OMIA 000437-9913 : Haemophilia A in Bos taurus

In other species: dog , domestic cat , horse , pig , sheep

Possibly relevant human trait(s) and/or gene(s) (MIM number): 306700

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2009

Cross-species summary: Also called factor VIII deficiency. Impaired coagulability of the blood, with a consequential strong tendency to bleed, due to a deficiency of clotting factor VIII. Since the gene for this factor is located on the X chromosome, the disorder is expected to be X-linked. As with haemophilia B, this expectation has been confirmed in all species of mammal in which the disorder has been reported. In humans, there are hundreds of different mutations that give rise to haemophilia A. In domesticated animals, the disorder has been reported in a large range of species.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
F8 coagulation factor VIII Bos taurus X NC_037357.1 (36013125..36155734) F8 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Japanese Brown Haemophilia A F8 missense UMD3.1 X g.38971744T>A c.6458T>A p.L2153H 2009 19456318 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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 Khalaj, M., Abbasi, AR., Shimojo, K., Moritomo, Y., Yoneda, K., Kunieda, T. :
A missense mutation (p.Leu2153His) of the factor VIII gene causes cattle haemophilia A. Anim Genet 40:763-765, 2009. Pubmed reference: 19456318. DOI: 10.1111/j.1365-2052.2009.01906.x.
2008 Moritomo, Y., Shimojo, K., Miyadera, K., Khalaj, M., Asano, Y., Kunieda, T., Ogawa, H. :
Clinical and pathological aspects of hemophilia a in Japanese Brown cattle. J Vet Med Sci 70:293-6, 2008. Pubmed reference: 18388431.

Edit History


  • Created by Frank Nicholas on 10 Jul 2009
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011