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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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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 2 |
| Mutation | c.8392delC |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | I-GS |
Informations générales
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, found in the Border Collie, is caused by a recessive mutation to the gene CUBN. Similar variants also occur in the Beagle and Komondor.
Caractéristiques cliniques
Affected dogs start presenting within the first few weeks to months life with poor apetite and poor weight gain. Other symptoms may include difficulty swallowing, painful sores on the tongue, chronic diarrhea, heartbeat irregularities, anemia, and chronic fatigue.
Additional Information
Références
Pubmed ID: 23613799
Year published: 2013
Omia ID: 1786
Omia variant ID: 447