{"topic_id":"companion_breed_health_labrador_retriever_omia6783_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_labrador_retriever_omia6783_dog\ncategory: companion-breed-health\ntitle: \"Labrador Retriever — Paw pad hyperkeratosis, GJB6-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/labrador_retriever_omia6783_6783.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 308\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_labrador_retriever_omia6783_dog/01_companion_breed_health_labrador_retriever_omia6783_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: \"Labrador Retriever — Paw pad hyperkeratosis, GJB6-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA003038/9615/\"\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# Labrador Retriever — Paw pad hyperkeratosis, GJB6-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: Labrador Retriever (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Probably autosomal dominant`\n- `Clin feat: Rietmann et al. (2026) reported At approximately 18 months old, the patient was presented to a veterinarian due to an abnormal growth on one of her outer toes. Upon further examination by a veterinarian, excessive skin growth was observed present on all four paw pads and most of the digital pads to some degree.brRietmann et al. (2026) also reported At age approximately 16 months, the owner noticed a decreased or inappropriate reaction to commands or verbal clues and expressed suspicion that the patient may have deafness or impaired hearing function. No further investigation was pursued and to this date no clear diagnosis was made.`\n- `Defect: yes`\n- `Pathology: Histological examination revealed a stratum corneumnbsp;expanded by diffuse moderate to severe orthokeratotic and occasional mild parakeratotic hyperkeratosis arranged in spires or villous-like projections. The epidermis was mildly hyperplastic, and there were small numbers of perivascular lymphocytes, plasma cells, and mast cells in the superficial dermis. (Rietmann et al. 2026).`\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 398299086 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Rietmann et al. (2026) sequenced the whole genome of an affected Labrador Retriever. Comparison of the whole genome sequencing data to 1664 unaffected control dogs revealed 12 private protein changing variants. Only one of them resided in one of 68 known functional candidate genes that were considered. This was a private <em>de novo</em> heterozygous missense variant in the <em>GJB6</em> gene, whi…\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- 2026. GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis. Anim Genet — PubMed:PMID41601192 | DOI:10.1002/age.70075 — OMIA Phene_Article / Article\n- 2013. Hearing is normal without connexin30. J Neurosci — PubMed:PMID23303923 | DOI:10.1523/JNEUROSCI.4240-12.2013 — OMIA Phene_Article / Article\n- 2026. Correction to \"GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis\". Anim Genet — PubMed:PMID41707051 | DOI:10.1002/age.70079 — 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:604418 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:129500 (type: trait) — 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 — Labrador Retriever — Paw pad hyperkeratosis, GJB6-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Labrador Retriever — Paw pad hyperkeratosis, GJB6-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/41601192/","retrieved":"","ref":"PMID 41601192","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":808,"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."}