English Cocker Spaniel — Xanthine urolithiasis; xanthine nephrolithiasis (hereditary; OMIA-verified breed predisposition)

English Cocker Spaniel — 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: English Cocker Spaniel (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. 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."