{"topic_id":"companion_breed_health_norwegian_elkhound_omia4896_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_norwegian_elkhound_omia4896_dog\ncategory: companion-breed-health\ntitle: \"Norwegian Elkhound — Ataxia, HACE1-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/norwegian_elkhound_omia4896_4896.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 351\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_norwegian_elkhound_omia4896_dog/01_companion_breed_health_norwegian_elkhound_omia4896_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: \"Norwegian Elkhound — Ataxia, HACE1-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002522/9615/\"\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# Norwegian Elkhound — Ataxia, HACE1-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: Norwegian Elkhound (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Bellamy et al. (2022): Owners reported an abnormal gait, especially in the pelvic limbs, of the affected dogs from around 4 weeks of age. The puppies were said to be unsteady, easily slipping on the floor with the pelvic limbs, occasionally falling over. In addition, they all had a hanging tail instead of the curled tail normal for this spitz breed. ... On neurological examination, the body posture was kyphotic with a broad-based pelvic limb stance. The gait was moderately ataxic with hypermetric tendencies, most prominent in the pelvic limbs.`\n- `Defect: yes`\n- `Pathology: Bellamy et al. (2022): No macroscopical abnormalities were observed .... In the cerebellum of all the examined cases, homogenous eosinophilic axonal swellings were present multifocally in the cerebellar granule cell layer ... . These structures stained positively for neurofilament by immunohistochemistry and immunofluorescence and were consistent with spheroids in the Purkinje cell axons (torpedoes) ... . Occasionally, the torpedoes were shrunken and surrounded by a vacuolated space. In the brain stem, vacuoles were found in a moderate number disseminated and multifocally, both in the white matter tracts and in neuronal nuclei close to neurons.`\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 388243815 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Bellamy et al. (2022): \"Whole genome sequencing ... detected only four closely linked private variants at CFA12 ... . All four variants were located within HACE1 ... .Two of the variants were located in the 5’-region ... and the other two ... were located ...in exon 11 (ENSCAFT00000072236.1). [One variant] ... was an already annotated synonymous variant ... [and the likely causal variant] was a 1 …\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- 2022. A 1 bp deletion in HACE1 causes ataxia in Norwegian elkhound, black. PLoS One — PubMed:PMID35061740 | DOI:10.1371/journal.pone.0261845 — 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:610876 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:616756 (type: trait) — 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 — Norwegian Elkhound — Ataxia, HACE1-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Norwegian Elkhound — Ataxia, HACE1-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/35061740/","retrieved":"","ref":"PMID 35061740","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":854,"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."}