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Mucopolysaccharidosis Type I

Breed: German shepherd dog/ Double coat

Generic Phene Data

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
OMIM
607016
Disease Code
MPSI
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Sly Syndrome, Mucopolysaccharidosis, MPSI
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
Inheritance
AR
Gene Name Text
iduronidase, alpha-L-

Breed Specific Data

Laboklin Gmbh & Co. KG

Link to GTP
GTP Disease Name
Sly Syndrome, Mucopolysaccharidosis, MPSI
GTP Disease Synonym
MPS VII
Gene Name
GUSB
Mutation
c.559G>A
Nature of test
mutation test

Paw Print Genetics

Link to GTP
GTP Disease Name
Sly Syndrome, Mucopolysaccharidosis, MPSI
GTP Disease Synonym
MPS VII
Gene Name
GUSB
Mutation
c.559G>A
Nature of test
mutation test

VHL Genetics

Link to GTP
GTP Disease Name
Sly Syndrome, Mucopolysaccharidosis, MPSI
GTP Disease Synonym
MPS VII
Gene Name
GUSB
Mutation
c.559G>A
Nature of test
mutation test
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