Mucopolysaccharidosis Type VI
Breed: Poodle/ toy
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
GTPs
General
Disease Name
Mucopolysaccharidosis Type VI
OMIA
666
Gene Name
ARSB
Mutation
A single missense mutation (G to A) occurring in exon V
Mutation 2
c.103_124del
Mutation Notes
A single missense mutation (G to A) was identified. This mutation, occurring in exon V
Test Type
Genetic Disease/Disorder
Details
Mucopolysaccharidosis Type VI is one of a group of eleven different genetic diseases known as the MPS disorders. The MPS disorders are all classified as lysosomal storage diseases. Signs include tremor, difficulty balancing and walking, head tilts, falling, generalized balance problems, skeletal anomalies, extreme joint laxity, growth retardation, corneal opacity, and heart murmur. The disease is progressive. Age of onset varies, but normally early adulthood. The clinical signs in the dogs have been reported to appear between 2-4 years of age. Dogs euthanized usually within 1-2 years after onset of clincial signs. May be associated with changes to coat colour, but this is unconfirmed at time of writing.
Details 2
Mucopolysaccharidosis Type VI is one of a group of eleven different genetic diseases known as the MPS disorders. The MPS disorders are all classified as lysosomal storage diseases. Signs include tremor, difficulty balancing and walking, head tilts, falling, generalized balance problems, skeletal anomalies, extreme joint laxity, growth retardation, corneal opacity, and heart murmur. The disease is progressive. Age of onset varies, but normally early adulthood. The clinical signs in the dogs have been reported to appear between 2-4 years of age. Dogs euthanized usually within 1-2 years after onset of clincial signs. May be associated with changes to coat colour, but this is unconfirmed at time of writing.
Published
Foureman, P., Berman, L., Stieger, K., Van Hoeven, M., Ellinwood, N. M., Haskins, M. E., Kirkness, E., Giger, U. : Mucopolysaccharidosis type VI in miniature pinschers: Screening for the mutation Journal of Veterinary Internal Medicine 18:408-409 (abstract), 2004.
Published 2
Jolly, R.D., Hopwood, J.J., Marshall, N.R., Jenkins, K.S., Thompson, D.J., Dittmer, K.E., Thompson, J.C., Fedele, A.O., Raj, K., Giger, U. : Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. N Z Vet J 60:183-8, 2012. Pubmed reference: 22329490. DOI: 10.1080/00480169.2011.642791.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
ARSB
Mutation
c.103_124del