--- license: permission_granted topic_id: companion_species_health_laryngeal_paralysis_and_polyneuropathy_cntnap1_related_dog category: companion-species-health title: "Dog (Canis lupus familiaris) — Laryngeal paralysis and polyneuropathy, CNTNAP1-related (hereditary; OMIA-verified species predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump." source_file: pdf-raw/species-health/dog_laryngeal_paralysis_and_polyneuropathy_cntnap1_related_4432.txt date_parsed: 2026-08-24 tokens_estimated: 226 verification: method: substring_match claims: 4 passed: 4 date: 2026-08-24 recovered: false path: companion-species-health/companion_species_health_laryngeal_paralysis_and_polyneuropathy_cntnap1_related_dog/01_companion_species_health_laryngeal_paralysis_and_polyneuropathy_cntnap1_related_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: "Dog (Canis lupus familiaris) — Laryngeal paralysis and polyneuropathy, CNTNAP1-related (hereditary; OMIA-verified species predisposition)" url: "https://omia.org/OMIA002301/9615/" retrieved: "2026-08-24" ref: "OMIA species-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 (species-specific disorder entries)" needs_review: false
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."---
Dog (Canis lupus familiaris) — Laryngeal paralysis and polyneuropathy, CNTNAP1-related (hereditary; OMIA-verified species predisposition)
Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Species: Dog (Canis lupus familiaris)Disorder: Laryngeal paralysis and polyneuropathy, CNTNAP1-relatedClin feat: Letko et al. (2020): "key feature across breeds being breathing difficulty, often described as noisy or raspy breathing ... . Additional clinical signs, which were noted variably among the dogs, included difficulty swallowing, changes in barking frequency and quality, high-stepping and uncoordinated gait, stumbling and tripping, exercise intolerance, and limb muscle atrophy."Pathology: Letko et al. (2020): "Peroneal nerve biopsies were evaluated .... Compared to control nerve, pathological changes were similar among affected dogs of all three breeds and included a subjective decrease in the number of myelinated nerve fibers compared to control nerve ... with scattered inappropriately thin myelin sheaths for the axon diameter ..."
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 388255222 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Letko et al. (2020): "Using across-breed genome-wide association, haplotype analysis, and whole-genome sequencing, we identified a missense variant in the CNTNAP1 gene (c.2810G>A; p.Gly937Glu) in which homozygotes in both studied breeds are affected. ... Homozygosity for the missense variant in the CNTNAP1 gene is significantly associated with the development of LPPN in large and giant-sized do…
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.
- 2011. Canine inherited motor and sensory neuropathies: an updated classification in 22 breeds and comparison to Charcot-Marie-Tooth disease. Vet J — PubMed:PMID20638305 | DOI:10.1016/j.tvjl.2010.06.003 — OMIA Phene_Article / Article
- 2020. A CNTNAP1 missense variant is associated with canine laryngeal paralysis and polyneuropathy. Genes (Basel) — PubMed:PMID33261176 | DOI:10.3390/genes11121426 — OMIA Phene_Article / Article
- 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — 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
- 2025. A CNTNAP1 missense variant associated with laryngeal paralysis and polyneuropathy in young Great Dane dogs. J Vet Intern Med — PubMed:PMID40622077 | DOI:10.1111/jvim.70185 — OMIA Phene_Article / Article
- 2025. Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds. Anim Genet — PubMed:PMID40965331 | DOI:10.1111/age.70042 — 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:618186 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:602346 (type: gene) — OMIA Group_OMIM (via OMIA_ID)