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Glycogen Storage Disease Type III (GSD III)
Breed: Curly Coated Retriever
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
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 in this breed
General
Disease Name
Glycogen Storage Disease Type III (GSD III)
OMIA
1577
Gene Name
AGL
Mutation
c.4223delA
Test Type
Genetic Disease/Disorder
Details
Glycogen Storage Disease alters the enzyme glucose-6-phosphatase, a key step in the production of glucose, to be deficient. This leads to chronic low blood sugar, liver damage and premature death. Generalised symptoms of Glycogen Storage Disease in dogs includes weakness, chronic low blood sugar, collapse, lethargy, enlarged, liver anorexia. Age of onset from birth/puppyhood. Specific to Type III: lethargy, exercise intolerance and collapse ( 14 months of age)
Details 2
Glycogen Storage Disease alters the enzyme glucose-6-phosphatase, a key step in the production of glucose, to be deficient. This leads to chronic low blood sugar, liver damage and premature death. Generalised symptoms of Glycogen Storage Disease in dogs includes weakness, chronic low blood sugar, collapse, lethargy, enlarged, liver anorexia. Age of onset from birth/puppyhood. Specific to Type III: lethargy, exercise intolerance and collapse ( 14 months of age)
Published
Gregory, BL., Shelton, GD., Bali, DS., Chen, YT., Fyfe, JC. :Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med 21:40-6, 2007. Pubmed reference: 17338148.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis III
GTP Disease Synonym
Glycogen Storage Disease Type IIIa
Gene Name
AGL
Mutation
c.4223delA
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis III
GTP Disease Synonym
Glycogen Storage Disease Type III (GSD III)
Gene Name
AGL
Mutation
c.4223delA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gregory, BL., Shelton, GD., Bali, DS., Chen, YT., Fyfe, JC. :Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med 21:40-6, 2007. Pubmed reference: 17338148.
Application in the Breed
Carriers may be bred to normal animals (N/gsd3 x N/N) . Offspring should be tested before breeding .No breeding of two carriers (N/gsd3 x N/gsd3) nor of affected dogs (gsd3/gsd3). Lethargy, exercise intolerance and collapse ( 14 months of age)
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
110
GTP Breed
Curly Coated Retrievers
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis III
GTP Disease Synonym
Glycogen Storage Disease Type III (GSD III)
Gene Name
AGL
Mutation
c.4223delA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gregory, BL., Shelton, GD., Bali, DS., Chen, YT., Fyfe, JC. :Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med 21:40-6, 2007. Pubmed reference: 17338148.
Application in the Breed
Carriers may be bred to normal animals (N/gsd3 x N/N) . Offspring should be tested before breeding .No breeding of two carriers (N/gsd3 x N/gsd3) nor of affected dogs (gsd3/gsd3). Lethargy, exercise intolerance and collapse ( 14 months of age)
Inheritance
AR
FCI Number
110
GTP Breed
Curly Coated Retrievers
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
AGL
Mutation
c.4223delA
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis III
GTP Disease Synonym
Glycogen storage disease IIIa
Gene Name
AGL
Mutation
c.4223del
Mutation Comment
g.50050457del
Nature of test
mutation test
FCI Number
110
GTP Breed
Curly Coated Retriever
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis III
GTP Disease Synonym
Glycogen Storage Disease Type IIIa
Gene Name
AGL
Mutation
c.4223delA
Nature of test
mutation test
FCI Number
110
GTP Breed
Curly Coated Retriever
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis III
GTP Disease Synonym
Glycogen Storage Disease Type III (GSD III)
Gene Name
AGL
Mutation
c.4223delA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gregory, BL., Shelton, GD., Bali, DS., Chen, YT., Fyfe, JC. :Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med 21:40-6, 2007. Pubmed reference: 17338148.
Application in the Breed
Carriers may be bred to normal animals (N/gsd3 x N/N) . Offspring should be tested before breeding .No breeding of two carriers (N/gsd3 x N/gsd3) nor of affected dogs (gsd3/gsd3). Lethargy, exercise intolerance and collapse ( 14 months of age)
Inheritance
AR
FCI Number
110
GTP Breed
Curly Coated Retrievers
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis III
GTP Disease Synonym
Glycogen Storage Disease Type IIIa
Gene Name
AGL
Mutation
c.4223delA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gregory, BL., Shelton, GD., Bali, DS., Chen, YT., Fyfe, JC. :Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med 21:40-6, 2007. Pubmed reference: 17338148.
Application in the Breed
Carriers may be bred to normal animals (N/gsd3 x N/N) . Offspring should be tested before breeding .No breeding of two carriers (N/gsd3 x N/gsd3) nor of affected dogs (gsd3/gsd3). Lethargy, exercise intolerance and collapse ( 14 months of age)
Inheritance
AR
FCI Number
110
GTP Breed
Curly Coated Retriever
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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