OMIA:002245-9615 : Calvarial hyperostotic syndrome in Canis lupus familiaris (dog)
In other species: lion
Categories: Craniofacial phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 302030 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
Species-specific symbol: CHS
Molecular basis: Letko et al. (2020) whole-genome sequenced an affected American Staffordshire Terrier but were not able to identify a likely causal variant.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Letko et a. (2020): "persistent and sharp pain when opening mouth, painful swelling of the jaw, fever, and in some cases also severe pain of ulna and radius bones."
American Staffordshire Terrier (Dog) (VBO_0200055),
Bull Mastiff (Dog) (VBO_0200253),
English Springer Spaniel (Dog) (VBO_0200497),
obsolete Pit Bull Terrier (Dog) (VBO_0201022),
Weimaraner (Dog) (VBO_0201401).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
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.
|2020||Letko, A., Leuthard, F., Jagannathan, V., Corlazzoli, D., Matiasek, K., Schweizer, D., Hytönen, M.K., Lohi, H., Leeb, T., Drögemüller, C. :|
|Whole genome sequencing indicates heterogeneity of hyperostotic disorders in dogs. Genes (Basel) 11:163, 2020. Pubmed reference: 32033218. DOI: 10.3390/genes11020163.|
|2015||De Heer, N., Maltha, J.H.J., Van Garderen, E. :|
|Calvarial hyperostosis syndrome in a young Weimaraner dog Vlaams Diergeneeskundig Tijdschrift 84:154-157, 2015.|
|2012||Mathes, R.L., Holmes, S.P., Coleman, K.D., Radlinsky, M.A., Moore, P.A. :|
|Calvarial hyperostosis presenting as unilateral exophthalmos in a female English Springer Spaniel. Vet Ophthalmol 15:263-70, 2012. Pubmed reference: 22192474. DOI: 10.1111/j.1463-5224.2011.00969.x.|
|2011||Thompson, D.J., Rogers, W., Owen, M.C., Thompson, K.G. :|
|Idiopathic canine juvenile cranial hyperostosis in a Pit Bull Terrier. N Z Vet J 59:201-5, 2011. Pubmed reference: 21660851. DOI: 10.1080/00480169.2011.579556.|
|2006||McConnell, J.F., Hayes, A., Platt, S.R., Smith, K.C. :|
|Calvarial hyperostosis syndrome in two bullmastiffs. Vet Radiol Ultrasound 47:72-7, 2006. Pubmed reference: 16429988. DOI: 10.1111/j.1740-8261.2005.00108.x.|
|2000||Pastor, K.F., Boulay, J.P., Schelling, S.H., Carpenter, J.L. :|
|Idiopathic hyperostosis of the calvaria in five young bullmastiffs. J Am Anim Hosp Assoc 36:439-45, 2000. Pubmed reference: 10997521. DOI: 10.5326/15473317-36-5-439.|
- Created by Frank Nicholas on 13 Feb 2020
- Changed by Frank Nicholas on 18 Feb 2020