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Van den Ende-Gupta Syndrome (VDEGS) is an inherited skeletal disorder.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Van den Ende-Gupta Syndrome (VDEGS) is an inherited skeletal disorder. It is due to an autosomal recessive mutation in the scavenger receptor class F, member 2 (SCARF2) gene, which plays a critical role in the bone mineralization and skeletal development. VDEGS is characterized by significant skeletal abnormalities such as joint luxations and related orthopedic issues. It is a rare but severe disorder that is primarily seen in Wire Fox Terriers.
Clinical features
Affected dogs have a prominent underbite due to a short upper jaw (maxilla). Other clinical manifestations include luxation of the elbow or patella (dislocated kneecap), swollen knee joints and skeletal deformities such as bowed legs.
Additional information
References
Pubmed ID: 27187611
Omia ID: 002016