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Copper Toxicosis, COMMD1 Type

General

Disease Name
Copper Toxicosis, COMMD1 Type
Disease Name 2
Wilson Disease, COMMD1 Type
OMIA
1988
Gene Name
COMMD1
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"
OMIM
607238
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.
Body/System/Process
Metabolic
Inheritance
AR
Gene Name Text
copper metabolism (Murr1) domain containing 1
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