Phenotypes associated with the disease vitamin D-dependent rickets, type 2A (OMIM:277440):
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. (OMIM:277440)
- Delayed epiphyseal ossification (HP:0002663). Evidence: IEA. (OMIM:277440)
- Alopecia universalis (HP:0002289): Loss of all hair on the entire body. Evidence: PCS. Frequency: 1/1. (PMID:17970811)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: PCS. Frequency: 1/1. (PMID:17970811)
- Difficulty standing (HP:0003698). Evidence: IEA. (OMIM:277440)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: TAS. (OMIM:277440)
- 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: IEA. (OMIM:277440)
- Bulging epiphyses (HP:0003013): A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). Evidence: IEA. (OMIM:277440)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 1/1. (PMID:17970811)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: IEA. (OMIM:277440)
- 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:277440)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: IEA. (OMIM:277440)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:277440)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: IEA. (OMIM:277440)
- Fibular bowing (HP:0010502): A bending or abnormal curvature of the fibula. Evidence: TAS. (OMIM:277440)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:277440)
- Abdominal wall muscle weakness (HP:0009023): Decreased strength of the abdominal musculature. Evidence: IEA. (OMIM:277440)
- 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:277440)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: IEA. (OMIM:277440)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: IEA. (OMIM:277440)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: IEA. (OMIM:277440)
- Thin bony cortex (HP:0002753): Abnormal thinning of the cortical region of bones. Evidence: IEA. (OMIM:277440)
- 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:277440)
- Enlargement of the ankles (HP:0003029). Evidence: IEA. (OMIM:277440)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: IEA. (OMIM:277440)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:17970811)
- Flat occiput (HP:0005469): Reduced convexity of the occiput (posterior part of skull). Evidence: IEA. (OMIM:277440)
- Sparse bone trabeculae (HP:0002752). Evidence: IEA. (OMIM:277440)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: TAS. (OMIM:277440)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: IEA. (OMIM:277440)
- Hypocalcemic seizures (HP:0002199). Evidence: IEA. (OMIM:277440)
- Bulging of the costochondral junction (HP:0000893): Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage. Evidence: IEA. (OMIM:277440)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 1/1. (PMID:17970811)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: IEA. (OMIM:277440)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: IEA. (OMIM:277440)
- Elevated circulating parathyroid hormone level (HP:0003165): An abnormal increased concentration of parathyroid hormone. Evidence: IEA. (OMIM:277440)
- Enlargement of the wrists (HP:0003020). Evidence: IEA. (OMIM:277440)
- Widely patent fontanelles and sutures (HP:0004492): An abnormally increased width of the cranial fontanelles and sutures. Evidence: IEA. (OMIM:277440)
- Elevated circulating calcitriol concentration (HP:0031415): The concentration of calcitriol in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:277440)
- 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: 1/1. (PMID:17970811)
- 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:17970811)
- 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:277440)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: TAS. (OMIM:277440)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 1/1. (PMID:17970811)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. (OMIM:277440)
- Hypophosphatemia (HP:0002148): The concentration of phosphate ion in the blood circulation is below the lower limit of normal. Evidence: IEA. (OMIM:277440)
- Deformed rib cage (HP:0000886): Malformation of the rib cage. Evidence: IEA. (OMIM:277440)