OMIA:000363-9685 : Factor XI deficiency in Felis catus (domestic cat) |
In other species: dog , taurine cattle
Categories: Haematopoietic system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 264900 (gene) , 612416 (trait)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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".
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. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
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
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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 | 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. DOI: 10.1016/s0195-5616(88)50018-9. | |
| 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