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Mucopolysaccharidosis Type VII

General

Disease Name
Mucopolysaccharidosis Type VII
OMIA
667
Gene Name
GUSB
Mutation
c.866C>T
Mutation 2
c.559G>A
OMIM
253220
Disease Code
MPSVII
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Sly Syndrome, Mucopolysaccharidosis, MPSVII
Details
Mucopolysaccharidosis Type VII is a very severe form 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 skeletal changes and dwarfism, severe growth retardation and spontaneous death. Age of onset from birth. Most puppies / young dogs are euthanised.
Details 2
Mucopolysaccharidosis Type VII is a very severe form 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 skeletal changes and dwarfism, severe growth retardation and spontaneous death. Age of onset from birth. Most puppies / young dogs are euthanised.
Published
Ray, J., Haskins, M.E., Ray, K. : Molecular diagnostic tests for ascertainment of genotype at the mucopolysaccharidosis type VII locus in dogs American Journal of Veterinary Research 59:1092-1095, 1998. Pubmed reference: 9736382.
Published 2
Ray, J., Scarpino, V., Laing, C., Haskins, M.E. : Biochemical basis of the beta-glucuronidase gene defect causing canine mucopolysaccharidosis VII Journal of Heredity 90:119-123, 1999. Pubmed reference: 9987917.
Published 3
Hytonen, M.K., Arumilli, M., Lappalainen, A.K., Kallio, H., Snellman, M., Sainio, K., Lohi, H. : A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII. PLoS One 7:e40281, 2012. Pubmed reference: 22815736. DOI: 10.1371/journal.pone.0040281.
Body/System/Process
Metabolic
Inheritance
AR
Gene Name Text
glucuronidase, beta
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