Intestinal Cobalamin Malabsorption (ICM, IGS) – Border Collie
Kodas: H367
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, found in the Border Collie, is caused by a recessive mutation to the gene CUBN. Similar variants also occur in the Beagle and Komondor.
Specifications
| Breeds | |
|---|---|
| Gene | CUBN |
| Chromosome | 2 |
| Mutation | c.8392delC |
| Organ | Digestive System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | I-GS |
Clinical features
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.
References
Pubmed ID: 23613799
Year published: 2013
Omia ID: 1786
Omia variant ID:
Turnaround information
- 10 working days