--- license: permission_granted topic_id: companion_breed_health_miniature_pinscher_cystine_urolithiasis_dog category: companion-breed-health title: "Miniature Pinscher — Cystine 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/miniature_pinscher_cystine_urolithiasis_3642.txt date_parsed: 2026-08-02 tokens_estimated: 102 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_miniature_pinscher_cystine_urolithiasis_dog/01_companion_breed_health_miniature_pinscher_cystine_urolithiasis_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: "Miniature Pinscher — Cystine urolithiasis (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001880/9615/" 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
Miniature Pinscher — Cystine 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: Miniature Pinscher (Dog)Disorder: Cystine urolithiasisMode of inheritance: Autosomal dominantClin feat: As summarised by Brons et al. (2013), cystinuria type II - B is characterised by: occurs in males and females; not androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≥ 700 in heterozygotes.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 388250811 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Using the direct candidate gene strategy, based on clinical signs, Brons et al. (2013) identified "a single base missense mutation (c.964G>A) [in SLC7A9] changing the small hydrophobic glycine residue to the larger, charged basic amino acid arginine (p.Gly322Arg) in transmembrane domain 9 of the light subunit bo,+AT" as causal in Miniature Pinschers. <br>A SLC7A9 variant (c.649A>G; p.(A217T)…
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.
- 2006. SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria. Mamm Genome — PubMed:PMID16845473 | DOI:10.1007/s00335-005-0146-4 — OMIA Phene_Article / Article
- 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
- 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
- 2015. Urolithiasis. Vet Clin North Am Small Anim Pract — PubMed:PMID26002797 | DOI:10.1016/j.cvsm.2015.03.001 — OMIA Phene_Article / Article
- 2023. Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs. Anim Genet — PubMed:PMID36971195 | DOI:10.1111/age.13321 — OMIA Phene_Article / Article
- 2016. Genetic evaluation of English bulldogs with cystine uroliths. Vet Rec — PubMed:PMID27388977 | DOI:10.1136/vr.103615 — OMIA Phene_Article / Article
- 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
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:220100 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:604144 (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."