OMIA:000236-9615 : Craniomandibular osteopathy, generic in Canis lupus familiaris (dog) |
Categories: Craniofacial phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 114000 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: no
Mode of inheritance: Multifactorial
Considered a defect: yes
Key variant known: no
Cross-species summary: See also OMIA:002244 : Craniomandibular osteopathy, SLC37A2-related
Species-specific symbol: CMO
Inheritance: Padgett and Mostosky (1965) concluded autosomal recessive inheritance in the West Highland White terrier breed. Vagt and Distl (2108) reported evidence for multifactorial inheritance of this disorder in the Deutsch Drahthaar breed.
Molecular basis: Letko et al. (2020) discovered two likely causal variants for this disorder "In an Australian Terrier, a heterozygous missense variant in the COL1A1 gene (c.1786G>A; p.(Val596Ile)) . . . [and] in a Weimaraner, a heterozygous frameshift variant in SLC35D1 (c.1021_1024delTCAG; p.(Ser341ArgfsTer22))." The authors described the two variants as being "of uncertain significance with less evidence for pathogenicity [but occurring] in compelling functional candidate genes (COL1A1 and SLC35D1)."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Breeds:
Airedale Terrier (Dog) (VBO_0200008),
Akita (Dog) (VBO_0200010),
Australian Terrier (Dog) (VBO_0200098),
Basset Hound (Dog) (VBO_0200126),
Boxer (Dog) (VBO_0200210),
Bull Mastiff (Dog) (VBO_0200253),
Cairn Terrier (Dog) (VBO_0200267),
Curly Coated Retriever (Dog) (VBO_0200397),
Doberman Pinscher (Dog) (VBO_0200442),
English Bulldog (Dog) (VBO_0200485),
German Wirehaired Pointer (Dog) (VBO_0200602),
Great Dane (Dog) (VBO_0200623),
Labrador Retriever (Dog) (VBO_0200800),
obsolete Pit Bull Terrier (Dog) (VBO_0201022),
Old English Sheepdog (Dog) (VBO_0200969),
Pyrenean Mountain Dog (Dog) (VBO_0201113),
Scottish Terrier (Dog) (VBO_0201198),
Shetland Sheepdog (Dog) (VBO_0201217),
Weimaraner (Dog) (VBO_0201401),
West Highland White Terrier (Dog) (VBO_0201415).
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
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:000236-9615: 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.
| 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. | |
| 2018 | Vagt, J., Distl, O. : |
| Complex segregation analysis of craniomandibular osteopathy in Deutsch Drahthaar dogs. Vet J 231:30-32, 2018. Pubmed reference: 29429484. DOI: 10.1016/j.tvjl.2017.11.008. | |
| 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. | |
| 2010 | Ratterree, W.O., Glassman, M.M., Driskell, E.A., Havig, M.E. : |
| Craniomandibular osteopathy with a unique neurological manifestation in a young Akita. J Am Anim Hosp Assoc 47:e7-12, 2010. Pubmed reference: 21189419. DOI: 10.5326/JAAHA-MS-5464. | |
| 2002 | Huchkowsky, S.L. : |
| Craniomandibular osteopathy in a bullmastiff. Can Vet J 43:883-5, 2002. Pubmed reference: 12497967. | |
| LaFond, E., Breur, G.J., Austin, C.C. : | |
| Breed susceptibility for developmental orthopedic diseases in dogs Journal of the American Animal Hospital Association 38:467-477, 2002. Pubmed reference: 12220032. | |
| 1998 | Franch, J., Cesari, J.R., Font, J. : |
| Craniomandibular osteopathy in two Pyrenean mountain dogs Veterinary Record 142:455-459, 1998. Pubmed reference: 9602514. | |
| 1995 | Taylor, S.M., Remedios, A., Myers, S. : |
| Craniomandibular osteopathy in a Shetland sheepdog. Can Vet J 36:437-9, 1995. Pubmed reference: 7585421. | |
| Watson, A.D.J., Adams, W.M., Thomas, C.B. : | |
| Craniomandibular osteopathy in dogs Compendium on Continuing Education for the Practicing Veterinarian 17:911, 1995. | |
| 1992 | Lindt, F., Gagnebin, L. : |
| [What is your diagnosis? Craniomandibular osteopathy]. Schweiz Arch Tierheilkd 134:49-51, 1992. Pubmed reference: 1553519. | |
| 1983 | Alexander, J.W. : |
| Selected skeletal dysplasias: craniomandibular osteopathy, multiple cartilaginous exostoses, and hypertrophic osteodystrophy. Vet Clin North Am Small Anim Pract 13:55-70, 1983. Pubmed reference: 6346655. DOI: 10.1016/s0195-5616(83)50004-1. | |
| 1982 | Hathcock, J.T. : |
| Craniomandibular osteopathy in an English Bulldog--. J Am Vet Med Assoc 181:389, 1982. Pubmed reference: 7118716. | |
| 1979 | Thornburg, L.P. : |
| Infantile cortical hyperostosis (Caffey-Silverman syndrome). Animal model: craniomandibular osteopathy in the canine. Am J Pathol 95:575-8, 1979. Pubmed reference: 377993. | |
| 1978 | Schulz, S. : |
| A case of craniomandibular osteopathy in a Boxer. J Small Anim Pract 19:749-57, 1978. Pubmed reference: 723240. | |
| 1976 | Burk, R.L., Broadhurst, J.J. : |
| Craniomandibular osteopathy in a Great Dane. J Am Vet Med Assoc 169:635-6, 1976. Pubmed reference: 965287. | |
| 1975 | Keppler, A., Boom, J. : |
| [What is your diagnosis]. Tijdschr Diergeneeskd 100:563-5, 1975. Pubmed reference: 1154348. | |
| Watson, A.D., Huxtable, C.R., Farrow, B.R. : | |
| Craniomandibular osteopathy in Doberman Pinschers. J Small Anim Pract 16:11-9, 1975. Pubmed reference: 1117702. | |
| 1969 | Battershell, D. : |
| Craniomandibular osteopathy. J Am Vet Med Assoc 155:1735-6, 1969. Pubmed reference: 5391227. | |
| Pool, R.R., Leighton, R.L. : | |
| Craniomandibular osteopathy in a dog. J Am Vet Med Assoc 154:657-60, 1969. Pubmed reference: 5812899. | |
| 1967 | Gehring, H., Brass, W. : |
| [The "craniomandibular osteopathy" in the dog]. Dtsch Tierarztl Wochenschr 74:546-7, 1967. Pubmed reference: 5631876. | |
| 1966 | Watkins, J.D., Bradley, R. : |
| Craniomandibular osteopathy in a labrador puppy. Vet Rec 79:262-4, 1966. Pubmed reference: 6009030. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 13 Nov 2013
- Changed by Frank Nicholas on 26 May 2016
- Changed by Frank Nicholas on 15 Feb 2018
- Changed by Frank Nicholas on 11 Feb 2020
- Changed by Frank Nicholas on 12 Feb 2020