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H367

Imerslund-Gräsbeck Syndrome (IGS), also known as Selective Intestinal Cobalamin Malabsorption, is a disorder in which the intestines fail to absorb enough Vitamin B12.

10 working days

Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

Imerslund-Gräsbeck Syndrome (IGS), also known as Selective Intestinal Cobalamin Malabsorption, 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

Omia ID: 1786

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