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Hypocatalasia (Acatalasemia)
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Hypocatalasia (Acatalasemia)
OMIA
1138
Gene Name
CAT
Gene Name 2
SLC2A9
Mutation
c.979G>A
Mutation 2
c.979G>A
Test Type
Genetic Disease/Disorder
Details
Hypocatalasia is considered to be a rare genetic disorder. Symptoms have been poorly described or are missing from the literature. It is suspected that affected dogs have a higher risk of developing open sores (ulcers) inside the mouth that may lead to gangrene of the mouth. Affected dogs most commonly show no or few signs, and the disorder is usually diagnosed when checking other symptoms.
Details 2
Hypocatalasia is a genetic disorder characterized by impaired catalase activity in the erythrocytes. Symptoms have been poorly described or are missing from the literature. It is suspected that affected dogs have a higher risk of developing open sores (ulcers) inside the mouth that may lead to gangrene. Affected dogs are most commonly asymptomatic and the disorder is usually diagnosed when checking other symptoms. When the symptoms are present, they usually include oral gangrene and ulcer. Generally considered to be rare.
Published
Nakamura, K., Watanabe, M., Takanaka, K., Sasaki, Y., Ikeda, T. : cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced proteolysis of mutant enzyme International Journal of Biochemistry & Cell Biology 32:1183-1193, 2000. Pubmed reference: 11137458.
Published 2
Donner, J., Kaukonen, M., Anderson, H., Moller, F., Kyostila, K., Sankari, S., Hytonen, M., Giger, U., Lohi, H. : Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One 11:e0161005, 2016. Pubmed reference: 27525650. DOI: 10.1371/journal.pone.0161005.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
