Hyperuricosuria and Hyperuricemia (HUU)
            Breed: Miniature American Shepherd
        
        
        
        
    Generic Phene Data
        
            Breeds
        
    
    
                
                Relevance Rating: There is strong evidence or research available  for these breeds 
                
            
            
            
                
                Relevance Rating: There is moderate evidence or research available  for these 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
        
    
    
            Hyperuricosuria and Hyperuricemia (HUU)
            
        
        
        
            OMIA
        
    
    
            1033
            
        
        
        
            Gene Name
        
    
    
            SLC2A9
            
        
        
        
            Mutation
        
    
    
            c.616G>T
            
        
        
        
            Mutation 2
        
    
    
            c.G563T
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            Hyperuricosuria (HUU) describes elevated levels of uric acid in the urine causing the formation of calculi (stones) in the urinary tract. These stones form in the bladders or sometimes kidneys, requiring surgical removal, and can be difficult to treat. HUU can occur in any breed but is most commonly associated with the Dalmatian, as Dalmatians are homozygous for HUU (HU/HU). Outcrossing programs have introduced ?low uric acid? dogs, derived from Dalmatian x Pointer backcrosses, into the purebred gene pool, providing a means for breeders to reduce incidence of the disease and maintain the breed characteristics. This mutation is not the sole cause of urate bladder stones in dogs, so may not account for other causes of stones, such as liver disease and diet.
            
        
        
        
            Details 2
        
    
    
            Hyperuricosuria (HUU) describes elevated levels of uric acid in the urine, resulting in urolithiasis, the formation of calculi (stones) in the urinary tract. These stones form in their bladders or sometimes kidneys, requiring surgical removal. These stones can be difficult to treat. HUU can occur in any breed but is most commonly associated with the Dalmatian, as Dalmatians are homozygous for HUU (HU/HU). Outcrossing programs have introduced ?low uric acid? dogs, derived from Dalmatian x Pointer backcrosses, into the purebred gene pool, providing a means for breeders to reduce incidence of the disease and maintain the breed characteristics. This mutation is not the sole cause of urate bladder stones in dogs, so may not account for other causes of stones, such as liver disease and diet.
            
        
        
        
            Published
        
    
    
            Bannasch, D., Safra, N., Young, A., Karmi, N., Schaible, RS., Ling, GV. : Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. PLoS Genet 4:e1000246, 2008. Pubmed reference: 18989453. DOI: 10.1371/journal.pgen.1000246.
            
        
        
        
            Published 2
        
    
    
            Bannasch, D., Young, A., Myers, J., Truve, K., Dickinson, P., Gregg, J., Davis, R., Bongcam-Rudloff, E., Webster, M.T., Lindblad-Toh, K., Pedersen, N. : Localization of canine brachycephaly using an across breed mapping approach. PLoS One 5:e9632, 2010. Pubmed reference: 20224736. DOI: 10.1371/journal.pone.0009632.
            
        
        
        
            Body/System/Process
        
    
    
            Renal
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AR
            
        
        Breed Specific Info
        
            Researched Breeds
        
    
    
            Dalmatian
            
        
        
        
            Breed-specific 1
        
    
    
            Hungarian wirehaired pointer/ Drötzörü Magyar Vizsla
            
        
        
        
            Breed-specific 2
        
    
    
            Current best evidence, supported by peer-reviewed research in related breeds, indicates that the use of this test is likely to be relevant in the breed. Clinical cases, associated with affected genetic test results for this mutation have been described in more than one country. The test has been in use, with positive results, by breeder in the UK since 2010. Screening is part of UK testing practices in the UK since 2017.
            
        
        HSP Test-Specific Data
DNA My Dog
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            DNA My Dog
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            urolithiasis, urate stones, uric acid secretion, hyperuricemia
            
        
        
        
            Gene Name
        
    
    
            SLC2A9
            
        
        
        
            Mutation
        
    
    
            c.616G>T
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            GTP- or Breed-Specific Publications
        
    
    
            Bannasch, D., Young, A., Myers, J., Truv??, K., Dickinson, P., Gregg, J., Davis, R., Bongcam-Rudloff, E., Webster, M.T., Lindblad-Toh, K., Pedersen, N. : Localization of canine brachycephaly using an
            
        
        
        
            Application in the Breed
        
    
    
            Carriers can be bred to normal animals (N/huu x N/N). Offspring should be tested before breeding. No breeding two carriers (N/huu x N/huu) nor of affected animals (huu/huu). Excrete uric acid in the urine, resulting in urolithiasis, the formation of calculi (stones) in the urinary tract.
            
        
        
        
            Inheritance
        
    
    
            AR
            
        
        
        
            This test is outsourced to:
        
    
    
            Orivet
            
        
        
        
            FCI Number
        
    
    
            -50
            
        
        
        
            GTP Breed
        
    
    
            Miniature American Shepherd
            
        
        Orivet Genetic Pet Care
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Orivet Genetic Pet Care
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            urolithiasis, urate stones, uric acid secretion, hyperuricemia
            
        
        
        
            Gene Name
        
    
    
            SLC2A9
            
        
        
        
            Mutation
        
    
    
            c.616G>T
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            GTP- or Breed-Specific Publications
        
    
    
            Bannasch, D., Young, A., Myers, J., Truv??, K., Dickinson, P., Gregg, J., Davis, R., Bongcam-Rudloff, E., Webster, M.T., Lindblad-Toh, K., Pedersen, N. : Localization of canine brachycephaly using an
            
        
        
        
            Application in the Breed
        
    
    
            Carriers can be bred to normal animals (N/huu x N/N). Offspring should be tested before breeding. No breeding two carriers (N/huu x N/huu) nor of affected animals (huu/huu). Excrete uric acid in the urine, resulting in urolithiasis, the formation of calculi (stones) in the urinary tract.
            
        
        
        
            Inheritance
        
    
    
            AR
            
        
        
        
            FCI Number
        
    
    
            -50
            
        
        
        
            GTP Breed
        
    
    
            Miniature American Shepherd
            
        
        Paw Print Genetics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Paw Print Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            urolithiasis, urate stones, uric acid secretion, hyperuricemia
            
        
        
        
            Gene Name
        
    
    
            SLC2A9
            
        
        
        
            Mutation
        
    
    
            c.616G>T
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            FCI Number
        
    
    
            -50
            
        
        Wisdom Panel - Kinship
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Wisdom Panel - Kinship
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            urolithiasis, urate stones, uric acid secretion, hyperuricemia
            
        
        
        
            Gene Name
        
    
    
            SLC2A9
            
        
        
        
            Mutation
        
    
    
            c.616G>T
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            GTP- or Breed-Specific Publications
        
    
    
            Bannasch, D., Young, A., Myers, J., Truv??, K., Dickinson, P., Gregg, J., Davis, R., Bongcam-Rudloff, E., Webster, M.T., Lindblad-Toh, K., Pedersen, N. : Localization of canine brachycephaly using an
            
        
        
        
            Application in the Breed
        
    
    
            Carriers can be bred to normal animals (N/huu x N/N). Offspring should be tested before breeding. No breeding two carriers (N/huu x N/huu) nor of affected animals (huu/huu). Excrete uric acid in the urine, resulting in urolithiasis, the formation of calculi (stones) in the urinary tract.
            
        
        
        
            Inheritance
        
    
    
            AR
            
        
        
        
            FCI Number
        
    
    
            -50
            
        
        
        
            GTP Breed
        
    
    
            Miniature American Shepherd
            
        
         Donate
                Donate