. (OMIM:264700)
- Enlargement of the wrists (HP:0003020). Evidence: IEA. (OMIM:264700)
- Metaphyseal cupping (HP:0003021): Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. Evidence: PCS. Frequency: 1/1. (PMID:26734137)
- Abnormal circulating chloride concentration (HP:0011422): Any deviation from the normal concentration of chloride in the blood circulation. Evidence: PCS. Frequency: 0/1. (PMID:26734137)
- Secondary hyperparathyroidism (HP:0000867): Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia. Evidence: IEA. (OMIM:264700)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:264700)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. (OMIM:264700)