--- license: permission_granted topic_id: companion_breed_health_alaskan_husky_alaskan_husky_encephalopathy_ahe_dog category: companion-breed-health title: "Alaskan Husky — Alaskan Husky Encephalopathy (AHE) (hereditary; OMIA-verified breed predisposition)" lang: en source: "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." source_file: pdf-raw/breed-health/alaskan_husky_alaskan_husky_encephalopathy_ahe_2606.txt date_parsed: 2026-08-02 tokens_estimated: 156 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_alaskan_husky_alaskan_husky_encephalopathy_ahe_dog/01_companion_breed_health_alaskan_husky_alaskan_husky_encephalopathy_ahe_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Alaskan Husky — Alaskan Husky Encephalopathy (AHE) (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001097/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Alaskan Husky — Alaskan Husky Encephalopathy (AHE) (hereditary; OMIA-verified breed predisposition)
Source: 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.
Claims
Breed: Alaskan Husky (Dog)Disorder: Alaskan Husky Encephalopathy (AHE)Mode of inheritance: Autosomal recessiveClin feat: As summarised by Vernau et al. (2013), Dogs with AHE may have acute onset of clinical signs, or chronic progressive waxing and waning clinical history. Typically, they have multifocal central nervous system deficits including seizures, altered mentation, dysphagia, absent menace response, central blindness, hypermetria, proprioceptive positioning deficits, facial hypoalgesia, ataxia and tetraparesis.Defect: yes
Associated gene(s)
Derived 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.
- Gene: Entrez Gene ID 388251937 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: The most likely positional candidate gene in the CFA region (see Mapping section) was SLC19A3, which "controls the uptake of thiamine in the CNS via expression of the thiamine transporter protein THTR2" (Vernau et al., 2013). Having determined that this gene is duplicated in that region of the dog genome, Vernau et al. (2013) showed that the first of these, SLC19A3.1, has a higher sequence similar…
Evidence (references)
Derived 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.
- 1996. Clinical and pathological findings of a Yorkshire terrier affected with necrotizing encephalitis. Journal of Veterinary Medical Science — PubMed:PMID8844603 — OMIA Phene_Article / Article
- 1999. Subacute necrotising encephalopathy in an Alaskan husky. Journal of Small Animal Practice — PubMed:PMID10664957 — OMIA Phene_Article / Article
- 2000. Alaskan Husky encephalopathy - a canine neurodegenerative disorder resembling subacute necrotizing encephalomyelopathy (Leigh syndrome). Acta Neuropathologica — PubMed:PMID10912920 — OMIA Phene_Article / Article
- 2009. Leigh-like subacute necrotising encephalopathy in Yorkshire Terriers: neuropathological characterisation, respiratory chain activities and mitochondrial DNA. Acta Neuropathol — PubMed:PMID19466433 | DOI:10.1007/s00401-009-0548-6 — OMIA Phene_Article / Article
- 2013. Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy. PLoS One — PubMed:PMID23469184 | DOI:10.1371/journal.pone.0057195 — OMIA Phene_Article / Article
- 2015. Thiamine deficiency-mediated brain mitochondrial pathology in Alaskan Huskies with mutation in SLC19A3.1. Brain Pathol — PubMed:PMID25117056 | DOI:10.1111/bpa.12188 — OMIA Phene_Article / Article
- 2020. SLC19A3 loss-of-function variant in Yorkshire terriers with Leigh-like subacute necrotizing encephalopathy. Genes (Basel) — PubMed:PMID33081289 | DOI:10.3390/genes11101215 — OMIA Phene_Article / Article
- 2021. Description of breed ancestry and genetic health traits in arctic sled dog breeds. Canine Med Genet — PubMed:PMID34544496 | DOI:10.1186/s40575-021-00108-z — OMIA Phene_Article / Article
- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived 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.
- OMIM:606152 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607483 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" 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."