Mucopolysaccharidosis Type IIIA
Breed: New Zealand Huntaway dog
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
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
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
SGSH
Mutation
c.686_687insA
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
SGSH
Mutation
c.686_687insA
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
SGSH
Mutation
c.686_687insA
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
SGSH
Mutation
c.686_687insA
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Sly Syndrome, Mucopolysaccharidosis, MPSIIIA
GTP Disease Synonym
Mucopolysaccharidosis Type IIIA
Gene Name
SGSH
Mutation
c.686_687insA
Nature of test
mutation test
GTP- or Breed-Specific Publications
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. Pubme
Application in the Breed
Carriers may be bred to normal animals (N/mps3a x N/N) .Offspring should be tested before breeding . No breeding of two carriers (N/mps3a x N/mps3a) nor of affected animals (mps3a/mps3a)Decline in muscle control and coordination, and must be humanely euthanized due to disease progression
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
#VALUE!
GTP Breed
New Zealand Huntaway dog
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
SGSH
Mutation
c.686_687insA
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
SGSH
Mutation
c.686_687insA
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Sly Syndrome, Mucopolysaccharidosis, MPSIIIA
GTP Disease Synonym
Mucopolysaccharidosis Type IIIA
Gene Name
SGSH
Mutation
c.686_687insA
Nature of test
mutation test
GTP- or Breed-Specific Publications
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. Pubme
Application in the Breed
Carriers may be bred to normal animals (N/mps3a x N/N) .Offspring should be tested before breeding . No breeding of two carriers (N/mps3a x N/mps3a) nor of affected animals (mps3a/mps3a)Decline in muscle control and coordination, and must be humanely euthanized due to disease progression
Inheritance
AR
FCI Number
-53
GTP Breed
New Zealand Huntaway dog
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Sly Syndrome, Mucopolysaccharidosis, MPSIIIA
GTP Disease Synonym
Sanfillipo A, Mucopolysaccharidosis
Gene Name
SGSH
Mutation
c.686_687insA
Nature of test
mutation test
FCI Number
-53
GTP Breed
New Zealand Huntaway dog
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
SGSH
Mutation
c.686_687insA
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
SGSH
Mutation
c.686_687insA
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
SGSH
Mutation
c.686_687insA
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Sly Syndrome, Mucopolysaccharidosis, MPSIIIA
GTP Disease Synonym
Mucopolysaccharidosis Type IIIA
Gene Name
SGSH
Mutation
c.686_687insA
Nature of test
mutation test
GTP- or Breed-Specific Publications
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. Pubme
Application in the Breed
Carriers may be bred to normal animals (N/mps3a x N/N) .Offspring should be tested before breeding . No breeding of two carriers (N/mps3a x N/mps3a) nor of affected animals (mps3a/mps3a)Decline in muscle control and coordination, and must be humanely euthanized due to disease progression
Inheritance
AR
FCI Number
-53
GTP Breed
New Zealand Huntaway dog
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
SGSH
Mutation
c.686_687insA
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA