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Glycogen Storage Disease VII (GSD VII)
Breed: English Springer Spaniel
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
Glycogen Storage Disease VII (GSD VII)
OMIA
421
Gene Name
PFKM
Mutation
c.550C>T
Mutation 2
c.2228G>A
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 VII: exercise intolerance, muscle cramps, occasional hemolytic crisis
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 VII: exercise intolerance, muscle cramps, occasional hemolytic crisis
Published
Inal Gultekin, G., Raj, K., Lehman, S., Hillström, A., Giger, U. : Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog. Mol Cell Probes 26:243-7, 2012. Pubmed reference: 22446493. DOI: 10.1016/j.mcp.2012.02.004.
Published 2
Smith, B.F., Stedman, H., Rajpurohit, Y., Henthorn, P.S., Wolfe, J.H., Patterson, D.F., Giger, U. : Molecular basis of canine muscle type phosphofructokinase deficiency Journal of Biological Chemistry 271:20070-20074, 1996. Pubmed reference: 8702726. ; Karen Gerber, John W. Harvey, Sara D'Agorne, Jonathan Wood, and Urs Giger. Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets. Vet Clin Pathol. 2009 March ; 38(1): 46?51. doi:10.1111/j.1939-165X.2008.00089.x
Published 3
Gerber, John W. Harvey, Sara D'Agorne, Jonathan Wood, and Urs Giger. Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets. Vet Clin Pathol. 2009 March ; 38(1): 46?51. doi:10.1111/j.1939-165X.2008.00089.x
Published 4
Smith, B.F., Stedman, H., Rajpurohit, Y., Henthorn, P.S., Wolfe, J.H., Patterson, D.F., Giger, U. : Molecular basis of canine muscle type phosphofructokinase deficiency Journal of Biological Chemistry 271:20070-20074, 1996. Pubmed reference: 8702726. ; Karen Gerber, John W. Harvey, Sara D'Agorne, Jonathan Wood, and Urs Giger. Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets. Vet Clin Pathol. 2009 March ; 38(1): 46?51. doi:10.1111/j.1939-165X.2008.00089.x
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Animal Genetics Inc
GTP
GTP Name
Animal Genetics Inc
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis VII
GTP Disease Synonym
Phosphofructokinase Deficiency
Gene Name
PFKM
Mutation
c.2228G>A
Nature of test
mutation test
FCI Number
125
GTP Breed
English Springer Spaniel
Canine Genetic Testing
GTP
GTP Name
Canine Genetic Testing
Breed
OMIA
Gene Name
PFKM
Mutation
c.2228G>A
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis VII
Gene Name
PFKM
Mutation
c.2228G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Smith, B.F., Stedman, H., Rajpurohit, Y., Henthorn, P.S., Wolfe, J.H., Patterson, D.F., Giger, U. : Molecular basis of canine muscle type phosphofructokinase deficiency Journal of Biological Chemistr
Application in the Breed
Carriers may be bred to normal animals (N/gsd7 x N/N) . Offspring should be tested before breeding. No breeding two carriers (N/gsd7 x N/gsd7) nor of affected dogs (gsd7/gsd7). Exercise intolerance, muscle cramps, occasional hemolytic crisis ( normal lifespan)
Inheritance
AR
FCI Number
125
GTP Breed
English Springer Spaniel
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis VII
GTP Disease Synonym
Phosphofructokinase Deficiency
Gene Name
PFKM
Mutation
c.2228G>A
Mutation Comment
g.6620819C>T
Nature of test
mutation test
FCI Number
125
GTP Breed
English Springer Spaniel
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis VII
Gene Name
PFKM
Mutation
c.2228G>A
GTP- or Breed-Specific Publications
Smith, B.F., Stedman, H., Rajpurohit, Y., Henthorn, P.S., Wolfe, J.H., Patterson, D.F., Giger, U. : Molecular basis of canine muscle type phosphofructokinase deficiency Journal of Biological Chemistr
Application in the Breed
Carriers may be bred to normal animals (N/gsd7 x N/N) . Offspring should be tested before breeding. No breeding two carriers (N/gsd7 x N/gsd7) nor of affected dogs (gsd7/gsd7). Exercise intolerance, muscle cramps, occasional hemolytic crisis ( normal lifespan)
The Kennel Club
GTP
GTP Name
The Kennel Club
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis VII
Gene Name
PFKM
Mutation
c.2228G>A
This test is outsourced to:
Weatherby's
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis VII
GTP Disease Synonym
Phosphofructokinase Deficiency
Gene Name
PFKM
Mutation
c.550C>T; c.2228G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Smith, B.F., Stedman, H., Rajpurohit, Y., Henthorn, P.S., Wolfe, J.H., Patterson, D.F., Giger, U. : Molecular basis of canine muscle type phosphofructokinase deficiency Journal of Biological Chemistr
Application in the Breed
Carriers may be bred to normal animals (N/gsd7 x N/N) . Offspring should be tested before breeding. No breeding two carriers (N/gsd7 x N/gsd7) nor of affected dogs (gsd7/gsd7). Exercise intolerance, muscle cramps, occasional hemolytic crisis ( normal lifespan)
Inheritance
AR
FCI Number
125
GTP Breed
English Springer Spaniel
Orthopedic Foundation for Animals
GTP
GTP Name
Orthopedic Foundation for Animals
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis VII
GTP Disease Synonym
Phosphofructokinase Deficiency
Gene Name
NECAP1
Mutation
c.2228G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Smith, B.F., Stedman, H., Rajpurohit, Y., Henthorn, P.S., Wolfe, J.H., Patterson, D.F., Giger, U. : Molecular basis of canine muscle type phosphofructokinase deficiency Journal of Biological Chemistr
Application in the Breed
Carriers may be bred to normal animals (N/gsd7 x N/N) . Offspring should be tested before breeding. No breeding two carriers (N/gsd7 x N/gsd7) nor of affected dogs (gsd7/gsd7). Exercise intolerance, muscle cramps, occasional hemolytic crisis ( normal lifespan)
Inheritance
AR
FCI Number
125
GTP Breed
English Springer Spaniel
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis VII
GTP Disease Synonym
Phosphofructokinase Deficiency
Gene Name
PFKM
Mutation
c.2228G>A
Nature of test
mutation test
FCI Number
125
GTP Breed
English Springer Spaniel
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
PFKM
Mutation
c.2228G>A
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis VII
Gene Name
PFKM
Mutation
c.2228G>A
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
TBA, Glycogenesis VII
GTP Disease Synonym
Phosphofructokinase Deficiency
Gene Name
PFKM
Mutation
c.2228G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Smith, B.F., Stedman, H., Rajpurohit, Y., Henthorn, P.S., Wolfe, J.H., Patterson, D.F., Giger, U. : Molecular basis of canine muscle type phosphofructokinase deficiency Journal of Biological Chemistr
Application in the Breed
Carriers may be bred to normal animals (N/gsd7 x N/N) . Offspring should be tested before breeding. No breeding two carriers (N/gsd7 x N/gsd7) nor of affected dogs (gsd7/gsd7). Exercise intolerance, muscle cramps, occasional hemolytic crisis ( normal lifespan)
Inheritance
AR
FCI Number
125
GTP Breed
English Springer Spaniel
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