OMIA:001672-9615 : Hyperoxaluria, primary, type I (Oxalosis I) in Canis lupus familiaris (dog) |
In other species: sheep
Categories: Renal / urinary system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 259900 (trait) , 604285 (gene)
Links to MONDO diseases:
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,
Tibetan Spaniel.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
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 |
Variants
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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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 75 | Coton de Tulear | 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 | 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]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
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