Mucopolysaccharidosis Type IIIA
Breed: Rabbit Dachshund/ wirehaired
Generic Phene Data
Breeds
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
GTPs
General
Disease Name
Mucopolysaccharidosis Type IIIA
OMIA
1309
Gene Name
SGSH
Mutation
c.686_687insA
Mutation 2
c.737_739delCCA
Test Type
Genetic Disease/Disorder
Details
Mucopolysaccharidosis Type IIIA is one of a group of eleven different genetic diseases known as the MPS disorders, and is considered a more 'severe' form. The MPS disorders are all classified as lysosomal storage diseases. Signs include tremor, difficulty balancing and walking, head tilts, falling, generalized balance problems, rapid decline in muscle control and coordination. 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 IIIA is one of a group of eleven different genetic diseases known as the MPS disorders, and is considered a more 'severe' form. The MPS disorders are all classified as lysosomal storage diseases. Signs include tremor, difficulty balancing and walking, head tilts, falling, generalized balance problems, rapid decline in muscle control and coordination. 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
Aronovich EL, Carmichael KP, Morizono H, Koutlas IG, Deanching M, Hoganson G, Fischer A, Whitley CB: Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds. Genomics 68:80?84, 2000
Published 2
Yogalingam, G., Pollard, T., Gliddon, B., Jolly, R.D., Hopwood, J.J. :Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs Genomics 79:150-153, 2002. Pubmed reference: 11829484. DOI: 10.1006/geno.2002.6699.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
SGSH
Mutation
c.740_742delCCA
Mutation Comment
g.1544376_1544378delCCA