OMIA:001315-9615 : Osteochondrodysplasia in Canis lupus familiaris (dog)

In other species: domestic cat

Categories: Skeleton phene (incl. short stature & teeth)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600972 (trait) , 256050 (trait) , 226900 (trait) , 222600 (trait)

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 (Dog) (VBO_0201195).
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).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:001315-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

Edit History

  • Created by Frank Nicholas on 12 Jan 2013
  • Changed by Frank Nicholas on 12 Jan 2013
  • Changed by Imke Tammen2 on 29 Sep 2021