Vitamin-D abhängige Rachitis (VDR)
Vitamin D dependent rickets (VDR)
General description
The hereditary form of vitamin D-dependent rickets type II causes that calcium cannot be absorbed intestinally. Syptoms are skeletal malformation and hypomineralization of bones during growth at a young age. Because the VDR gene is also involved in the hair growth cycle, alopecia may occur as well.
Breeds
Pomeranian
Order details
| Test number | 8302 |
| Abbreviation | VDR |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | VDR |
| Mutation | DEL |
| Literature | OMIA:001431-9615 |
Detailed description
The hereditary form of vitamin D-dependent rickets type II is caused by a defect in the vitamin D receptor gene VDR, which makes the active hormone calcitriol unable to bind. As a consequence, calcium cannot be absorbed intestinally, which results in skeletal malformation and hypomineralization of bones during growth at a young age. Because the VDR gene is also involved in the hair growth cycle, alopecia may occur as well.
