--- license: permission_granted topic_id: companion_breed_health_chesapeake_bay_retriever_omia3603_dog category: companion-breed-health title: "Chesapeake Bay Retriever — Ectodermal dysplasia/skin fragility syndrome, PKP1-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/chesapeake_bay_retriever_omia3603_3603.txt date_parsed: 2026-08-02 tokens_estimated: 248 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_chesapeake_bay_retriever_omia3603_dog/01_companion_breed_health_chesapeake_bay_retriever_omia3603_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: "Chesapeake Bay Retriever — Ectodermal dysplasia/skin fragility syndrome, PKP1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001864/9615/" 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
Chesapeake Bay Retriever — Ectodermal dysplasia/skin fragility syndrome, PKP1-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: Chesapeake Bay Retriever (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: As reported by Olivry et al. (2012), In all affected dogs, clinical signs occurred immediately after birth with spontaneous sloughing of the nose and footpad epithelium and bleeding of the ear tips if traumatized. Within 48 hours of birth, the lips and facial superficial skin layers also sloughed when rubbed dry or licked by the mother. Three dogs were kept alive by their breeder for three months; all exhibited waxing and waning superficial skin sloughing with erosions and fissures at areas of friction (axillae, groin, caudal tarsi, footpads), concave ear pinnae and mucocutaneous junctions (nasal planum, philtrum, lips, periocular area).Defect: yesPrevalence: This variant has also been detected during routine genetic testing, in Golden Retrievers (Frank Coopman, pers. comm., 2017)
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 388302952 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Extensive and detailed clinical, histological, electron micrographical and protein immunomapping investigations (the latter showing a lack of plakophilin-1 (PKP1) in affected dogs) by Olivry et al. (2012) suggested a strong candidate gene. Sequencing of the exons and exon-intron junctions of the canine PKP1 gene revealed a causative mutation: "a G-to-C conversion at the IVS1 splice donor site of t…
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.
- 2012. Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. PLoS One — PubMed:PMID22384142 | DOI:10.1371/journal.pone.0032072 — 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:604536 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:601975 (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."