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Van den Ende-Gupta Syndrome (VDEGS) is an inherited skeletal disorder.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
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.
Kliniske egenskaper
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.
Tilleggsinformasjon
Referanser
Pubmed ID: 27187611
Omia ID: 002016