European Shorthair — Epidermolysis bullosa, junctionalis, COL17A1-related (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_european_shorthair_omia5690_cat category: companion-breed-health title: "European Shorthair — Epidermolysis bullosa, junctionalis, COL17A1-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/european_shorthair_omia5690_5690.txt date_parsed: 2026-08-02 tokens_estimated: 294 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_european_shorthair_omia5690_cat/01_companion_breed_health_european_shorthair_omia5690_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "European Shorthair — Epidermolysis bullosa, junctionalis, COL17A1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002793/9685/" 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

European Shorthair — Epidermolysis bullosa, junctionalis, COL17A1-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: European Shorthair (Cat)
• Disorder:
• Mode of inheritance: Probably autosomal recessive
• Clin feat: Kiener et al. (2023) investigated two unrelated cats with recurring erosions and ulcers on ear pinnae, oral mucosa, and paw pads that were suggestive of EB. ... Case 1 [American Shorthair] was severe and had to be euthanized at 5 months of age. Case 2 [European Shorthair] had a milder course and was alive at 11 years of age ... .brFussell et al. (2026): The [domestic shorthair] kitten was presented with blistering lesions affecting friction-prone areas of haired skin, mucocutaneous junctions, and oral mucosa.
• Defect: yes
• Pathology: Kiener et al. (2023): Histopathology confirmed the diagnosis of EB in both cats.brFussell et al. (2026): Histopathology revealed extensive subepidermal cleft formation in affected tissues. Periodic acid–Schiff (PAS) staining showed a thin, PAS-positive line along the dermal side of the cleft, consistent with retention of the lamina densa. Transmission electron microscopy confirmed separation at the level of the lamina lucida with intact basal keratinocytes.

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 389725616 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Kiener et al. (2023) investigated two unrelated cats with epidermolysis bullosa (EB): "Whole genome sequencing of both affected cats revealed independent homozygous variants in <em>COL17A1</em> encoding the collagen type XVII alpha 1 chain. ... The identified splice site variant in case 1 [American Shorthair], c.3019+1del [omia.variant:1634], was predicted to lead to a complete deficiency in colla…

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.

• 2023. Independent COL17A1 variants in cats with junctional epidermolysis bullosa. Genes (Basel) — PubMed:PMID37895184 | DOI:10.3390/genes14101835 — OMIA Phene_Article / Article
• 2026. Novel frameshift variant in exon 7 of COL17A1 in a domestic shorthair kitten with junctional epidermolysis bullosa. J Vet Diagn Invest — PubMed:PMID41588668 | DOI:10.1177/10406387251414540 — 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:113811 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:619787 (type: trait) — 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."