OMIA:000363-9685 : Factor XI deficiency in Felis catus (domestic cat)

In other species: dog , taurine cattle

Categories: Haematopoietic system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 264900 (gene) , 612416 (trait)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2022

Cross-species summary: Congenital factor XI deficiency / F11 deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. [Orphanet : 329] The disease is also called plasma thromboplastin antecedent (PTA) deficiency, haemophilia C, or Rosenthal syndrome.

Species-specific name: Hereditary factor XI deficiency; congenital factor XI deficiency

Species-specific symbol: FXI

Inheritance: Genotypes for the V516M variant (OMIA variant 1472) and available pedigree information were consistent with autosomal recessive inheritance (Kuder et al., 2022).

Molecular basis: Kuder et al. (2022) discovered a "common missense variant FXI-V516M [that] causes a cross-reactive material positive FXI deficiency in MCCs [Maine Coon cats] that is associated with mild-moderate bleeding tendencies".

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

Clinical features: Clinical signs of abnormal haemostasis may include unexplained and abnormal bleeding, anaemia, bruising easily, gingival bleeding, prolonged bleeding following dental extractions, development of hematomas without apparent trauma, and excessive peri-operative bleeding (Troxel et al., 2002; Renné et al., 2009; Kuder et al., 2022) IT thanks DVM student Mo’Ath Ayish, who provided the basis of this contribution in May 2023.

Pathology: Pathological features may include prolonged bleeding time and activated partial thromboplastin time (aPTT) and reduced plasma FXIa levels (Kuder et al., 2022). IT thanks DVM student Mo’Ath Ayish, who provided the basis of this contribution in May 2023.

Breeds: Domestic Shorthair, Maine Coon (Cat) (VBO_0100154).
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
F11 coagulation factor XI Felis catus - no genomic information (-..-) F11 Homologene, Ensembl , NCBI gene

Variants

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
1472 Maine Coon (Cat) Factor XI deficiency F11 missense Naturally occurring variant Felis catus 9.0 B1 g.17176154G>A c.1546G>A p.(V516M) XM_003984601.5; XP_003984650.2 2022 35627175

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000363-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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.

2022 Kuder, H., Dickeson, S.K., Brooks, M.B., Kehl, A., Müller, E., Gailani, D., Giger, U. :
A common missense variant causing factor XI deficiency and increased bleeding tendency in Maine Coon cats. Genes (Basel) 13:792, 2022. Pubmed reference: 35627175. DOI: 10.3390/genes13050792.
2009 Renné, T., Oschatz, C., Seifert, S., Müller, F., Antovic, J., Karlman, M., Benz, P.M. :
Factor XI deficiency in animal models. J Thromb Haemost 7 Suppl 1:79-83, 2009. Pubmed reference: 19630774. DOI: 10.1111/j.1538-7836.2009.03393.x.
2002 Troxel, M.T., Brooks, M.B., Esterline, M.L. :
Congenital factor XI deficiency in a domestic shorthair cat Journal of the American Animal Hospital Association 38:549-553, 2002. Pubmed reference: 12428887. DOI: 10.5326/0380549.
1988 Fogh, J.M., Fogh, I.T. :
Inherited coagulation disorders. Vet Clin North Am Small Anim Pract 18:231-43, 1988. Pubmed reference: 3282382.
1983 Feldman, B.F., Soares, C.J., Kitchell, B.E., Brown, C.C., O'Neill, S. :
Hemorrhage in a cat caused by inhibition of factor XI (plasma thromboplastin antecedent). J Am Vet Med Assoc 182:589-91, 1983. Pubmed reference: 6833100.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 05 Aug 2022
  • Changed by Imke Tammen2 on 02 May 2023