Domestic Shorthair — XDH deficiency; xanthine uroliths; urolithiasis (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_domestic_shorthair_xdh_deficiency_xanthine_uroliths_urolithiasis_cat category: companion-breed-health title: "Domestic Shorthair — XDH deficiency; xanthine uroliths; urolithiasis (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/domestic_shorthair_xdh_deficiency_xanthine_uroliths_urolithiasis_5236.txt date_parsed: 2026-08-02 tokens_estimated: 281 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_domestic_shorthair_xdh_deficiency_xanthine_uroliths_urolithiasis_cat/01_companion_breed_health_domestic_shorthair_xdh_deficiency_xanthine_uroliths_urolithiasis_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Domestic Shorthair — XDH deficiency; xanthine uroliths; urolithiasis (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002445/9685/" 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

Domestic Shorthair — XDH deficiency; xanthine uroliths; urolithiasis (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: Domestic Shorthair (Cat)
• Disorder: XDH deficiency; xanthine uroliths; urolithiasis
• Summary: Pritchard et al. (2023): DNA was extracted from EDTA-stabilised blood obtained from a Domestic Shorthair cat with clinically confirmed xanthinuria. Whole-genome sequencing and variant assessment in XDH and MOCOS identified XDH:c.2042CT (XDH:p.(A681V)) as a candidate causative variant for xanthinuria in this cat. ... When assessed in the wider cat population, the variant had an allele frequency of 15.8%, with 0.9% of the animals assessed homozygous for the alternative allele. Cats diagnosed with xanthinuria should be tested for this variant to validate its clinical relevance in the wider population.
• Clin feat: Pritchard et al. (2023) report an 8-month-old male neutered Domestic Shorthair cat. The cat presented clinically with pollakiuria and dysuria. Voided urinalysis identified marked crystalluria and multiple small uroliths. Ultrasound identified bilateral nephroliths and xanthinuria was confirmed by infrared spectrometry ... .
• Defect: yes

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 388257265 (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.

• 2023. Candidate causative variant for xanthinuria in a Domestic Shorthair cat. Anim Genet — PubMed:PMID36970934 | DOI:10.1111/age.13318 — OMIA Phene_Article / Article
• 2024. Xanthinuria in a familial group of Munchkin cats and an unrelated domestic shorthair cat. J Feline Med Surg — PubMed:PMID38717789 | DOI:10.1177/1098612X241241408 — 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."