{"topic_id":"companion_breed_health_new_zealand_heading_dog_omia4432_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_new_zealand_heading_dog_omia4432_dog\ncategory: companion-breed-health\ntitle: \"New Zealand Heading Dog — Laryngeal paralysis and polyneuropathy, CNTNAP1-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/new_zealand_heading_dog_omia4432_4432.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 233\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_new_zealand_heading_dog_omia4432_dog/01_companion_breed_health_new_zealand_heading_dog_omia4432_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: \"New Zealand Heading Dog — Laryngeal paralysis and polyneuropathy, CNTNAP1-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002301/9615/\"\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# New Zealand Heading Dog — Laryngeal paralysis and polyneuropathy, CNTNAP1-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: New Zealand Heading Dog (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin 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.`\n- `Defect: yes`\n- `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 ...`\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 388255222 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- 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&gt;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…\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- 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\n- 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\n- 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\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- 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\n- 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\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:618186 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:602346 (type: gene) — 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 — New Zealand Heading Dog — Laryngeal paralysis and polyneuropathy, CNTNAP1-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"New Zealand Heading Dog — Laryngeal paralysis and polyneuropathy, CNTNAP1-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/20638305/","retrieved":"","ref":"PMID 20638305","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":880,"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."}