--- license: permission_granted topic_id: companion_breed_health_leonberger_omia4050_dog category: companion-breed-health title: "Leonberger — Polyneuropathy, GJA9-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/leonberger_omia4050_4050.txt date_parsed: 2026-08-02 tokens_estimated: 148 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_leonberger_omia4050_dog/01_companion_breed_health_leonberger_omia4050_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: "Leonberger — Polyneuropathy, GJA9-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002119/9615/" 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
Leonberger — Polyneuropathy, GJA9-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: Leonberger (Dog)Disorder:Mode of inheritance: Autosomal incomplete dominantDefect: yesPathology: Becker et al. (2017): Resin sections from the peroneal nerve were qualitatively evaluated from 5 Leonberger dogs with PN [polyneuropathy] and the GJA9 variant .... The prominent pathologic abnormality was variably severe nerve fiber loss resulting from chronic axonal degeneration .... Large nerve fiber loss was most prominent with an increased population of small caliber nerve fibers.
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 389414795 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Becker et al. (2017) identified a likely causal variant as a "GJA9 variant (CanFam3.1: chr15.3863,524_3863,525delAG) [which] results in a frameshift (ENSCAFT00000038555: c.1107_1108delAG) and premature stop codon (F1PSG8_CANLF: p.Glu370AsnfsTer12) that is predicted to truncate almost half of the intracellular C-terminus of the encoded connexin."
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
- 2017. A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs. BMC Genomics — PubMed:PMID28841859 | DOI:10.1186/s12864-017-4081-z — 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
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:611923 (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."