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Imerslund-Grasbeck Syndrome (I-GS), CUBN related
Breed: Beagle
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Imerslund-Grasbeck Syndrome (I-GS), CUBN related
OMIA
1786
Gene Name
CUBN
Mutation
c.786delC
Mutation 2
c.8392delC
Test Type
Genetic Disease/Disorder
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
Published 2
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Cobalamin Malabsorption - cubilin deficiency
Gene Name
CUBN
Mutation
c.786delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Fyfe, J.C., Hemker, S.L., Venta, P.J., Stebbing, B. and Giger, U. (2014), Selective Intestinal Cobalamin Malabsorption with Proteinuria (Imerslund-Gräsbeck Syndrome) in Juvenile Beagles. Journal of Ve
Application in the Breed
Carriers may be bred to normal animals (N/igs x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/igs x N/igs) nor of affected animals (igs/igs). Symptoms (12 weeks of age): failure to thrive, anorexia, neutropenia, nonregenerative anemia and homocysteinemia
Inheritance
AR
FCI Number
161
GTP Breed
Beagle
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Cobalamin Malabsorption - cubilin deficiency
Gene Name
CUBN
Mutation
c.786delC
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
CUBN
Mutation
c.786delC
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Cobalamin Malabsorption - cubilin deficiency
Gene Name
CUBN
Mutation
c.786delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Fyfe JC, Hemker SL, Venta PJ, Fitzgerald CA, Outerbridge CA, Myers SL, Giger U. (2013) An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs. Mol Genet Metab. 109(4):390-396.
Application in the Breed
Carriers may be bred to normal animals (N/igs x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/igs x N/igs) nor of affected animals (igs/igs). Symptoms (12 weeks of age): failure to thrive, anorexia, neutropenia, nonregenerative anemia and homocysteinemia
Inheritance
AR
FCI Number
161
GTP Breed
Beagle
The Kennel Club
GTP
GTP Name
The Kennel Club
Breed
OMIA
GTP Disease Name
Cobalamin Malabsorption - cubilin deficiency
Gene Name
CUBN
Mutation
c.786delC
This test is outsourced to:
Weatherby's
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Cobalamin Malabsorption - cubilin deficiency
Gene Name
CUBN
Mutation
c.786delC
Nature of test
mutation test
FCI Number
161
GTP Breed
Beagle
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Cobalamin Malabsorption - cubilin deficiency
Gene Name
CUBN
Mutation
c.8392delC; c.786delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Fyfe, J.C., Hemker, S.L., Venta, P.J., Stebbing, B. and Giger, U. (2014), Selective Intestinal Cobalamin Malabsorption with Proteinuria (Imerslund-Gräsbeck Syndrome) in Juvenile Beagles. Journal of Ve
Application in the Breed
Carriers may be bred to normal animals (N/igs x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/igs x N/igs) nor of affected animals (igs/igs). Symptoms (12 weeks of age): failure to thrive, anorexia, neutropenia, nonregenerative anemia and homocysteinemia
Inheritance
AR
FCI Number
161
GTP Breed
Beagle
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
Cobalamin Malabsorption - cubilin deficiency
Gene Name
CUBN
Mutation
c.8392delC
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Cobalamin Malabsorption - cubilin deficiency
GTP Disease Synonym
Intestinal malabsorption of cobalamin
Gene Name
CUBN
Mutation
c.786del
Mutation Comment
g.19796293del
Nature of test
mutation test
FCI Number
161
GTP Breed
Beagle
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
CUBN
Mutation
c.786delC
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Cobalamin Malabsorption - cubilin deficiency
Gene Name
CUBN
Mutation
c.786delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Fyfe, J.C., Hemker, S.L., Venta, P.J., Stebbing, B. and Giger, U. (2014), Selective Intestinal Cobalamin Malabsorption with Proteinuria (Imerslund-Gräsbeck Syndrome) in Juvenile Beagles. Journal of Ve
Application in the Breed
Carriers may be bred to normal animals (N/igs x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/igs x N/igs) nor of affected animals (igs/igs). Symptoms (12 weeks of age): failure to thrive, anorexia, neutropenia, nonregenerative anemia and homocysteinemia
Inheritance
AR
FCI Number
161
GTP Breed
Beagle
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Cobalamin Malabsorption - cubilin deficiency
Gene Name
CUBN
Mutation
c.786delC
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
161
GTP Breed
Beagle
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
Cobalamin Malabsorption - cubilin deficiency
Gene Name
CUBN
Mutation
c.786delC
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