--- license: permission_granted topic_id: companion_breed_health_dogue_de_bordeaux_omia3993_dog category: companion-breed-health title: "Dogue de Bordeaux — Palmoplantar keratoderma, nonepidermolytic, focal 1 (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/dogue_de_bordeaux_omia3993_3993.txt date_parsed: 2026-08-02 tokens_estimated: 193 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_dogue_de_bordeaux_omia3993_dog/01_companion_breed_health_dogue_de_bordeaux_omia3993_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: "Dogue de Bordeaux — Palmoplantar keratoderma, nonepidermolytic, focal 1 (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002088/9615/" 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
Dogue de Bordeaux — Palmoplantar keratoderma, nonepidermolytic, focal 1 (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: Dogue de Bordeaux (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin 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.Defect: yes
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 388255238 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- 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…
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.
- 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
- 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
- 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — 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:613000 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:148067 (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."