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Relevance Rating: Some evidence for test being meaningful in this breed
General
Disease Name
Copper Toxicosis, COMMD1 Type
Mutation
c.179-36.6kb_458+2.9kbdel39.8k
Mutation 2
deletion "breakpoints were positioned at 65.3091 and 65.3489 Mb of dog chromosome 10, in intron 1 and intron 2 of COMMD1 respectively, a deletion of 39.7 kb"
Test Type
Genetic Disease/Disorder
Details
Wilson's disease, and Copper Toxicosis (COMMD1 type) are hereditary diseases in which failure of the liver to expel dietary copper leads to a build-up of this toxic metal causing illness and death. It should be noted that there can be other, non-hereditary causes of copper built-up. In addition, it is possible there are breed-specific forms of these diseases where the mutations responsible have not yet been identified.
Details 2
A disorder of copper metabolism, due to a deficiency of ceruloplasmin, which forms a complex with copper. The excess copper is deposited in the brain (causing mental retardation) or the liver (causing jaundice and cirrhosis).
Published
Favier, R.P., Spee, B., Schotanus, B.A., van den Ingh, T.S., Fieten, H., Brinkhof, B., Viebahn, C.S., Penning, L.C., Rothuizen, J. : COMMD1-Deficient Dogs Accumulate Copper in Hepatocytes and Provide a Good Model for Chronic Hepatitis and Fibrosis. PLoS One 7:e42158, 2012. Pubmed reference: 22879914. DOI: 10.1371/journal.pone.0042158.
