{"topic_id":"companion_breed_health_dogue_de_bordeaux_omia3993_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_dogue_de_bordeaux_omia3993_dog\ncategory: companion-breed-health\ntitle: \"Dogue de Bordeaux — Palmoplantar keratoderma, nonepidermolytic, focal 1 (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/dogue_de_bordeaux_omia3993_3993.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 193\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_dogue_de_bordeaux_omia3993_dog/01_companion_breed_health_dogue_de_bordeaux_omia3993_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: \"Dogue de Bordeaux — Palmoplantar keratoderma, nonepidermolytic, focal 1 (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002088/9615/\"\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# Dogue de Bordeaux — Palmoplantar keratoderma, nonepidermolytic, focal 1 (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: Dogue de Bordeaux (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Plassais et al. (2015): The onset usually occurred between 10 weeks and 1 year of age. First described by Paradis (1992), affected dogs exhibit a painful thickening of the footpads with severe keratinous proliferations and fissures only at the ground contact locations similar to those observed in FNEPPK patients . . . . Cracks predispose the dogs to secondary infections, leading to lameness, causing the dog to be reluctant to walk. Nails did not seem to be affected . . . Similarly, no other cutaneous sign such as oral leukoplakia, cysts, or follicular keratosis was reported.`\n- `Defect: yes`\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 388255238 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Plassais et al. (2015) \"carried out mutation screening on several keratins [located in the candidate region of CFA9] in 14 affected dogs and 16 controls and identified a complex mutation in KRT16 corresponding to an insertion/deletion (indel) of four nucleotides and a separate 1 bp deletion 15 nucleotides downstream in exon 6 . . . . This complex indel results in an insertion of 1 bp in affected d…\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- 1992. Footpad hyperkeratosis in a family of Dogues de Bordeaux. Veterinary Dermatology — DOI:10.1111/j.1365-3164.1992.tb00148.x — OMIA Phene_Article / Article\n- 2015. A spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK). Journal of Investigative Dermatology — PubMed:PMID25521457 | DOI:10.1038/jid.2014.526 — OMIA Phene_Article / Article\n- 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — 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:613000 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:148067 (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 — Dogue de Bordeaux — Palmoplantar keratoderma, nonepidermolytic, focal 1 (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Dogue de Bordeaux — Palmoplantar keratoderma, nonepidermolytic, focal 1 (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/25521457/","retrieved":"","ref":"PMID 25521457","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":755,"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."}