OMIA:002064-9685 : Autoimmune lymphoproliferative syndrome in Felis catus (domestic cat)

Categories: Immune system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601859 (trait) , 134638 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Species-specific name: Feline autoimmune lymphoproliferative syndrome

Species-specific symbol: ALPS, FALPS

Inheritance: The results presented by Aberdein et al. (2017; Mamm Genome) are consistent with autosomal recessive inheritance.

Molecular basis: 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, resulting "in a frameshift and a predicted premature stop codon at position 176 of the 280 amino acid protein chain (p.Arg140Lysfs*37)"

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: 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."

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."

Breed: British Shorthair (Cat) (VBO_0100052).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FASLG Fas ligand (TNF superfamily, member 6) Felis catus F1 NC_058384.1 (14760878..14768459) FASLG Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
613 British Shorthair (Cat) Autoimmune lymphoproliferative syndrome FASLG duplication Naturally occurring variant Felis_catus_9.0 F1 g.16871916dup c.418dup p.(R140Kfs*37) NM_001009352.1; NP_001009352.1; published as c.413_414insA "insertion of an adenine at position 14,607,400 [Felis_Catus_6.2]" (Aberdein et al., 2017); changed in this table to a recent reference genome and HGVS nomenclature 2017 27770190

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:002064-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2017 Aberdein, D., Munday, J.S., Dittmer, K.E., Heathcott, R.W., Lyons, L.A. :
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 :1-5, 2017. Pubmed reference: 28814155. DOI: 10.1080/00480169.2017.1367731.
Aberdein, D., Munday, J.S., Gandolfi, B., Dittmer, K.E., Malik, R., Garrick, D.J., Lyons, L.A. :
Erratum to: A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. Mamm Genome 28:152-154, 2017. Pubmed reference: 28101633. DOI: 10.1007/s00335-016-9676-1.
Aberdein, D., Munday, J.S., Gandolfi, B., Dittmer, K.E., Malik, R., Garrick, D.J., Lyons, L.A. :
A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. Mamm Genome 28:47-55, 2017. Pubmed reference: 27770190. DOI: 10.1007/s00335-016-9668-1.
2015 Aberdein, D., Munday, J.S., Fairley, R.A., Vernau, W., Thompson, K.G. :
A novel and likely inherited lymphoproliferative disease in British Shorthair kittens. Vet Pathol 52:1176-82, 2015. Pubmed reference: 26041772. DOI: 10.1177/0300985815586224.

Edit History

  • Created by Frank Nicholas on 28 Oct 2016
  • Changed by Frank Nicholas on 28 Oct 2016
  • Changed by Frank Nicholas on 20 May 2017
  • Changed by Frank Nicholas on 14 Sep 2017
  • Changed by Imke Tammen2 on 22 May 2022