OMIA:001672-9615 : Hyperoxaluria, primary, type I (Oxalosis I) in Canis lupus familiaris (dog)

In other species: sheep

Categories: Renal / urinary system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 259900 (trait) , 604285 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

Species-specific name: familial oxalate nephropathy

Molecular basis: Exon sequencing of the candidate gene AGXT in Coton du Tulear dogs by Vidgren et al. (2012) revealed a missense mutation to be the cause of this disorder; specifically "a single base change (c.996G>A) that changed one conserved residue (p.Gly102Ser)".

Clinical features: Tibetan Spaniels with type 1 primary hyperoxaluria usually present at a young age (from 5 weeks of age) with vomiting, diarrhoea, inappetence, weight loss, poor growth, depression, polydipsia (excessive thirst), polyuria (excessive production of urine) and may have anaemia (Jansen and Arnesen, 1990). The two affected Tibetian Spaniels were emaciated and anaemic at 7- and 9-weeks of age when they were euthanised (Jansen and Arnesen, 1990). Vidgren et al. (2012) report that in Coton de Tulear puppies onset is sudden, starting at an age of 3–4 weeks and resulted in euthanasia within a week. IT thanks DVM student Jess Hanna, who provided the basis of this contribution in May 2023

Pathology: Jansen and Arnesen (1990) report end-stage kidney lesions consistent with an oxalate nephropathy in two affected Tibetan Spaniels at 7- and 9-weeks of age. Vidgren et al. (2012) reported postmortem findings in seven affected Coton de Tulear puppies: "The only significant findings were in the kidneys, which were pale with pinpoint white foci scattered in the cortex. Numerous oxalate crystals ... were present in the tubules in the renal cortex and at the corticomedullary junction. Smaller crystals were present below the tubular epithelium. Uroliths or nephrocalcinosis were not present."

Breeds: Coton de Tulear (Dog) (VBO_0200389), Tibetan Spaniel (Dog) (VBO_0201352).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
AGXT alanine-glyoxylate aminotransferase Canis lupus familiaris 25 NC_051829.1 (51163250..51171015) AGXT Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
75 Coton de Tulear (Dog) Primary hyperoxaluria type I (Oxalosis I) AGXT missense Naturally occurring variant CanFam3.1 25 g.50968854G>A c.304G>A p.(G102S) XP_003639939.1:p.Gly102Ser rs397510072 2012 22486513 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001672-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2012 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.
1991 Danpure, C.J., Jennings, P.R., Jansen, J.H. :
Enzymological characterization of a putative canine analogue of primary hyperoxaluria type 1. Biochim Biophys Acta 1096:134-8, 1991. Pubmed reference: 1672096.
1990 Jansen, J.H., Arnesen, K. :
Oxalate nephropathy in a Tibetan spaniel litter. A probable case of primary hyperoxaluria. J Comp Pathol 103:79-84, 1990. Pubmed reference: 2394849.

Edit History

  • Created by Frank Nicholas on 04 Dec 2011
  • Changed by Frank Nicholas on 04 Dec 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 24 Oct 2020
  • Changed by Imke Tammen2 on 27 May 2023