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Hypocalcemic rickets is a group of disorders in which the body cannot absorb enough calcium, leading to skeletal defects and other symptoms.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informations générales
Hypocalcemic rickets is a group of disorders in which the body cannot absorb enough calcium, leading to skeletal defects and other symptoms. While most are caused by a lack of Vitamin D, this variant in the German Spitz (Pomeranian; Vitamin D-Resistant Rickets, VDR-2A or HVDRR) is instead caused by a recessive mutation to the gene VDR.
Caractéristiques cliniques
The main symptom of Vitamin D-Resistant Rickets is hypocalcemia (low calcium levels), resulting in weakened and deformed limbs and intermittent lameness. Alopecia (hair loss) on the head, chest and limbs can also appear.
Additional Information
Références
Pubmed ID: 19909429
Omia ID: 1431