{"topic_id":"companion_species_health_junctional_epidermolysis_bullosa_horse","category":"companion-species-health","context":"---\nlicense: permission_granted\ntopic_id: companion_species_health_junctional_epidermolysis_bullosa_horse\ncategory: companion-species-health\ntitle: \"Horse (Equus caballus) — Junctional epidermolysis bullosa (hereditary; OMIA-verified species predisposition)\"\nlang: en\nsource: \"OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump.\"\nsource_file: pdf-raw/species-health/horse_junctional_epidermolysis_bullosa_3318.txt\ndate_parsed: 2026-08-24\ntokens_estimated: 459\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-24\nrecovered: false\npath: companion-species-health/companion_species_health_junctional_epidermolysis_bullosa_horse/01_companion_species_health_junctional_epidermolysis_bullosa_horse.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: \"Horse (Equus caballus) — Junctional epidermolysis bullosa (hereditary; OMIA-verified species predisposition)\"\n  url: \"https://omia.org/OMIA001678/9796/\"\n  retrieved: \"2026-08-24\"\n  ref: \"OMIA species-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 (species-specific disorder entries)\"\n  needs_review: false\n\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\n# Horse (Equus caballus) — Junctional epidermolysis bullosa (hereditary; OMIA-verified species predisposition)\n\nSource: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to `source_file`; every claim below is a C1 byte-substring of it.\n\n## Claims\n\n- `Species: Horse (Equus caballus)`\n- `Disorder: Junctional epidermolysis bullosa`\n- `Mode of inheritance: A mare produced two affected foals when bred to two different stallions (Kohn et al., 1989).  Similarity to a hereditary condition in people suggested a recessive, autosomal mode of inheritance.  Histological studies suggested an absence of the LAMC2 gene product, making this a primary candidate gene for sequencing. After the variant in LAMC2 was identified a pedigree study involving 148 Belgian horses from the United States confirmed the autosomal recessive mode of inheritance (Spirito et al., 2002).`\n- `Summary: Several cases of junctional epidermolysis bullosa (JEB) were described for Belgian draft horse foals and similarity to a condition in humans was identified (Frame et al., 1988; Johnson et al. 1988; Kohn et al., 1989; Shapiro and McEwen, 1995). A likely causal variant was identified in the LAMC2 gene (Spirito et al., 2002). The same variant was later reported to cause JEB in the Trait Briton and the Trait Comtois draft horses in France (Milenkovic et al., 2003), and in an Italian draft horse (Cappelli et al., 2015).`\n- `Clin feat: \"Lesions can be present at birth or develop over a short period of time and are characterized by the development of vesicles and bullae that rapidly progress to erosions and ulcerations at sites of minor trauma such as the lips, the oral mucosa, and distal extremities and the coronary band, with resulting sloughing of the hoofs ... . Lesions can be secondarily affected or become pustules. Affected animals may die soon after birth due to inability to suckle.“ (Capelli et al. 2015)`\n- `Pathology: Spirito et al. (2002): \"Electron microscopy examination revealed junctional blistering and abnormal hemidesmosomes (Johnson et al., 1988)\"`\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 3645968 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\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- 1988. Hereditary junctional mechanobullous disease in a foal. Journal of the American Veterinary Medical Association — PubMed:PMID3209456 — OMIA Phene_Article / Article\n- 1995. Mechanobullous disease in a Belgian foal in eastern Ontario. Canadian Veterinary Journal — OMIA Phene_Article / Article\n- 1989. Mechanobullous disease in two Belgian foals. Equine Veterinary Journal — PubMed:PMID2767032 — OMIA Phene_Article / Article\n- 1988. Ultrastructure of junctional epidermolysis bullosa in Belgian foals. J Comp Pathol — PubMed:PMID3204167 | DOI:10.1016/0021-9975(88)90053-9 — OMIA Phene_Article / Article\n- 2003. A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds. Genetics Selection Evolution — PubMed:PMID12633536 | DOI:10.1051/gse:2003007 — OMIA Phene_Article / Article\n- 2002. Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse. J Invest Dermatol — PubMed:PMID12230513 | DOI:10.1046/j.1523-1747.2002.01852.x — OMIA Phene_Article / Article\n- 2003. Junctional epidermolysis bullosa in Belgian draft horses. Proc Am Assoc Equine Practnr — OMIA Phene_Article / Article\n- 2015. First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse. BMC Vet Res — PubMed:PMID25889423 | DOI:10.1186/s12917-015-0374-0 — 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:226700 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:226650 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:150292 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-species-health — Horse (Equus caballus) — Junctional epidermolysis bullosa (hereditary; OMIA-verified species predisposition)"],"source":{"authority":"companion-species-health","title":"Horse (Equus caballus) — Junctional epidermolysis bullosa (hereditary; OMIA-verified species predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/3209456/","retrieved":"","ref":"PMID 3209456","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":1040,"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."}