{"topic_id":"companion_breed_health_finnish_hound_omia3348_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_finnish_hound_omia3348_dog\ncategory: companion-breed-health\ntitle: \"Finnish Hound — Ataxia, cerebellar, progressive early-onset, SEL1L-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/finnish_hound_omia3348_3348.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 302\nverification:\n  method: substring_match\n  claims: 8\n  passed: 8\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_finnish_hound_omia3348_dog/01_companion_breed_health_finnish_hound_omia3348_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: \"Finnish Hound — Ataxia, cerebellar, progressive early-onset, SEL1L-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001692/9615/\"\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# Finnish Hound — Ataxia, cerebellar, progressive early-onset, SEL1L-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: Finnish Hound (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the SEL1L gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus, locus heterogeneity for this phenotype must be considered.`\n- `Clin feat: Neurological examinations on ten affected dogs revealed rapidly progressing generalized cerebellar ataxia, tremors, and failure to thrive. Clinical signs were present by the age of 3 months, and cerebellar shrinkage was detectable through MRI. (Kyöstilä et al. (2012)`\n- `Defect: yes`\n- `Pathology: Pathological and histological examinations indicated cerebellum-restricted neurodegeneration. Marked loss of Purkinje cells was detected in the cerebellar cortex with secondary changes in other cortical layers. (Kyöstilä et al. (2012)`\n- `Control: A simple blood test is now available for detecting carriers of 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 274066165 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Kyöstilä et al. (2012) reported the causative mutation as being a \"missense mutation, c.1972T&gt;C; p.Ser658Pro, in a highly conserved protein domain\" of the SEL1L gene, whose peptide is a \"component of the endoplasmic reticulum (ER)–associated protein degradation (ERAD) machinery\". Since mutations in this gene have not previously been reported in any species, this discovery provides a new potenti…\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- 2012. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. PLoS Genet — PubMed:PMID22719266 | DOI:10.1371/journal.pgen.1002759 — OMIA Phene_Article / Article\n- 1971. [Cerebellar ataxia in a Finnish hurrier] Ett fall av cerebellar ataxi hos finsk stövare (Swedish). Suomen Eläinlääkärilehti — OMIA Phene_Article / Article\n- 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — 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:602329 (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 — Finnish Hound — Ataxia, cerebellar, progressive early-onset, SEL1L-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Finnish Hound — Ataxia, cerebellar, progressive early-onset, SEL1L-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/22719266/","retrieved":"","ref":"PMID 22719266","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":835,"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."}