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Hyperuricosuria and Hyperuricemia (HUU)
Breed: Pont-Audemer Spaniel
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
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
SLC2A9
Mutation
c.616G>T
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
urolithiasis, urate stones, uric acid secretion, hyperuricemia
Gene Name
SLC2A9
Mutation
c.616G>T
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
SLC2A9
Mutation
c.616G>T
Certagen GmbH
GTP
GTP Name
Factor VII Deficiency
Breed
OMIA
Gene Name
SLC2A9
Mutation
c.616G>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
SLC2A9
Mutation
c.616G>T
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
114
GTP Breed
Pont-Audemer Spaniel
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
SLC2A9
Mutation
c.616G>T
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
SLC2A9
Mutation
c.616G>T
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
114
GTP Breed
Pont-Audemer Spaniel
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
SLC2A9
Mutation
c.616G>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
SLC2A9
Mutation
c.616G>T
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
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, N Safra, A Young, N Karmi, RS Schaible and GV Ling (2008) Mutations in the SLC2A9 Gene Cause Hyperuricosuria and Hyperuricemia in the Dog. PLoS Genetics 4(11): e1000246. doi:10.1371/journal.pgen.1000246
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
114
GTP Breed
Pont-Audemer Spaniel
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
SLC2A9
Mutation
c.616G>T
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
114
GTP Breed
Pont-Audemer Spaniel
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
SLC2A9
Mutation
c.616G>T
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