{"topic_id":"companion_breed_health_schnauzer_standard_omia4240_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_schnauzer_standard_omia4240_dog\ncategory: companion-breed-health\ntitle: \"Schnauzer, Standard — Leukodystrophy, TSEN54-related (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/schnauzer_standard_omia4240_4240.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 293\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_schnauzer_standard_omia4240_dog/01_companion_breed_health_schnauzer_standard_omia4240_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: \"Schnauzer, Standard — Leukodystrophy, TSEN54-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002215/9615/\"\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# Schnauzer, Standard — Leukodystrophy, TSEN54-related (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: Schnauzer, Standard (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Störk et al. (2019): Clinical signs occurred shortly after birth or started at an age of under 4 weeks and included apathy, dysphoric vocalization, hypermetric ataxia, intension tremor, head tilt, circling, proprioceptive deficits, seizures and ventral strabismus consistent with a diffuse intracranial lesion. Magnetic resonance imaging revealed a diffuse white matter disease without mass effect.`\n- `Defect: yes`\n- `Pathology: Störk et al. (2019): Macroscopically, the cerebral white matter showed a gelatinous texture in the centrum semiovale. A mild hydrocephalus internus was noted. Histopathologically, a severe multifocal reduction of myelin formation and moderate diffuse edema without inflammation was detected leading to the diagnosis of leukodystrophy. In humans, TSEN54 variants cause a phenotype termed pontocerebellar hypoplasia, which is quite distinct from the phenotype seen in dogs. In dogs, the lesions predominantly concern the white matter of the cerebrum (Störk et al., 2019).`\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 388249930 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Comparison of private homozygous protein-changing variants in whole-genome sequence data from one affected dog with \"control genome sequences from 8 wolves and 213 dogs\" enabled Störk et al. (2019) to identify the likely causal variant as \"a missense variant affecting exon 5 of the TSEN54 gene\", namely \"Chr9:5,015,506C>T (CanFam 3.1 assembly) . . . XM_540434.6:c.371G>A . . . XP_540434.3:p.(Gly124A…\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- 2019. TSEN54 missense variant in Standard Schnauzers with leukodystrophy. PLoS Genet — PubMed:PMID31584937 | DOI:10.1371/journal.pgen.1008411 — 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:610204 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:277470 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:225753 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:608755 (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 — Schnauzer, Standard — Leukodystrophy, TSEN54-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Schnauzer, Standard — Leukodystrophy, TSEN54-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/31584937/","retrieved":"","ref":"PMID 31584937","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":768,"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."}