Mucopolysaccharidosis Type I
            Breed: Shar Pei
        
        
        
        
    
        
            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
            
        
         Donate
                Donate