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Vitamin D-deficieny rickets (VDDR), type I is a metabolic bone disease as a result of an enzymatic pathway defect.
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Specifications
Breeds | |
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Gene | |
Organ | |
specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
Year Published |
General information
Vitamin D-deficieny rickets (VDDR), type I is a metabolic bone disease as a result of an enzymatic pathway defect. Rickets (Osteomalacia) is most commonly caused by vitamin D or calcium deficiencies owing to both environmental and or genetic abnormalities. VDDR-1 results in clinical signs indistinguishable from those seen in individuals suffering from non-genetic lack of vitamin D.
Clinical features
A failure of calcification of bones leads to softening and bowing of limbs. This results in an increased prevalence of fractures and deformities. Furthermore it results in delayed dentition.
Additional information
References
Pubmed ID: 22553308
Omia ID: 837