{"topic_id":"companion_breed_health_miniature_schnauzer_mps_vi_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_miniature_schnauzer_mps_vi_dog\ncategory: companion-breed-health\ntitle: \"Miniature Schnauzer — MPS VI (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/miniature_schnauzer_mps_vi_1256.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 203\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_miniature_schnauzer_mps_vi_dog/01_companion_breed_health_miniature_schnauzer_mps_vi_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: \"Miniature Schnauzer — MPS VI (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000666/9615/\"\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# Miniature Schnauzer — MPS VI (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: Miniature Schnauzer (Dog)`\n- `Disorder: MPS VI`\n- `Mode of inheritance: Autosomal recessive`\n- `Defect: yes`\n- `Prevalence: Raj et al. (2020): Over the past 17 years, a total of 425 Miniature Pinschers and two mixed‐breed dogs from the USA, Canada and UK were genotyped; of them 18 (4.2%) were homozygous for the missense variant [c.910Ggt;A], including two mixed‐breed dogs, 78 (18.3%) were heterozygous and 331 (77.5%) were homozygous for the wt allele. All of the genotyped Miniature Pinschers that had clinical signs consistent with MPS VI were homozygous for the missense variant. . . . Whereas the Miniature Pinscher variant seemed to occur commonly (0.133 allele frequency), the Miniature Schnauzer variant was presumed to be rare`\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 26646828 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in other species), Berman et al. (2004) were the first to report a molecular basis of this disorder, as follows: \"When the DNA coding sequence from miniature pinschers affected with MPS VI was compared to the normal canine sequence, a single missense mutation (G to A) was identified. This mutation,…\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- 1995. Clinical vignette. Mucopolysaccharidosis VI in a miniature pinscher. J Vet Intern Med — PubMed:PMID8558492 — OMIA Phene_Article / Article\n- 2004. Mucopolysaccharidosis type VI in miniature pinschers: Screening for the mutation. Journal of Veterinary Internal Medicine — OMIA Phene_Article / Article\n- 2012. Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. N Z Vet J — PubMed:PMID22329490 | DOI:10.1080/00480169.2011.642791 — OMIA Phene_Article / Article\n- 2012. Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats. Vet Clin Pathol — PubMed:PMID23121383 | DOI:10.1111/j.1939-165x.2012.00485.x — OMIA Phene_Article / Article\n- 2015. Mucopolysaccharidosis type VI in a juvenile miniature schnauzer dog with concurrent hypertriglyceridemia, necrotizing pancreatitis, and diabetic ketoacidosis. Can Vet J — PubMed:PMID25750448 — OMIA Phene_Article / Article\n- 2018. Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene. Vet Pathol — PubMed:PMID29157190 | DOI:10.1177/0300985817732115 — OMIA Phene_Article / Article\n- 2004. Mucopolysaccharidosis type VI caused by a point mutation in the miniature Pinscher and a deletion in the miniature Schnauzer [abstract]. 2nd International Conference on Advances in Canine & Feline Genomics. Utrecht, The Netherlands — OMIA Phene_Article / Article\n- 2020. Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci — PubMed:PMID32219101 | DOI:10.3389/fvets.2020.00080 — OMIA Phene_Article / Article\n- 2020. ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs. Anim Genet — PubMed:PMID32985704 | DOI:10.1111/age.13005 — OMIA Phene_Article / Article\n- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — 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:253200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:611542 (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 — Miniature Schnauzer — MPS VI (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Miniature Schnauzer — MPS VI (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/8558492/","retrieved":"","ref":"PMID 8558492","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":999,"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."}