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Imerslund-Grasbeck Syndrome (I-GS), AMN-related
Breed: Australian Shepherd
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Imerslund-Grasbeck Syndrome (I-GS), AMN-related
OMIA
565
Gene Name
AMN
Mutation
c.1113_1145del
Mutation 2
c.3G>A
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
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
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Australian Shepherd, Giant Schnauzer, Hungarian Komondor
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
AMN
Mutation
c.3G>A
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
AMN
Mutation
c.3G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
AMN
Mutation
c.3G>A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
AMN
Mutation
c.3G>A
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Cobalamin Malabsorption - cubilin deficiency
Gene Name
AMN
Mutation
c.3G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
He, Q., Madsen, M., Kilkenney, A., Gregory, B., Christensen, E.I., Vorum, H., H??jrup, P., Schäffer, A.A., Kirkness, E.F., Tanner, S.M., de la Chapelle, A., Giger, U., Moestrup, S.K., Fyfe, J.C. :Amnio
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
This test is outsourced to:
Orivet
FCI Number
342
GTP Breed
Australian Shepherd
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
AMN
Mutation
c.3G>A
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
AMN
Mutation
c.3G>A
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Cobalamin Malabsorption - cubilin deficiency
Gene Name
AMN
Mutation
c.3G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
He, Q., Madsen, M., Kilkenney, A., Gregory, B., Christensen, E.I., Vorum, H., H??jrup, P., Schäffer, A.A., Kirkness, E.F., Tanner, S.M., de la Chapelle, A., Giger, U., Moestrup, S.K., Fyfe, J.C. :Amnio
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
342
GTP Breed
Australian Shepherd
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Intestinal Cobalamin Malabsorption(Australian Shepard Type)
Gene Name
AMN
Mutation
c.3G>A
Nature of test
mutation test
Inheritance
AR
FCI Number
342
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
AMN
Mutation
c.3G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
AMN
Mutation
c.3G>A
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
AMN
Mutation
c.3G>A
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
AMN
Mutation
c.3G>A
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
AMN
Mutation
c.3G>A
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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