{"topic_id":"companion_breed_health_australian_cattle_dog_cystine_urolithiasis_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_australian_cattle_dog_cystine_urolithiasis_dog\ncategory: companion-breed-health\ntitle: \"Australian Cattle Dog — Cystine urolithiasis (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/australian_cattle_dog_cystine_urolithiasis_3641.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 109\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_australian_cattle_dog_cystine_urolithiasis_dog/01_companion_breed_health_australian_cattle_dog_cystine_urolithiasis_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Australian Cattle Dog — Cystine urolithiasis (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001879/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Australian Cattle Dog — Cystine urolithiasis (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Australian Cattle Dog (Dog)`\n- `Disorder: Cystine urolithiasis`\n- `Mode of inheritance: Autosomal dominant`\n- `Clin feat: As summarised by Brons et al. (2013), cystinuria type II - A is characterised by: present in males and females; not androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≥8,000 in homozygotes and ≥3,000 in heterozygotes.`\n- `Defect: yes`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 403700 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Using the direct candidate gene strategy, based on clinical signs, Brons et al. (2013) identified \"in-frame 6 bp deletion removing 2 of the 3 adjacent threonine residues in exon 6 of the SLC3A1 gene\" (c.1095_1100del; p.Thr366_Thr367del) as causal in Australian Cattle Dogs.\n\n## Evidence (references)\nDerived 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.\n- 2013. SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med — PubMed:PMID24001348 | DOI:10.1111/jvim.12176 — OMIA Phene_Article / Article\n- 2021. Cystinuria in dogs and cats: What do we know after almost 200 years?. Animals (Basel) — PubMed:PMID34438894 | DOI:10.3390/ani11082437 — OMIA Phene_Article / Article\n- 2015. Urolithiasis. Vet Clin North Am Small Anim Pract — PubMed:PMID26002797 | DOI:10.1016/j.cvsm.2015.03.001 — OMIA Phene_Article / Article\n- 2025. Epidemiological evaluation of neuter status, sex, and breed in dogs with cystine uroliths. J Vet Intern Med — PubMed:PMID40298126 | DOI:10.1111/jvim.70110 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:220100 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:104614 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Australian Cattle Dog — Cystine urolithiasis (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Australian Cattle Dog — Cystine urolithiasis (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/24001348/","retrieved":"","ref":"PMID 24001348","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":669,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}