Vitamin D-Resistant Rickets (VDR) – German Spitz (Pomeranian)
Code: H433
Short description
Vitamin D-Resistant Rickets (VDR; a.k.a. 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 of Rickets (VDR-2A or HVDRR) in the German Spitz (Pomeranian) is instead caused by a recessive mutation to the VDR gene.
General information
Vitamin D-Resistant Rickets (VDR; a.k.a. 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 of Rickets (VDR-2A or HVDRR) in the German Spitz (Pomeranian) is instead caused by a recessive mutation to the VDR gene.
Specifications
| Breeds | |
|---|---|
| Gene | VDR |
| Chromosome | 27 |
| Mutation | c.462delG |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | HVDRR |
Clinical features
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.
References
Pubmed ID: 19909429
Year published: 2009
Omia ID: 1431
Omia variant ID:
Turnaround information
- 15 working days