--- license: permission_granted topic_id: companion_breed_health_vizsla_omia3907_dog category: companion-breed-health title: "Vizsla — Cerebellar cortical degeneration, SNX14-related (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/vizsla_omia3907_3907.txt date_parsed: 2026-08-02 tokens_estimated: 367 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_vizsla_omia3907_dog/01_companion_breed_health_vizsla_omia3907_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: "Vizsla — Cerebellar cortical degeneration, SNX14-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002034/9615/" 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
Vizsla — Cerebellar cortical degeneration, SNX14-related (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: Vizsla (Dog)Disorder: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 SNX14 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.Clin feat: Fenn et al. (2016) report two affected littermates with a history of progressive ataxia, starting around three months of age. Clinical signs included marked hypermetric and dysmetric ataxia, truncal sway, intention tremors and absent menace responses, with positional horizontal nystagmus in one dog. Routine diagnostic investigations were unremarkable, and magnetic resonance imaging performed in one dog revealed mild craniodorsal cerebellar sulci widening, supportive of cerebellar atrophy.Defect: yesPathology: Fenn et al. (2016): Owners of both dogs elected for euthanasia shortly after the onset of signs. Histopathological examination revealed primary Purkinje neuron loss consistent with CCD [cerebellar cortical degeneration].Prevalence: Fenn et al. (2016): Genetic screening of 133 unaffected Hungarian Vizslas revealed the presence of three heterozygotes, supporting the presence of carriers in the wider population
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 388243793 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Fenn et al. (2016): "an exon 26 splice donor variant (CanFam3.1, chr12:45,530,566, c.2653 + 1G > A) in the Sorting Nexin 14 (SNX14) gene"
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.
- 2016. Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed. BMC Genet — PubMed:PMID27566131 | DOI:10.1186/s12863-016-0433-y — OMIA Phene_Article / Article
- 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
- 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:616354 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:616105 (type: gene) — 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."