Donate
GM2 Gangliosidosis (Var 0)
Breed: Poodle/ toy
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
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
GM2 Gangliosidosis (Var 0)
OMIA
1462
Gene Name
HEXB
Mutation
c.283delG
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. Specific to GM2-0: tremors, vision loss, vomiting and balance loss ( 9-12 months of age) - death at 18-23 months of age
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. Specific to GM2-0: tremors, vision loss, vomiting and balance loss ( 9-12 months of age) - death at 18-23 months of age
Published
Rahman, M.M., Chang, H.S., Mizukami, K., Hossain, M.A., Yabuki, A., Tamura, S., Kitagawa, M., Mitani, S., Higo, T., Uddin, M.M., Uchida, K., Yamato, O. : A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). Vet J :, 2012. Pubmed reference: 22766310. DOI: 10.1016/j.tvjl.2012.05.021.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Golden Retriever, Shiba-Inu, Toy Poodle
HSP Test-Specific Data
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Tay Sachs Disease
Gene Name
HEXB
Mutation
c.283delG
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
172
GTP Breed
Toy Poodle
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
HEXB
Mutation
c.283delG
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Sandhoff disease
GTP Disease Synonym
GM2
Gene Name
HEXB
Mutation
c.391del
Mutation Comment
g.57225684del
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Tay Sachs Disease
Gene Name
HEXB
Mutation
c.283delG
Nature of test
mutation test
FCI Number
172
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Tay Sachs Disease
Gene Name
HEXB
Mutation
c.283delG
Nature of test
mutation test
FCI Number
172
GTP Breed
Toy Poodle
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Tay Sachs Disease
Gene Name
HEXB
Mutation
c.283delG
Nature of test
mutation test
FCI Number
172
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Tay Sachs Disease
GTP Disease Synonym
GM2 Gangliosidosis (Var 0)
Gene Name
HEXB
Mutation
c.283delG
Nature of test
mutation test
GTP- or Breed-Specific Publications
Rahman, M.M., Chang, H.S., Mizukami, K., Hossain, M.A., Yabuki, A., Tamura, S., Kitagawa, M., Mitani, S., Higo, T., Uddin, M.M., Uchida, K., Yamato, O. : A frameshift mutation in the canine HEXB gene
Application in the Breed
Carriers may be bred to normal animals (N/gm2g x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gm2g x N/gm2g ) nor of affected animals (gm2g/gm2g). Tremors, vision loss, vomiting and balance loss ( 9-12 months of age) - death at 18-23 months of age
Inheritance
AR
FCI Number
172
GTP Breed
Toy Poodle
-
HGTD Quick Search
-
The portal for Genetic Testing Providers (labs); genetic tests, and tests by breed: as well as information on quality indicators and genetic counseling resources.
GOAL: Robust genetic testing supporting health improvements & a sustainable future for healthy dogs. -
HGTD Database Resources
How to use the HGTD
Using HGTD - YouTube Videos
HGTD Quality Indicators
Acronyms - Mode of Inheritance♦ 2020-New What is a Relevance Rating?
FAQs
Answers to frequently asked questions about the HGTD
Accreditation Basics
This brief overview may help you identify what types of accreditation are important to you, when choosing your genetic test provider.
Accreditation and Industry Standards
List of organizations throughout the world that are involved in matters of accreditation and establishing industry standards.
Choosing a Genetic Test Provider
Choosing a genetic test provider can be daunting. This short article helps you to consider what is important to you, and your dogs, in finding the right test provider for you. -
The HGTD's genetic counselling resources index provides access to basic introductory articles on genetics, articles on application of genetics in breed health management, and advanced work in technical genetics research. Breed-specific information is also available in our Pedigreed Dogs Database.
