Mucopolysaccharidosis Type VII
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 VII
Mutation
c.866C>T
Mutation 2
c.559G>A
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.