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Myxomatous Mitral Valve Disease (MMVD)
Breed: Cavalier King Charles Spaniel
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
General
Disease Name
Myxomatous Mitral Valve Disease (MMVD)
OMIA
-109
Gene Name
NEBL
Mutation
multiple variants; across NEBL1-3 especially important
Test Type
Genetic Disease/Disorder
Details
MMVD risk variants have been investigated, concluding that as part of a "big picture" approach to breeding practices, that selection for the wild-type variant at NEBL1-3 can reduce the risk of mitral valve disease in Cavalier King Charles Spaniels. PLEASE NOTE: MMVD is a complex inherited, multifactorial disease. Any test for reducing the risks of MMVD should be considered a risk-factor test and not specifically predictive or diagnostic.
Published
Mead SE, Beijerink NJ, O'Brien M, Wade CM. Genetic Variants at the Nebulette Locus Are Associated with Myxomatous Mitral Valve Disease Severity in Cavalier King Charles Spaniels. Genes (Basel). 2022 Dec 5;13(12):2292. doi: 10.3390/genes13122292. PMID: 36553559; PMCID: PMC9778376.
Published 2
Published 3
Bionda A, Cortellari M, Bagardi M, Frattini S, Negro A, Locatelli C, Brambilla PG, Crepaldi P. A Genomic Study of Myxomatous Mitral Valve Disease in Cavalier King Charles Spaniels. Animals (Basel). 2020 Oct 16;10(10):1895. doi: 10.3390/ani10101895. PMID: 33081147; PMCID: PMC7602727.
Body/System/Process
cardiovascular
Inheritance
RV
Breed Specific Info
Researched Breeds
Cavalier King Charles Spaniel
HSP Test-Specific Data
Laboklin Gmbh & Co. KG
GTP
Breed
OMIA
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