Disease overview

Wilson's disease is a copper metabolism disorder. When the liver cannot properly excrete copper, the excess copper accumulates in the brain or the liver, causing neurological problems and compromising liver function.

Gene name

ATP7B

Inheritance

Autosomal dominant with incomplete penetrance

Signs and symptoms

Clinical signs of liver dysfunction include weight loss, anorexia, diarrhea, vomiting, jaundice, and lethargy.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Labwork and other diagnostics to determine liver function may be indicated. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs. It is important to note that if a dog carries mutations in both the ATP7A and ATP7B genes, this genotype may have a neutralizing effect on hepatic copper levels (resulting in clinically normal levels), at least in Labrador Retrievers. The effect of carrying both mutations in Dobermanns is currently unknown.

Breeds at higher risk

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Citations

Fieten H, Gill Y, Martin AJ, Concilli M, Dirksen K, van Steenbeek FG, Spee B, van den Ingh TS, Martens EC, Festa P, Chesi G, van de Sluis B, Houwen RH, Watson AL, Aulchenko YS, Hodgkinson VL, Zhu S, Petris MJ, Polishchuk RS, Leegwater PA, Rothuizen J. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders. Dis Model Mech. 2016 Jan;9(1):25-38. doi: 10.1242/dmm.020263. PMID: 26747866; PMCID: PMC4728329.

Wu X, Mandigers PJJ, Watson AL, van den Ingh TSGAM, Leegwater PAJ, Fieten H. Association of the canine ATP7A and ATP7B with hepatic copper accumulation in Dobermann dogs. J Vet Intern Med. 2019 Jul;33(4):1646-1652. doi: 10.1111/jvim.15536. Epub 2019 Jun 29. PMID: 31254371; PMCID: PMC6639496.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.