--- license: permission_granted topic_id: companion_breed_health_domestic_shorthair_omia4389_cat category: companion-breed-health title: "Domestic Shorthair — Epidermolysis bullosa, simplex, KRT14-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/domestic_shorthair_omia4389_4389.txt date_parsed: 2026-08-02 tokens_estimated: 426 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_domestic_shorthair_omia4389_cat/01_companion_breed_health_domestic_shorthair_omia4389_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: "Domestic Shorthair — Epidermolysis bullosa, simplex, KRT14-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002281/9685/" 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
Domestic Shorthair — Epidermolysis bullosa, simplex, KRT14-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: Domestic Shorthair (Cat)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Dettwiler et al. (2020): At presentation, the cat was lethargic and inappetent. Partial to complete sloughing of the paw pad skin affecting multiple pads with multifocal re‐epithelization underneath was present . . . . The gums, hard palate, buccal mucosa and ventral aspect of the tongue were multifocally ulcerated . . . . Lesions were not contiguous with teeth, which appeared normal. Ulcers were also present at the inner aspect of both pinnae . . . . The cat tested negative for FIV, FeLV, toxoplasma and Coronavirus.Defect: yesPathology: Dettwiler et al. (2020): Biopsy specimens from paw pads and tongue were submitted for histopathological examination. Both tissues displayed a multifocal detachment of the epithelium, without associated interface inflammation . . . . These blisters were roofed by the epithelial basal layer showing an uneven contour . . . . The basement membrane covering the dermis and lamina propria, respectively, was the blister floor, as confirmed by PAS reaction . . . . In areas with adherent epithelium, multifocal cytoplasmic vacuolation of basal keratinocytes was seen . . . . The paw pad tissue was covered with one to two layers of necrotic detached epidermis alternating with serocellular crusts . . . . Paw pad dermis and mucosal connective tissue displayed a mild to moderate mixed inflammation.Prevalence: Dettwiler et al. (2020): Sanger sequencing confirmed the mutant allele to be present in a homozygous state in the affected cat and absent from 154 unaffected cats from different breeds.
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 389721303 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Dettwiler et al. (2020) reported "a homozygous nonsense variant in the KRT14 gene (c.979C>T, p.Gln327*)" (omia.variant:1229) as the likely causal variant in an affected male domestic shorthair cat.
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 nonsense variant in the KRT14 gene in a domestic shorthair cat with epidermolysis bullosa simplex. Anim Genet — PubMed:PMID32657488 | DOI:10.1111/age.12979 — OMIA Phene_Article / Article
- 2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — 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:131760 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:131900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:131800 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:601001 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:148066 (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."