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Van den Ende-Gupta Syndrome
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Van den Ende-Gupta Syndrome
OMIA
2016
Gene Name
SCARF2
Mutation
c.865_866delTC
Mutation 2
c.865_866delTC
Test Type
Genetic Disease/Disorder
Details
Van den Ende-Gupta syndrome is a syndrome present from birth, causing severe undershot jaws and other skeletal features, and severe patellar luxation.
Details 2
Hytönen et al. (2016): "Wire Fox Terrier breeders contacted us for help in the characterization of an unknown congenital syndrome with severe mandibular prognathia and other skeletal features, mainly severe patellar luxation, in the breed"
Published
Hytönen, M.K., Arumilli, M., Lappalainen, A.K., Owczarek-Lipska, M., Jagannathan, V., Hundi, S., Salmela, E., Venta, P., Sarkiala, E., Jokinen, T., Gorgas, D., Kere, J., Nieminen, P., Drögemüller, C., Lohi, H. : Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet 12:e1006037, 2016. Pubmed reference: 27187611. DOI: 10.1371/journal.pgen.1006037.
Body/System/Process
Skeletal
OMIA Url
Inheritance
unknown
