Intestinal Cobalamin Malabsorption (ICM, IGS) – Komondor
Kodas: H955
Short description
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.
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.
Specifications
| Breeds | |
|---|---|
| Gene | CUBN |
| Chromosome | 2 |
| Mutation | c.8746+1G>A |
| Organ | Digestive System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | I-GS |
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.
References
Pubmed ID: 30591068
Year published: 2018
Omia ID: 1786
Omia variant ID:
Turnaround information
- 10 working days