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Hyperuricosuria and Hyperuricemia (HUU)

Breed: German shepherd dog/ Double coat

Generic Phene Data

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 in this breed

ALL

General

Disease Name
Hyperuricosuria and Hyperuricemia (HUU)
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.

Breed Specific Data

Animal Health Trust (UK)

GTP Name
Animal Health Trust (UK)
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
166
GTP Breed
German shepherd dog/ Double coat

Antagene

GTP
GTP Name
Antagene
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
166
GTP Breed
German shepherd dog/ Double coat

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
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
166
GTP Breed
German shepherd dog/ Double coat

Embark

GTP
GTP Name
Embark
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
166
GTP Breed
German shepherd dog/ Double coat

Genomia s.r.o

GTP Name
Genomia s.r.o
GTP Disease Name
urolithiasis, urate stones, uric acid secretion, hyperuricemia
Gene Name
SLC2A9
Mutation
c.G563T
Nature of test
mutation test
FCI Number
166
GTP Breed
German shepherd dog/ Double coat

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
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
166
GTP Breed
German shepherd dog/ Double coat

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
GTP Disease Name
urolithiasis, urate stones, uric acid secretion, hyperuricemia
Gene Name
SLC2A9
Mutation
c.616G>T
Nature of test
mutation test
FCI Number
166
GTP Breed
German shepherd dog/ Double coat

Paw Print Genetics

GTP Name
Paw Print Genetics
GTP Disease Name
urolithiasis, urate stones, uric acid secretion, hyperuricemia
Gene Name
SLC2A9
Mutation
c.616G>T
Nature of test
mutation test
FCI Number
166
GTP Breed
German shepherd dog/ Double coat

Veterinary Genetics Laboratory

GTP Name
Veterinary Genetics Laboratory
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
166
GTP Breed
German shepherd dog/ Double coat

VHL Genetics

GTP Name
VHL Genetics
Gene Name
SLC2A9
Mutation
c.616G>T; c.G563T

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
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
166
GTP Breed
German shepherd dog/ Double coat

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
SLC2A9
Mutation
c.616G>T; c.G563T

VetGen LLC

GTP Name
VetGen LLC
Gene Name
SLC2A9
Mutation
c.616G>T

Anicom

GTP
GTP Name
Anicom
GTP Disease Name
urolithiasis, urate stones, uric acid secretion, hyperuricemia
Gene Name
SLC2A9
Mutation
c.G563T

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
SLC2A9
Mutation
c.616G>T; c.G563T

BioBank AS

GTP Name
BioBank AS
Gene Name
SLC2A9
Mutation
c.616G>T; c.G563T

CMSCH

GTP
GTP Name
CMSCH
Gene Name
SLC2A9
Mutation
c.616G>T; c.G563T

INNO

GTP
GTP Name
INNO
Gene Name
SLC2A9
Mutation
c.616G>T; c.G563T

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
SLC2A9
Mutation
c.616G>T; c.G563T

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
SLC2A9
Mutation
c.616G>T; c.G563T

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
SLC2A9
Mutation
c.616G>T; c.G563T

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
SLC2A9
Mutation
c.616G>T; c.G563T

Independent Veterinary Laboratory POISK

GTP Name
Independent Veterinary Laboratory POISK
GTP Disease Name
urolithiasis, urate stones, uric acid secretion, hyperuricemia
Gene Name
SLC2A9
Mutation
c.G563T
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