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OMIA:000363-9615 : Factor XI deficiency in Canis lupus familiaris (dog)

In other species: domestic cat , 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

Disease-related: 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 (Dog) (VBO_0200497), Great Pyrenees (Dog) (VBO_0200629), Kerry Blue Terrier (Dog) (VBO_0200764).
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 Canis lupus familiaris 16 NC_051820.1 (46700923..46683089) 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 Year Published PubMed ID(s) Acknowledgements
702 Kerry Blue Terrier (Dog) 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)
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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.
2006 Tcherneva, E., Huff, A.M., Giger, U. :
Coagulation factor XI deficiency in Kerry blue terrier dogs is caused by an exonic sine insertion. Journal of Veterinary Internal Medicine 20:767 (abstract 208), 2006.
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. DOI: 10.1016/s0195-5616(88)50018-9.
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