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Glycogen Storage Disease Type II (GSD II)

Breed: Swedish Lapphund

Generic Phene Data

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 Type II (GSD II)
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.

Breed Specific Info

Researched Breeds
Finnish Lapphund, Swedish Lapphund

Breed Specific Data

Antagene

GTP
GTP Name
Antagene
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
135
GTP Breed
Swedish Lapphund

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
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
135
GTP Breed
Swedish Lapphund

Embark

GTP
GTP Name
Embark
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
135
GTP Breed
Swedish Lapphund

EVG Diagnostics

GTP Name
EVG Molecular Diagnostics
Gene Name
GAA
Mutation
c.2237G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
PLoS One. 2013; 8(2): e56825.

Genomia s.r.o

GTP Name
Genomia s.r.o
GTP Disease Name
Pompe Disease, TBA, Glycogenesis II
GTP Disease Synonym
Pompe disease
Gene Name
GAA
Mutation
c.2237G>A
Nature of test
mutation test

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
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
135
GTP Breed
Swedish Lapphund

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
GTP Disease Name
Pompe Disease, TBA, Glycogenesis II
Gene Name
GAA
Mutation
c.2237G>A
Nature of test
mutation test
FCI Number
135

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
GTP Disease Name
Pompe Disease, TBA, Glycogenesis II
Gene Name
GAA
Mutation
c.2237G>A
Nature of test
mutation test
FCI Number
135
GTP Breed
Swedish Lapphund

VHL Genetics

GTP Name
VHL Genetics
Gene Name
GAA
Mutation
c.2237G>A

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
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
135
GTP Breed
Swedish Lapphund

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
GAA
Mutation
c.2237G>A

DNA My Dog

GTP Name
DNA My Dog
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
135
GTP Breed
Swedish Lapphund

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
GAA
Mutation
c.2237G>A

BioBank AS

GTP Name
BioBank AS
Gene Name
GAA
Mutation
c.2237G>A

CMSCH

GTP
GTP Name
CMSCH
Gene Name
GAA
Mutation
c.2237G>A

INNO

GTP
GTP Name
INNO
Gene Name
GAA
Mutation
c.2237G>A

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
GAA
Mutation
c.2237G>A

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
GAA
Mutation
c.2237G>A

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
GAA
Mutation
c.2237G>A

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
GAA
Mutation
c.2237G>A
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