British Shorthair — Feline autoimmune lymphoproliferative syndrome (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_british_shorthair_feline_autoimmune_lymphoproliferative_syndrome_cat category: companion-breed-health title: "British Shorthair — Feline autoimmune lymphoproliferative syndrome (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/british_shorthair_feline_autoimmune_lymphoproliferative_syndrome_3954.txt date_parsed: 2026-08-02 tokens_estimated: 390 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_british_shorthair_feline_autoimmune_lymphoproliferative_syndrome_cat/01_companion_breed_health_british_shorthair_feline_autoimmune_lymphoproliferative_syndrome_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: "British Shorthair — Feline autoimmune lymphoproliferative syndrome (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002064/9685/" 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

British Shorthair — Feline autoimmune lymphoproliferative syndrome (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: British Shorthair (Cat)
• Disorder: Feline autoimmune lymphoproliferative syndrome
• Mode of inheritance: Autosomal recessive
• Clin feat: Aberdein et al. (2015): Affected kittens typically developed rapidly progressive and marked generalized lymphadenopathy, moderate splenomegaly, and regenerative and likely hemolytic anemia from 6 weeks of age.
• Defect: yes
• Pathology: Aberdein et al. (2015): Microscopic findings were suggestive of multicentric T-cell lymphoma, but additional testing revealed a polyclonal population of CD3+/CD4-/CD8- double negative T cells (DNT cells).
• Prevalence: Three additional affected BSH kittens were homozygous for the variant, while 11 of 16 unaffected, but closely related, BSH cats were heterozygous for the variant. All BSH cats in the study were from a population with significant inbreeding. The variant was not identified in a further survey of 510 non-BSH cats. (Aberdein et al., 2017; Mamm Genome) Aberdein et al. (2017; NZ Vet J): Of 32 BSH cats successfully tested for the presence of the FASLG variant, one kitten (3%) was homozygous (FALPS-affected), and seven (22%) cats were heterozygous (carriers) for the FASLG variant allele, and 24 (75%) cats were homozygous for the wild type allele. The overall frequency of the FASLG variant allele in these 32 cats was 0.14. Cats carrying the FASLG variant were from all three breeding catteries sampled, including two catteries that had not previously reported cases of FALPS.

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: FASL (Entrez Gene ID 388257476) — OMIA Phene_Gene / GeneSynonym
• OMIA molecular-genetics note: Aberdein et al. (2017; Mamm Genome): insertion "of an adenine within exon 3 of the FAS-ligand gene" (c.413_414insA) at location 14607400 on chromosome FCA F1 [omia.variant:613], resulting "in a frameshift and a predicted premature stop codon at position 176 of the 280 amino acid protein chain (p.Arg140Lysfs*37)"

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.

• 2017. A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. Mamm Genome — PubMed:PMID27770190 | DOI:10.1007/s00335-016-9668-1 — OMIA Phene_Article / Article
• 2015. A novel and likely inherited lymphoproliferative disease in British Shorthair kittens. Vet Pathol — PubMed:PMID26041772 | DOI:10.1177/0300985815586224 — OMIA Phene_Article / Article
• 2017. Erratum to: A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. Mamm Genome — PubMed:PMID28101633 | DOI:10.1007/s00335-016-9676-1 — OMIA Phene_Article / Article
• 2017. Frequency of a FAS ligand gene variant associated with inherited feline autoimmune lymphoproliferative syndrome in British shorthair cats in New Zealand. N Z Vet J — PubMed:PMID28814155 | DOI:10.1080/00480169.2017.1367731 — 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:601859 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:134638 (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."