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Search Term: Copper Toxicosis, COMMD1 Type
Breeds
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Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
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
OMIA Url
Inheritance
AR
Gene Name Text
copper metabolism (Murr1) domain containing 1
Researched Breeds
Bedlington Terrier
GTPs
Boston, MA
US
US
Embark
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/LAB Out Sourced Testing Any Patents Held Sponsor
Plzen
CZ
CZ
Genomia s.r.o
HGTD Leadership Sponsor In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Participation Pending
Bad Kissingen, Bavaria
DE
DE
Laboklin Gmbh & Co. KG
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Participation Pending Any Patents Held Supporter
Wageningen
NL
NL
VHL Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Out Sourced Testing Supporter
Naas, Co. Kildare
IE
IE
Weatherbys Scientific
In House Testing ISO Accredited/LAB ISO Accredited/tests Non-Participant Other Recognized Accreditation Out Sourced Testing Participation Pending Supporter
Zagreb
HR
HR
AnimaLabs
Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Participation Pending Supporter-
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