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Imerslund-Grasbeck Syndrome (I-GS), CUBN related

General

Disease Name
Imerslund-Grasbeck Syndrome (I-GS), CUBN related
Disease Name 2
Intestinal Cobalamin Malabsorption, CUBN-related
OMIA
1786
Gene Name
CUBN
Mutation
c.786delC
Mutation 2
c.8392delC
OMIM
261100
Disease Code
IGS
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Cobalamin Malabsorption - cubilin deficiency
Details
Imerslund?Gräsbeck syndrome is an autosomal recessive disorder of dogs which can present as a medical emergency. Symptoms include: failure to thrive, anorexia, low white blood cells, anemia, defective blood formation, decreased immunity, vitamin B12 deficiency, metabolic disorders, excess ammonia in the blood, and protein in urine. Age of onset from 12 weeks. Awareness of the disorder and breed predispositions to I?GS is crucial to precisely diagnose and promptly treat.
Details 2
Selective intestinal cobalamin malabsorption with mild proteinuria (Imerslund?Gräsbeck syndrome; I?GS), is an autosomal recessive disorder of dogs caused by mutations in AMN or CUBN that disrupt cubam function and which can present as a medical emergency... Juvenile?affected... exhibited failure to thrive, dyshematopoiesis with neutropenia, serum cobalamin deficiency, methylmalonic aciduria, hyperammonemia, and proteinuria. Affected dogs' kidneys lacked detectable cubilin protein... Awareness of the disorder and breed predispositions to I?GS is crucial to precisely diagnose and promptly treat hereditary cobalamin malabsorption and to prevent disease in those dogs at risk in future generations. (Fyfe et al, 2014)
Published
Fyfe, J. C., Hemker, S. L., Venta, P. J., Stebbing, B., & Giger, U. (2014). Selective Intestinal Cobalamin Malabsorption with Proteinuria (Imerslund?Gräsbeck Syndrome) in Juvenile Beagles. Journal of Veterinary Internal Medicine, 28(2), 356–362. http://doi.org/10.1111/jvim.12284
Published 2
Fyfe, John C., et al. "An exon 53 frameshift mutation in< i> CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs." Molecular genetics and metabolism 109.4 (2013): 390-396., Citation: Owczarek-Lipska M, Jagannathan V, Dro¨gemu¨ ller C, Lutz S, Glanemann B, et al. (2013) A Frameshift Mutation in the Cubilin Gene (CUBN) in Border Collies with Imerslund-Gra¨sbeck Syndrome (Selective Cobalamin Malabsorption). PLoS ONE 8(4): e61144. doi:10.1371/journal.pone.0061144
Body/System/Process
Metabolic
Inheritance
AR
Gene Name Text
cubilin (intrinsic factor-cobalamin receptor)
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