Primary Hyperoxaluria
Breed: Coton de Tulear
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Primary Hyperoxaluria
OMIA
1672
Gene Name
AGXT
Mutation
c.996G>A
Test Type
Genetic Disease/Disorder
Details
Primary hyperoxaluria (PH) is a rare disorder of glyoxylate metabolism. Oxalate crystals form in the kidney causing sudden illness and death in 3-4 week old pups, and possibly neonates.
Details 2
Primary hyperoxaluria (PH) is a rare autosomal recessive disorder of glyoxylate metabolism in humans. It is characterized by the accumulation of oxalate and subsequent precipitation of calcium oxalate crystals, primarily in the kidneys. Deficiencies in glyoxylate-metabolizing enzymes alanine-glyoxylate aminotransferase (AGXT) or glyoxylate reductase/hydroxypyruvate reductase (GRHPR) occur in 95% of PH cases...This preliminary study reports PH as a cause of neonatal death in Finnish Coton de Tulear and suggests that genetic testing of dogs be carried out before breeding to prevent the birth of affected offspring. (Vidgren et al, 2012)
Published
Vidgren, G., Vainio-Siukola, K., Honkasalo, S., Dillard, K., Anttila, M., Vauhkonen, H. : Primary hyperoxaluria in Coton de Tulear. Anim Genet 43:356-61, 2012. Pubmed reference: 22486513. DOI: 10.1111/j.1365-2052.2011.02260.x.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Coton de Tulear
HSP Test-Specific Data
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
primary hyperoxaluria type I, Oxalosis I
Gene Name
AGXT
Mutation
c.996G>A
Nature of test
mutation test
FCI Number
283
GTP Breed
Coton de Tulear
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
AGXT
Mutation
c.996G>A
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
AGXT
Mutation
c.996G>A
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
primary hyperoxaluria type I, Oxalosis I
Gene Name
AGXT
Mutation
c.996G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Vidgren, G., Vainio-Siukola, K., Honkasalo, S., Dillard, K., Anttila, M., Vauhkonen, H. : Primary hyperoxaluria in Coton de Tulear. Anim Genet 43:356-61, 2012. Pubmed reference: 22486513. DOI: 10.1111
Application in the Breed
Carriers may be bred to normal animals (N/ph x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/ph x N/ph). Oxalate crystals form in the kidney - sudden illness & death in 3-4 week old pups
Inheritance
AR
FCI Number
283
GTP Breed
Coton de Tulear
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
AGXT
Mutation
c.996G>A
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
AGXT
Mutation
c.996G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
AGXT
Mutation
c.996G>A
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
AGXT
Mutation
c.996G>A
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
primary hyperoxaluria type I, Oxalosis I
GTP Disease Synonym
Oxalosis I
Gene Name
AGXT
Mutation
c.304G>A
Mutation Comment
g.50968854G>A
Nature of test
mutation test
FCI Number
283
GTP Breed
Coton de Tulear
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
AGXT
Mutation
c.996G>A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
AGXT
Mutation
c.996G>A
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
AGXT
Mutation
c.996G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
AGXT
Mutation
c.996G>A
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
primary hyperoxaluria type I, Oxalosis I
Gene Name
AGXT
Mutation
c.996G>A
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
AGXT
Mutation
c.996G>A
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
AGXT
Mutation
c.996G>A
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA