--- license: permission_granted topic_id: companion_breed_health_rottweiler_omia4119_dog category: companion-breed-health title: "Rottweiler — Neuroaxonal dystrophy, VPS11-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/rottweiler_omia4119_4119.txt date_parsed: 2026-08-02 tokens_estimated: 280 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_rottweiler_omia4119_dog/01_companion_breed_health_rottweiler_omia4119_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: "Rottweiler — Neuroaxonal dystrophy, VPS11-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002152/9615/" 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
Rottweiler — Neuroaxonal dystrophy, VPS11-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: Rottweiler (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Lucot et al. (2018):Rottweiler NAD was first reported in the early 1980s and is characterized by a young adult age of onset with mild progression of clinical signs, typically including postural deficits, ataxia, hypermetria, intention tremor and nystagmus. Some clinical signs will develop at an older age (3-5 years old), these include head bobbing, head tremor, nystagmus and menace deficit (Chrisman, 1992). [IT thanks DVM student Hedia Chan for contributions to this entry in April 2022]Defect: yesPathology: Lucot et al. (2018): “Clinical signs reflect the predominantly sensory topographical distribution of pathology within the central nervous system, (CNS) consisting of mild cerebellar atrophy, large number of axonal spheroids, and demyelination of axons in the vestibular nucleus, lateral and medial geniculate nuclei sensory nucleus of the trigeminal nerve, gracilis and cuneate nuclei, and in the spinal cord dorsal horn.”
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 388254089 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Lucot et al. (2018): "Whole-genome sequencing of two histopathologically confirmed canine NAD cases and 98 dogs unaffected with NAD revealed a homozygous missense mutation within the Vacuolar Protein Sorting 11 (VPS11) gene (g.14777774T>C; p.H835R) that was associated with the phenotype".
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.
- 2001. Juvenile neuroaxonal dystrophy in a Rottweiler: accumulation of synaptic proteins in dystrophic axons. Acta Neuropathol — PubMed:PMID11699565 | DOI:10.1007/s004010100386 — OMIA Phene_Article / Article
- 1988. Neuroaxonal dystrophy in a Rottweiler pup. J Am Vet Med Assoc — PubMed:PMID3410773 — OMIA Phene_Article / Article
- 1984. Neuroaxonal dystrophy of Rottweiler dogs. J Am Vet Med Assoc — PubMed:PMID6698879 — OMIA Phene_Article / Article
- 1983. Canine neuroaxonal dystrophy. J Neuropathol Exp Neurol — PubMed:PMID6842267 | DOI:10.1097/00005072-198305000-00006 — OMIA Phene_Article / Article
- 2018. A missense mutation in the vacuolar protein sorting 11 (VPS11) gene is associated with neuroaxonal dystrophy in Rottweiler dogs. G3 (Bethesda) — PubMed:PMID29945969 | DOI:10.1534/g3.118.200376 — OMIA Phene_Article / Article
- 1992. Neurological diseases of Rottweilers: Neuroaxonal dystrophy and leukoenceph- alomalacia. Journal of Small Animal Practice — DOI:doi.org/10.1111/j.1748-5827.1992.tb01033.x — 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:616683 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:608549 (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."