OMIA:001315-9615 : Osteochondrodysplasia in Canis lupus familiaris
In other species: domestic cat
Categories: Skeleton phene (incl. short stature & teeth)
Links to MONDO diseases: No links.
Mendelian trait/disorder: no
Considered a defect: yes
Key variant known: no
Key variant is published: no
Species-specific name: Also known as pseudoachondroplastic dysplasia
Species-specific description: For information on osteochondrodysplasia / pseudoachondroplastic dysplasia due to SLC13A1 variants (in Miniature Poodles) see OMIA 001400-9615 : Chondrodysplasia, SLC13A1-related in Canis lupus familiaris
Inheritance: Stevens (1999) provided evidence for autosomal recessive inheritance in Scottish deerhounds.
Breed: Scottish Deerhound.
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.
|2012||Jackson, G.C., Mittaz-Crettol, L., Taylor, J.A., Mortier, G.R., Spranger, J., Zabel, B., Le Merrer, M., Cormier-Daire, V., Hall, C.M., Offiah, A., Wright, M.J., Savarirayan, R., Nishimura, G., Ramsden, S.C., Elles, R., Bonafe, L., Superti-Furga, A., Unger, S., Zankl, A., Briggs, M.D. :|
|Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat 33:144-57, 2012. Pubmed reference: 21922596 . DOI: 10.1002/humu.21611.|
|1999||Stevens, J.W. :|
|Pseudoachondroplastic dysplasia: an Iowa review from human to mouse. Iowa Orthop J 19:53-65, 1999. Pubmed reference: 10847517 .|
|1992||Breur, G.J., Farnum, C.E., Padgett, G.A., Wilsman, N.J. :|
|Cellular basis of decreased rate of longitudinal growth of bone in pseudoachondroplastic dogs. J Bone Joint Surg Am 74:516-28, 1992. Pubmed reference: 1583046 .|
|1989||Breur, G.J., Zerbe, C.A., Slocombe, R.F., Padgett, G.A., Braden, T.D. :|
|Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds. J Am Vet Med Assoc 195:606-12, 1989. Pubmed reference: 2777707 .|
|1980||Riser, W.H., Haskins, M.E., Jezyk, P.F., Patterson, D.F. :|
|Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features. J Am Vet Med Assoc 176:335-41, 1980. Pubmed reference: 6987200 .|
|1977||Bruno, W., Janik, T. :|
|What's your diagnosis? Journal of American Veterinary Medical Association 170:1097–1098, 1977.|
|1966||Lodge, D. :|
|Two cases of epiphyseal dysplasia. Veterinary Record 79:136–138, 1966.|
|1959||Gardner, D. :|
|Familial canine chondrodysplasia faetalis (achondroplasia). J Pathol Bacterio 77:243-247, 1959.|
- Changed by Frank Nicholas on 12 Jan 2013
- Created by Frank Nicholas on 12 Jan 2013
- Changed by Imke Tammen2 on 29 Sep 2021