Vitamin D-Dependent Rickets
Vitamin D-dependent rickets, type IA (E213ter)
General description
Vitamin D-dependent rickets type IA (VDDR IA) is a metabolic disorder in which an enzyme deficiency in vitamin D metabolism prevents the body from adequately absorbing calcium from food. This results in insufficient bone mineralization, which in turn leads to an increased incidence of bone fractures and skeletal deformities. A cat with a described variant in the CYP27B1 gene exhibited symptoms such as lethargy, constipation, and generalized pain. A calcium deficiency (hypocalcemia) is often detected in the blood. Symptoms usually begin in the first few months of life.
Breeds
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Order details
| Test number | Included only in LABOGeneticsXXL – Cat |
Test specifications
| Inheritance | autosomal-recessive |
| Gene | CYP27B1 |
| Mutation | DEL |
| References | OMIA:000837-9685 |
Vitamin D-dependent rickets, type IA (R244Pfster32)
General description
Vitamin D-dependent rickets type IA (VDDR IA) is a metabolic disorder in which an enzyme deficiency in vitamin D metabolism prevents the body from adequately absorbing calcium from food. This results in insufficient bone mineralization, which in turn leads to an increased incidence of bone fractures and skeletal deformities. A cat with a described variant in the CYP27B1 gene exhibited symptoms such as hind limb lameness, lethargy, constipation, and generalized hypersensitivity to pain. A calcium deficiency (hypocalcemia) is often detected in the blood. Symptoms usually begin in the first few months of life.
Breeds
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Order details
| Test number | Included only in LABOGeneticsXXL – Cat |
Test specifications
| Inheritance | autosomal-recessive |
| Gene | CYP27B1 |
| Variant | G-T |
| References | OMIA:000837-9685 |
Vitamin D-Dependent Rickets, Type IB
General description
Vitamin D-dependent rickets type IB (VDDR IB) is a metabolic disorder in which an enzyme deficiency in vitamin D metabolism prevents the body from adequately absorbing calcium from food. This results in insufficient bone mineralization, which in turn leads to an increased incidence of bone fractures and skeletal deformities. A cat with a described variant in the CYP2R1 gene exhibited symptoms such as lethargy, seizures, and generalized hypersensitivity to pain. A calcium deficiency (hypocalcemia) is often detected in the blood. Symptoms usually begin in the first few months of life.
Breeds
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Order details
| Test number | Included only in LABOGeneticsXXL – Cat |
Test specifications
| Inheritance | autosomal-recessive |
| Gene | CYP2R1 |
| Mutation | DEL |
| References | OMIA:002221-9685 |
