Manchester Terrier — Xanthine urolithiasis; xanthine nephrolithiasis (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_manchester_terrier_xanthine_urolithiasis_xanthine_nephrolithiasis_dog category: companion-breed-health title: "Manchester Terrier — Xanthine urolithiasis; xanthine nephrolithiasis (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/manchester_terrier_xanthine_urolithiasis_xanthine_nephrolithiasis_4735.txt date_parsed: 2026-08-02 tokens_estimated: 318 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_manchester_terrier_xanthine_urolithiasis_xanthine_nephrolithiasis_dog/01_companion_breed_health_manchester_terrier_xanthine_urolithiasis_xanthine_nephrolithiasis_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: "Manchester Terrier — Xanthine urolithiasis; xanthine nephrolithiasis (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001819/9615/" 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

Manchester Terrier — Xanthine urolithiasis; xanthine nephrolithiasis (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: Manchester Terrier (Dog)
• Disorder: Xanthine urolithiasis; xanthine nephrolithiasis
• Mode of inheritance: Autosomal recessive
• Clin feat: In affected dogs with MOCOS deficiency excess xanthine builds up in the urine, a product which has a low solubility and readily precipitates out of urine, creating xanthine calculi (Furrow et al., 2016). These calculi act similar to most uroliths, creating partial or complete urethral obstruction, resulting in intermittent or consistent stranguria and dysuria, and may result in secondary renal damage (Furrow et al., 2016). In the dogs investigated by Tate et al. (2021) age at first diagnosis ranged from 7 weeks to 4 years. IT thanks DVM student Cameron Stuart, who provided the basis of this contribution in May 2023.
• Defect: yes
• Prevalence: The allele frequency of the MOCOS c.232G T (p.Gly78Cys) variant was 0,13 and 0,10 in 386 Manchester Terriers and 285 English Toy Terriers, respectively. The allele frequency of the MOCOS c.383delC variant was 0.03 and 0 in 109 Cavalier King Charles Spaniels and 42 English Cocker Spaniels, respectively. The MOCOS c.137 T C variant was absent from a population of 116 Dachshunds. (Tate et al., 2021)

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 388254904 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene

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.

• 1997. Bilateral xanthine nephrolithiasis in a dog. J Small Anim Pract — PubMed:PMID9239633 | DOI:10.1111/j.1748-5827.1997.tb03471.x — OMIA Phene_Article / Article
• 1996. Xanthinuria (xanthine oxidase deficiency) in two Cavalier King Charles spaniels. Veterinary Quarterly — OMIA Phene_Article / Article
• 1997. Xanthinuria in a family of Cavalier King Charles spaniels. Vet Q — PubMed:PMID9413115 | DOI:10.1080/01652176.1997.9694766 — OMIA Phene_Article / Article
• 1998. Xanthine urolithiasis in a dachshund. Vet Rec — PubMed:PMID9807792 | DOI:10.1136/vr.143.15.420 — OMIA Phene_Article / Article
• 2013. Urine concentrations of xanthine, hypoxanthine and uric acid in UK Cavalier King Charles spaniels. J Small Anim Pract — PubMed:PMID23859747 | DOI:10.1111/jsap.12106 — OMIA Phene_Article / Article
• 2016. 2016 ACVIM Forum Research Report Program: Three diverse mutations underlying canine xanthine urolithiasis. J Vet Intern Med — DOI:10.1111/jvim.13963 — OMIA Phene_Article / Article
• 1969. [Xanthine urinary lithiasis and xanthinuria in a dachshund. Deficiency, probably genetic, of the xanthine oxidase system]. C R Acad Hebd Seances Acad Sci D — PubMed:PMID4982510 — OMIA Phene_Article / Article
• 2021. Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs. Mol Genet Metab Rep — PubMed:PMID34584846 | DOI:10.1016/j.ymgmr.2021.100792 — OMIA Phene_Article / Article
• 2011. Xanthine urolithiasis in a Cavalier King Charles spaniel. Vet Rec — PubMed:PMID21742684 | DOI:10.1136/vr.d3932 — 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:603592 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:613274 (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."