DonateSearch Term: Imerslund-Grasbeck Syndrome (I-GS), AMN-related
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Disease Name
Imerslund-Grasbeck Syndrome (I-GS), AMN-related
Disease Name 2
Intestinal Cobalamin Malabsorption, AMN-related
OMIA
565
Gene Name
AMN
Mutation
c.1113_1145del
Mutation 2
c.3G>A
OMIM
261100
Disease Code
IGS
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
He, Q., Madsen, M., Kilkenney, A., Gregory, B., Christensen, E.I., Vorum, H., Hojrup, P., Schaffer, A.A., Kirkness, E.F., Tanner, S.M., de la Chapelle, A., Giger, U., Moestrup, S.K., Fyfe, J.C. : Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo. Blood 106:1447-53, 2005. Pubmed reference: 15845892. DOI: 10.1182/blood-2005-03-1197.
Published 2
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
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Gene Name Text
amnion associated transmembrane protein
Researched Breeds
Australian Shepherd, Giant Schnauzer, Hungarian Komondor
GTPs
St. Kilda, Victoria
AU
AU
Spokane, Washington
US
US
Paw Print Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-participant Other Recognized Accreditation Subsidiary Company
Wageningen
NL
NL
VHL Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Out Sourced Testing-
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