{"topic_id":"companion_breed_health_brazilian_terrier_omia1258_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_brazilian_terrier_omia1258_dog\ncategory: companion-breed-health\ntitle: \"Brazilian Terrier — Mucopolysaccharidosis VII (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/brazilian_terrier_omia1258_1258.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 796\nverification:\n  method: substring_match\n  claims: 9\n  passed: 9\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_brazilian_terrier_omia1258_dog/01_companion_breed_health_brazilian_terrier_omia1258_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: \"Brazilian Terrier — Mucopolysaccharidosis VII (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000667/9615/\"\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# Brazilian Terrier — Mucopolysaccharidosis VII (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: Brazilian Terrier (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: Mucopolysaccharidosis VII is a lysosomal storage disease characterized by accumulation of undegraded glycosaminoglycans (dermatan, heparan, and chondroitin sulfates) in lysosomes. Clinical signs include facial dysmorphia, diffuse corneal clouding, appendicular and axial skeletal lesions, and glycosaminoglycans in urine. Affected animals are deficient in the enzyme beta-glucuronidase, which is a lysosomal acid hydrolase. Affected animals have very low enzyme activity compared to normal animals, and carriers have 40-60% enzyme activity compared to normal animals. The mode of inheritance is autosomal recessive. The causative mutation is a G to A substitution in the gene coding for the hydrolase, beta-glucuronidase (GUSB). There is a test available to detect the causative mutation. Testing siblings of affected dogs is recommended. Breeding of carriers or affected dogs is not recommended. Edited by Mark Haskins, VMD, Ph.D`\n- `Clin feat: At 4 weeks of age, affected dogs show a shortened, broad face, low-set ears, and a laterally broad chest. By 8 weeks of age, diffuse corneal clouding is apparent. At 9 weeks of age, affected dogs are half as large as their normal littermates, but have disproportionately large heads. Polymorphonuclear leukocytes and lymphocytes from affected animals contain coarse cytoplasmic granules that stain with toluidine blue. Urine from affected animals contain excessive chondroitin 4- and 6-sulfates and dermatan and heparan sulfates. By 2 to 5 months of age, affected dogs have trouble standing but can move in sternal recumbency. Most joints are easily subluxated and crepitant, with swollen, fluctuant joint capsules filled with excessive synovial fluid. There is significant epiphyseal dysplasia. Cardiac abnormalities, primarily mitral insufficiency and aortic aneurism can be present but are variable (Haskins et al., 1991).`\n- `Defect: yes`\n- `Pathology: Affected animals are deficient in the enzyme beta-glucuronidase, which is a lysosomal acid hydrolase. Affected animals have very low enzyme activity compared to normal animals, and carriers have 40-60% enzyme activity compared to normal animals. Signs are caused by accumulation of undegraded glycosaminoglycans in lysosomes (Ray et al., 1999). Affected animals exhibit a misshapen and narrowed trachea, thickening of the AV heart valve leaflets and chordae tendinae, thickened aortic arch, hyperplasia of synovial membranes, and erosion of the articular cartilage (Haskins et al., 1991). Cytoplasmic vacuoles are evident in neurons of the central nervous system, hepatocytes, Kupffer cells, keratocytes, retinal pigment epithelium, AV heart valve fibroblasts, aortic smooth muscle cells, leukocytes, chondrocytes, and synovial cells. These vacuoles are either empty or contain granular or lamellar material (Haskins et al., 1991).`\n- `Control: Testing siblings of affected dogs is recommended. Breeding of carriers or affected dogs is not recommended.`\n- `Gen test: There is a test available to detect the causative mutation.`\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 403831 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n\n## Causal variant(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- Variant: chromosome 1; nt change c.574-589del; pathogenicity class 1 — OMIA Variant / Variant_Phene\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- 1990. Restoration of Normal Lysosomal Function in  Mucopolysaccharidosis Type-VII Cells by Retroviral Vector- Mediated Gene Transfer. Proceedings of the National Academy of Sciences of the United  States of America — PubMed:PMID2158095 — OMIA Phene_Article / Article\n- 1989. Characterization of the Defective Beta-Glucuronidase Activity  in Canine Mucopolysaccharidosis Type-VII. Enzyme — PubMed:PMID2515056 — OMIA Phene_Article / Article\n- 1991. Mucopolysaccharidosis Type-VII (Sly Syndrome) - Beta- Glucuronidase-Deficient Mucopolysaccharidosis in the Dog. Am J Pathol — PubMed:PMID1905109 — OMIA Phene_Article / Article\n- 1992. Hepatic storage of glycosaminoglycans in feline and canine models of mucopolysaccharidoses I, VI, and VII. Vet Pathol — PubMed:PMID1632054 | DOI:10.1177/030098589202900203 — OMIA Phene_Article / Article\n- 1984. Beta-glucuronidase deficiency in a dog: a model of human mucoploysaccharidosis VII. Pediatric Research — PubMed:PMID6436780 — OMIA Phene_Article / Article\n- 1998. Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells. Genomics — PubMed:PMID9521879 | DOI:10.1006/geno.1997.5189 — OMIA Phene_Article / Article\n- 1998. Molecular diagnostic tests for ascertainment of genotype at the mucopolysaccharidosis type VII locus in dogs. American Journal of Veterinary Research — PubMed:PMID9736382 — OMIA Phene_Article / Article\n- 1999. Biochemical basis of the beta-glucuronidase gene defect causing canine mucopolysaccharidosis VII. Journal of Heredity — PubMed:PMID9987917 — OMIA Phene_Article / Article\n- 2000. Effects of bone marrow transplantation on the cardiovascular abnormalities in canine mucopolysaccharidosis VII. Bone Marrow Transplantation — PubMed:PMID10871735 | DOI:10.1038/sj.bmt.1702448 — OMIA Phene_Article / Article\n- 2002. Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs. Proceedings of the National Academy of Sciences of the United States of America — PubMed:PMID12232044 | DOI:10.1073/pnas.192353499 — OMIA Phene_Article / Article\n- 2004. Gene therapy ameliorates cardiovascular disease in dogs with mucopolysaccharidosis VII. Circulation — PubMed:PMID15289379 | DOI:10.1161/01.CIR.0000138747.82487.4B — OMIA Phene_Article / Article\n- 2004. Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs. Mol Genet Metab — PubMed:PMID15110316 | DOI:10.1016/j.ymgme.2004.01.015 — OMIA Phene_Article / Article\n- (30 additional references in OMIA)\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:253220 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:611499 (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 — Brazilian Terrier — Mucopolysaccharidosis VII (hereditary; OMIA-verified breed predisposition) (retrieved 2026-08-22)"],"source":{"authority":"companion-breed-health","title":"Brazilian Terrier — Mucopolysaccharidosis VII (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/2158095/","retrieved":"2026-08-22","ref":"PMID 2158095","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":1204,"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."}