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Imerslund-Gräsbeck Syndrome (IGS), also known as Selective Intestinal Cobalamin Malabsorption (ICM), is a disorder in which the intestines fail to absorb enough Vitamin B12.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 2 |
| Mutation | c.8746+1G>A |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | I-GS |
General information
Imerslund-Gräsbeck Syndrome (IGS), also known as Selective Intestinal Cobalamin Malabsorption (ICM), is a disorder in which the intestines fail to absorb enough Vitamin B12. This variant, caused by a recessive mutation to the gene CUBN, is found in the Komondor. Closely related variants also occur in the Border Collie and Beagle.
Clinical features
Vitamin B12 deficiency caused by IGS becomes apparent in affected puppies between 2 and 5 months of age. Symptoms include lack of appetite, failure to thrive, weakness, vomiting, diarrhoea and possibly tremors and seizures.
Additional information
References
Pubmed ID: 30591068
Year published: 2018
Omia ID: 1786
Omia variant ID: