English Setter — Also described as epidermal acantholysis (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_english_setter_also_described_as_epidermal_acantholysis_dog category: companion-breed-health title: "English Setter — Also described as epidermal acantholysis (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/english_setter_also_described_as_epidermal_acantholysis_4334.txt date_parsed: 2026-08-02 tokens_estimated: 565 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_english_setter_also_described_as_epidermal_acantholysis_dog/01_companion_breed_health_english_setter_also_described_as_epidermal_acantholysis_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: "English Setter — Also described as epidermal acantholysis (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002265/9615/" 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

English Setter — Also described as epidermal acantholysis (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: English Setter (Dog)
• Disorder: Also described as epidermal acantholysis
• Mode of inheritance: Autosomal dominant
• Clin feat: Sueki et al. (1997) reported skin lesions on the ventral chest of a single 7 month old English Setter and on the head and knee of two of his crossbred offspring: skin lesions were characterized by hairless, hypertrophic plaques ... The surface of the lesion was rough, with occasional serous crusting and peripheral scaling .... Pruritus was minimal. The lesions enlarged slowly, and no additional lesion developed. Linek et al. (2020) reported a 4-month-old female Irish Terrier ... with a well demarcated ulcerative and crusting lesion in the right ear canal. ... The lesion was successfully treated .... Over the course of three years, the dog additionally developed three dermal nodules of up to 4 cm in diameter that were excised and healed without complications.
• Defect: yes
• Pathology: Sueki et al. (1997): Histopathologically, these lesions [in the English Setter] showed epidermal hyperplasia with individual enlargement of keratinocytes, extensive acantholysis and minimal dyskeratosis. Ultrastructural analysis revealed that attachment plaques of desmosomes were still intact while some tonofilaments were detached from them in early lesions; there were well-developed microvilli at dissociated cell surfaces. Linek et al. (2020): clinical, histological, immunohistological, and ultrastructural findings in a male English Setter and two of its female offspring were initially reported as Hailey-Hailey disease [Shanley et al., 1993; Sueki et al., 1997]. A subsequent study found depletion of the ATP2A2-gated stores in cultured keratinocytes from one of these dogs and suggested that these dogs had Darier disease and not Hailey-Hailey disease as previously reported [Müller et al., 2006]. Pathohistology of the Irish Terrier revealed multiple infundibular cysts extending from the upper dermis to the subcutis. The cysts were lined by squamous epithelium, which presented with abundant acantholysis of suprabasal keratinocytes. Infundibular cysts represent a novel finding not previously reported in Darier patients. (Linek et al., 2020)

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: SERCA2A (Entrez Gene ID 388199337) — OMIA Phene_Gene / GeneSynonym
• OMIA molecular-genetics note: Linek et al. (2020): "Whole genome sequencing of the affected [Irish Terrier] dog was performed, and the [comparative] functional candidate genes for Darier disease (ATP2A2) and Hailey-Hailey disease (ATP2C1) were investigated. The analysis revealed a heterozygous SINE insertion into the ATP2A2 gene, at the end of intron 14, close to the boundary of exon 15. Analysis of the ATP2A2 mRNA from skin o…

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.

• 1997. Dominantly inherited epidermal acantholysis in dogs, simulating human benign familial chronic pemphigus (Hailey-Hailey disease). Br J Dermatol — PubMed:PMID9068730 — OMIA Phene_Article / Article
• 2009. Dermatoses affecting desmosomes in animals: a mechanistic review of acantholytic blistering skin diseases. Vet Dermatol — PubMed:PMID20178467 | DOI:10.1111/j.1365-3164.2009.00821.x — OMIA Phene_Article / Article
• 2020. ATP2A2 SINE insertion in an Irish Terrier with Darier disease and associated infundibular cyst formation. Genes (Basel) — PubMed:PMID32354065 | DOI:10.3390/genes11050481 — OMIA Phene_Article / Article
• 2006. Consequences of depleted SERCA2-gated calcium stores in the skin. J Invest Dermatol — PubMed:PMID16397524 | DOI:10.1038/sj.jid.5700091 — OMIA Phene_Article / Article
• 1993. Canine benign familial chronic pemphigus. Advances in Veterinary Dermatology — 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
• 2023. Heterozygous ATP2A2 missense variant identified in a Shih Tzu with Darier disease. Anim Genet — PubMed:PMID36883421 | DOI:10.1111/age.13314 — 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:124200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:108740 (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."