Mucopolysaccharidosis Type I
Breed: German Shepherd Dog/ Double coat
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
Mucopolysaccharidosis Type I
OMIA
664
Gene Name
IDUA
Gene Name 2
GUSB
Mutation
c.155+1G>A
Mutation 2
c.866C>T
Mutation 3
c.559G>A
Mutation 4
c.155+1G>A
Test Type
Genetic Disease/Disorder
Details
Mucopolysaccharidosis Type I 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, growth retardation, corneal clouding leading to visual impairment, and lameness. 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 I 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, growth retardation, corneal clouding leading to visual impairment, and lameness. 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
Menon, K.P., Tieu, P.T., Neufeld, E.F. : Architecture of the Canine IDUA Gene and Mutation Underlying Canine Mucopolysaccharidosis-I Genomics 14:763-768, 1992. Pubmed reference: 1339393
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Sly Syndrome, Mucopolysaccharidosis, MPSI
GTP Disease Synonym
MPS VII
Gene Name
GUSB
Mutation
c.559G>A
Nature of test
mutation test
FCI Number
166
GTP Breed
German shepherd dog/ Double coat
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Sly Syndrome, Mucopolysaccharidosis, MPSI
GTP Disease Synonym
MPS VII
Gene Name
GUSB
Mutation
c.559G>A
Nature of test
mutation test
FCI Number
166
GTP Breed
German shepherd dog/ Double coat