GM2 Gangliosidosis
Breed: Shiba
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 for these breeds
General
Disease Name
GM2 Gangliosidosis
OMIA
403
Gene Name
HEXB
Mutation
c.618-620delCCT
Test Type
Genetic Disease/Disorder
Details
Gangliosidosis is a rare metabolic disorder in dogs. It is commonly known as storage disease because dogs that suffer from it lack an enzyme in their brain that helps with the breakdown of old molecules which build up in the brain effecting the nervous system. Generalised symptoms can vary greatly between dogs but can include: lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay.
Details 2
Gangliosidosis is a lysosomal storage disease caused by beta galactosidase deficiency and characterized by progressive neurological deterioration. It is caused by breed-specific mutations. It is commonly known as storage disease because dogs that suffer from it lack an enzyme in their brain that helps with the breakdown of old molecules which build up in the brain effecting the nervous system. Generalised symptoms can vary greatly between dogs but can include: lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay.
Published
Kohyama, M., Yabuki, A., Ochiai, K., Nakamoto, Y., Uchida, K., Hasegawa, D., Takahashi, K., Kawaguchi, H., Tsuboi, M., Yamato, O. : In situ detection of GM1 and GM2 gangliosides using immunohistochemical and immunofluorescent techniques for auxiliary diagnosis of canine and feline gangliosidoses. BMC Vet Res 12:67, 2016. Pubmed reference: 27036194. DOI: 10.1186/s12917-016-0691-y.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
unpublished
Mutation
3bp deletion
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
unpublished
Mutation
3bp deletion
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
HEXB
Mutation
3bp deletion
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
unpublished
Mutation
3bp deletion
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
unpublished
Mutation
3bp deletion
Orthopedic Foundation for Animals
GTP
GTP Name
Orthopedic Foundation for Animals
Breed
OMIA
GTP Disease Name
Sandhoff
Gene Name
OCA2
Mutation
3bp deletion
Nature of test
mutation test
FCI Number
257
GTP Breed
Shiba
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
unpublished
Mutation
3bp deletion
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Sandhoff
Gene Name
unpublished
Mutation
3bp deletion
Nature of test
mutation test
FCI Number
257
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
unpublished
Mutation
3bp deletion
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
HEXB
Mutation
c.618>620delCCT
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
unpublished
Mutation
3bp deletion
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
unpublished
Mutation
3bp deletion
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
unpublished
Mutation
3bp deletion
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
unpublished
Mutation
3bp deletion