Rottweiler — Hereditary footpad hyperkeratosis (HFH) (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_rottweiler_hereditary_footpad_hyperkeratosis_hfh_dog category: companion-breed-health title: "Rottweiler — Hereditary footpad hyperkeratosis (HFH) (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/rottweiler_hereditary_footpad_hyperkeratosis_hfh_4335.txt date_parsed: 2026-08-02 tokens_estimated: 216 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_rottweiler_hereditary_footpad_hyperkeratosis_hfh_dog/01_companion_breed_health_rottweiler_hereditary_footpad_hyperkeratosis_hfh_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: "Rottweiler — Hereditary footpad hyperkeratosis (HFH) (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002266/9615/" 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

Rottweiler — Hereditary footpad hyperkeratosis (HFH) (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: Rottweiler (Dog)
• Disorder: Hereditary footpad hyperkeratosis (HFH)
• Mode of inheritance: Autosomal recessive
• Clin feat: Backel et al. (2020): A single male Rottweiler dog with severe footpad hyperkeratosis starting at an age of eight weeks was investigated. The hyperkeratosis was initially restricted to the footpads. The footpad lesions caused severe discomfort to the dog and had to be trimmed under anesthesia every 8-10 weeks. Histologically, the epidermis showed papillated villous projections of dense keratin in the stratum corneum. Starting at eight months of age, the patient additionally developed signs consistent with atopic dermatitis and recurrent bacterial skin and ear infections. Crusted hyperkeratotic plaques developed at sites of infection.
• 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: DSG-1 (Entrez Gene ID 388198946) — OMIA Phene_Gene / GeneSynonym
• OMIA molecular-genetics note: Backel et al. (2020) "sequenced the genome of the affected dog and compared the data to 655 control genomes. A search for variants in 32 candidate genes associated with human palmoplantar keratoderma (PPK) revealed a single private protein-changing variant in the affected dog. This was located in the DSG1 gene encoding desmoglein 1. . . . The identified canine variant, DSG1:c.2541_2545delGGGCT, le…

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.

• 2020. A DSG1 frameshift variant in a Rottweiler dog with footpad hyperkeratosis. Genes (Basel) — PubMed:PMID32344723 | DOI:10.3390/genes11040469 — 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:148700 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:615508 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:125670 (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."