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Menkes Disease
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Menkes Disease
OMIA
640
Gene Name
ATP7A
Mutation
c.980C>T
Mutation 2
g.60279238C>T
Mutation 3
p.T327I
Test Type
Genetic Disease/Disorder
Details
Menkes disease is characterized by neurological deterioration caused by accumulation of copper in the intestine and kidneys and low copper levels in the liver and brain. The disorder causes severe brain degeneration and arterial changes, resulting in death in infancy. However, the mutation of ATP7A may have a protective or beneficial aspect for dogs with the mutation of ATP7B. See: Copper Toxicosis ATP7B Type.
Details 2
Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. Mutations in ATP7B lead to Wilson disease, which is characterized by a predominantly hepatic copper accumulation... (From Fieten et al, 2016) However, the mutation of ATP7A may have a protective or beneficial aspect for dogs with the mutation of ATP7B. See: Copper Toxicosis ATP7B Type.
Published
Fieten, H., Gill, Y., Martin, A.J., Concilli, M., Dirksen, K., van Steenbeek, F.G., Spee, B., van den Ingh, T.S., Martens, E.C., Festa, P., Chesi, G., van de Sluis, B., Houwen, R.H., Watson, A.L., Aulchenko, Y.S., Hodgkinson, V.L., Zhu, S., Petris, M.J., Polishchuk, R.S., Leegwater, P.A., 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 9:25-38, 2016. Pubmed reference: 26747866. DOI: 10.1242/dmm.020263.
Body/System/Process
Metabolic
OMIA Url
Inheritance
XR
Breed Specific Info
Researched Breeds
Labrador Retriever
