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Glycogen Storage Disease Type II (GSD II)
Breed: Finnish Lapphund
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Glycogen Storage Disease Type II (GSD II)
OMIA
419
Gene Name
GAA
Mutation
c.2237G>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 II: pups vomit frequently, progressive muscle weakness and poor body condition, esophageal dilation and cardiac enlargement. Death before the age of two years.
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 II: pups vomit frequently, progressive muscle weakness and poor body condition, esophageal dilation and cardiac enlargement. Death before the age of two years.
Published
Seppala, E.H., Reuser, A.J., Lohi, H. : A nonsense mutation in the acid ?-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One 8:e56825, 2013. Pubmed reference: 23457621. DOI: 10.1371/journal.pone.0056825.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Finnish Lapphund, Swedish Lapphund
HSP Test-Specific Data
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Pompe Disease, TBA, Glycogenesis II
GTP Disease Synonym
Pompe disease
Gene Name
GAA
Mutation
c.2237G>A
Mutation Comment
g.1603730C>T
Nature of test
mutation test
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Pompe Disease, TBA, Glycogenesis II
Gene Name
GAA
Mutation
c.2237G>A
Nature of test
mutation test
FCI Number
189
GTP Breed
Finnish Lapphund
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Pompe Disease, TBA, Glycogenesis II
Gene Name
GAA
Mutation
c.2237G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Seppälä, E.H., Reuser, A.J., Lohi, H. : A nonsense mutation in the acid ?-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One 8:e56825, 2013. Pubmed reference: 2345762
Application in the Breed
Carriers may be bred to normal animals (N/gsd2 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gsd2 x N/gsd2) nor of affected dogs (gsd2/gsd2). Pups vomit frequently, progressive muscle weakness and poor body condition, esophageal dilation and cardiac enlargement. Death before the age of two years.
Inheritance
AR
FCI Number
189
GTP Breed
Finnish Lapphund
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Pompe Disease, TBA, Glycogenesis II
Gene Name
GAA
Mutation
c.2237G>A
Nature of test
mutation test
FCI Number
189
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Pompe Disease, TBA, Glycogenesis II
Gene Name
GAA
Mutation
c.2237G>A
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
189
GTP Breed
Finnish Lapphund
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Pompe Disease, TBA, Glycogenesis II
Gene Name
GAA
Mutation
c.2237G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Seppälä, E.H., Reuser, A.J., Lohi, H. : A nonsense mutation in the acid ?-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One 8:e56825, 2013. Pubmed reference: 2345762
Application in the Breed
Carriers may be bred to normal animals (N/gsd2 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gsd2 x N/gsd2) nor of affected dogs (gsd2/gsd2). Pups vomit frequently, progressive muscle weakness and poor body condition, esophageal dilation and cardiac enlargement. Death before the age of two years.
Inheritance
AR
FCI Number
189
GTP Breed
Finnish Lapphund
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Pompe Disease, TBA, Glycogenesis II
Gene Name
GAA
Mutation
c.2237G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Seppälä, E.H., Reuser, A.J., Lohi, H. : A nonsense mutation in the acid ?-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One 8:e56825, 2013. Pubmed reference: 2345762
Application in the Breed
Carriers may be bred to normal animals (N/gsd2 x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gsd2 x N/gsd2) nor of affected dogs (gsd2/gsd2). Pups vomit frequently, progressive muscle weakness and poor body condition, esophageal dilation and cardiac enlargement. Death before the age of two years.
Inheritance
AR
FCI Number
189
GTP Breed
Finnish Lapphund
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Pompe Disease, TBA, Glycogenesis II
Gene Name
GAA
Mutation
c.2237G>A
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
VHL Genetics/ Combibreed
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
GAA
Mutation
c.2237G>A
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