{"topic_id":"companion_breed_health_domestic_shorthair_omia4389_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_domestic_shorthair_omia4389_cat\ncategory: companion-breed-health\ntitle: \"Domestic Shorthair — Epidermolysis bullosa, simplex, KRT14-related (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/domestic_shorthair_omia4389_4389.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 426\nverification:\n  method: substring_match\n  claims: 7\n  passed: 7\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_domestic_shorthair_omia4389_cat/01_companion_breed_health_domestic_shorthair_omia4389_cat.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Domestic Shorthair — Epidermolysis bullosa, simplex, KRT14-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002281/9685/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Domestic Shorthair — Epidermolysis bullosa, simplex, KRT14-related (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Domestic Shorthair (Cat)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin 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.`\n- `Defect: yes`\n- `Pathology: 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.`\n- `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.`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 389721303 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Dettwiler et al. (2020) reported \"a homozygous nonsense variant in the KRT14 gene (c.979C&gt;T, p.Gln327*)\" (omia.variant:1229) as the likely causal variant in an affected male domestic shorthair cat.\n\n## Evidence (references)\nDerived 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.\n- 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\n- 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\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:131760 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:131900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:131800 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:601001 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:148066 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Domestic Shorthair — Epidermolysis bullosa, simplex, KRT14-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Domestic Shorthair — Epidermolysis bullosa, simplex, KRT14-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/32657488/","retrieved":"","ref":"PMID 32657488","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":910,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}