OMIA:000363-9615 : Factor XI deficiency in Canis lupus familiaris |
In other species: taurine cattle , domestic cat
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
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2007
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.
Molecular basis: A molecular basis for this disorder was first reported by Tcherneva et al. (2007): "the 7th coding exon differs between normal and affected animals. It is normally 110 bp long, but in affected KBTs it contains a short interspersed nucleotide element (SINE) insertion. This exonic SINE is 90 bp long, consisting mostly of adenines coding for lysine which is presumed to affect the 3rd apple domain of the FXI gene."
Clinical features: Congenital Factor XI deficiency is characterised by abnormal haemostasis and excessive bleeding, usually following trauma or surgery. Clinical signs of abnormal haemostasis and excessive bleeding include bruising, epistaxis, and menorrhagia (Fogh and Fogh, 1988). Affected dogs have significantly decreased Factor XI activity levels (less than 10%), heterozygous/carrier dogs have decreased Factor XI activity levels, (25-50%) but appear to be asymptomatic (Fogh and Fogh, 1988).
IT thanks DVM student Su Han Thia, who provided the basis of this contribution in May 2023.
Breeds: English Springer Spaniel, Great Pyrenees, Kerry Blue Terrier.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| F11 | coagulation factor XI | Canis lupus familiaris | 16 | NC_051820.1 (46700923..46683089) | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 702 | Kerry Blue Terrier | Factor XI deficiency | F11 | insertion, gross (>20) | Naturally occurring variant | CanFam3.1 | 16 | g.44477343_44477344ins90 | c.819_820ins90 | NM_001135123.1 "an insertion of 90 bp (SINE) inside of coding exon 7" resulting in a "30 amino acids insertion in the A3 domain of FXI serine protease" (Tcherneva et al., 2007). | 2007 | Reference not in PubMed; see OMIA 000363-9615 for reference details | g. and c. coordinates kindly provided by Professor Urs Giger (27 August 2022) |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000363-9615: 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.
| 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. | |
| 2007 | Tcherneva, E., Giger, U. : |
| Molecular base of coagulation factor XI deficiency in Kerry Blue terrier. Bulgarian Journal of Veterinary Medicine 10:247-255, 2007. | |
| 1994 | Knowler, C., Giger, U., Dodds, W.J., Brooks, M. : |
| Factor XI deficiency in Kerry Blue Terriers Journal of the American Veterinary Medical Association 205:1557-1561, 1994. Pubmed reference: 7730123 . | |
| 1988 | Fogh, J.M., Fogh, I.T. : |
| Inherited coagulation disorders. Vet Clin North Am Small Anim Pract 18:231-43, 1988. Pubmed reference: 3282382 . | |
| 1974 | Dodds, W.J. : |
| Hereditary and acquired hemorrhagic disorders in animals. Prog Hemost Thromb 2:215-47, 1974. Pubmed reference: 4604529 . | |
| 1971 | Dodds, W.J., Kull, J.E. : |
| Canine factor XI (plasma thromboplastin antecedent) deficiency. J Lab Clin Med 78:746-52, 1971. Pubmed reference: 5166932 . |
Edit History
- Created by Frank Nicholas on 14 Jul 2006
- Changed by Frank Nicholas on 10 Aug 2011
- Changed by Frank Nicholas on 21 Aug 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 05 Aug 2022
- Changed by Imke Tammen2 on 12 Jun 2023