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 number8302
AbbreviationVDR
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexskeletal
Inheritanceautosomal recessive
Causalitycausally
GeneVDR
MutationDEL
LiteratureOMIA: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.

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