Mixed Breed — Xanthinuria, type I (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: Mixed Breed (Dog)Disorder:Mode of inheritance: Probably autosomal recessiveDefect: yesPrevalence: The c.654GA variant was not present in 813 dog sequences included in the Dog Biomedical Variant Database Consortium (Jagannathan et al., 2019).
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 388249725 (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.
- 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
- 2019. A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves. Anim Genet — PubMed:PMID31486122 | DOI:10.1111/age.12834 — 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
- 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
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:607633 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:278300 (type: trait) — 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."