--- license: permission_granted topic_id: companion_breed_health_tibetan_spaniel_familial_oxalate_nephropathy_dog category: companion-breed-health title: "Tibetan Spaniel — familial oxalate nephropathy (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/tibetan_spaniel_familial_oxalate_nephropathy_3301.txt date_parsed: 2026-08-02 tokens_estimated: 375 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_tibetan_spaniel_familial_oxalate_nephropathy_dog/01_companion_breed_health_tibetan_spaniel_familial_oxalate_nephropathy_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Tibetan Spaniel — familial oxalate nephropathy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001672/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Tibetan Spaniel — familial oxalate nephropathy (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Tibetan Spaniel (Dog)Disorder: familial oxalate nephropathyMode of inheritance: Autosomal recessiveClin feat: 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 2023Defect: yesPathology: 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.
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 389508874 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: 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)".
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 1990. Oxalate nephropathy in a Tibetan spaniel litter. A probable case of primary hyperoxaluria. J Comp Pathol — PubMed:PMID2394849 — OMIA Phene_Article / Article
- 1991. Enzymological characterization of a putative canine analogue of primary hyperoxaluria type 1. Biochim Biophys Acta — PubMed:PMID1672096 — OMIA Phene_Article / Article
- 2012. Primary hyperoxaluria in Coton de Tulear. Anim Genet — PubMed:PMID22486513 | DOI:10.1111/j.1365-2052.2011.02260.x — OMIA Phene_Article / Article
- 2026. Serum and urine metabolomic profiling in Miniature Schnauzer dogs with and without calcium oxalate urolithiasis. Metabolomics — PubMed:PMID41961373 | DOI:10.1007/s11306-026-02429-1 — OMIA Phene_Article / Article
- 2026. Animal models for calcium oxalate kidney stone research. Zool Res — PubMed:PMID42267561 | DOI:10.24272/j.issn.2095-8137.2025.567 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:259900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:604285 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."