Vitamin D-Resistant Rickets (VDR) – Cat
Kodas: K641
Short description
Vitamin D-Resistant Rickets (VDR) is a bone disease caused by an enzymatic pathway defect.
General information
Vitamin D-Resistant Rickets (VDR) is a bone disease caused by an enzymatic pathway defect. Rickets, also known as osteomalacia, is usually due to a lack of vitamin D or calcium, which can occur because of environmental and/or genetic factors. VDR causes symptoms that look the same as seen in individuals suffering from non-genetic lack of vitamin D.
Specifications
| Breeds | All Breeds |
|---|---|
| Gene | CYP27B1 |
| Chromosome | B4 |
| Mutation | c.637G>T |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
The symptoms are the same as those observed in non-genetic vitamin D deficiency, which usually result from a dietary calcium shortage. This leads to poor bone mineralization and eventually to skeletal deformities, pathologic fractures and delayed tooth development.
References
Pubmed ID: 22553308
Year published: 2012
Omia ID: 837
Omia variant ID:
Turnaround information
- 10 working days