Vitamin D-Resistant Rickets (VDR) – Pug
Kodas: H141
Short description
Vitamin D Resistant Rickets (VDR or VDR1A), Type IA, is a hereditary disorder found in Pugs.
General information
Vitamin D Resistant Rickets (VDR or VDR1A), Type IA, is a hereditary disorder found in Pugs. It is primarily caused by an autosomal recessive mutation in the CYP27B1 gene. This gene encodes the enzyme responsible for converting vitamin D into its active form, making the gene essential for regulating calcium and phosphorus metabolism. In VDR1A, the mutation can make the enzyme inactive or less effective, which reduces or blocks the activation of vitamin D. As a result, young dogs may develop serious bone and teeth deformities, along with growth problems.
Specifications
| Breeds | |
|---|---|
| Gene | CYP27B1 |
| Chromosome | 10 |
| Mutation | c.261C>A |
| Organ | Multiple systems |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | VDR |
Clinical features
Clinical signs include bone deformities such as bowed legs and growth retardation that especially appear in young dogs during periods of rapid growth (3 to 6 months of age). Affected dogs may exhibit lameness, pain in the bones or joints, and weakness or lethargy. Additionally, delayed teething or dental issues can occur, along with a soft or flattened skull in severe cases in puppies. Poor muscle tone is also commonly seen in affected dogs.
References
Pubmed ID: 37293695
Year published: 2023
Omia ID: 837
Omia variant ID:
Turnaround information
- 10 working days