OMIA:001315-9685 : Osteochondrodysplasia in Felis catus (domestic cat)

In other species: dog

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: yes

Mode of inheritance: Autosomal incomplete dominant

Considered a defect: yes

Key variant known: no

Species-specific name: Scottish Fold. See OMIA entry for Ears, folded (OMIA 000319-9685)

Breed: Scottish Fold (Cat) (VBO_0100209).
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. (2022). OMIA:001315-9685: 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.

2023 Velie, B.D., Milden, T., Miller, H., Haase, B. :
An estimation of osteochondrodysplasia prevalence in Australian Scottish Fold cats: a retrospective study using VetCompass Data. BMC Vet Res 19:252, 2023. Pubmed reference: 38031079. DOI: 10.1186/s12917-023-03811-0.
2022 Sartore, S., Moretti, R., Iamone, G., Piras, L.A., Chessa, S., Sacchi, P. :
Short Communication: Ligase Detection Reaction as a genotyping technique to identify cats carrying the c.1024G>T mutation on TRPV4 gene. Research Square , 2022. DOI: 10.21203/
2021 Rorden, C., Griswold, M.C., Moses, N., Berry, C.R., Keller, G.G., Rivas, R., Flores-Smith, H., Shaffer, L.G., Malik, R. :
Radiographical survey of osteochondrodysplasia in Scottish Fold cats caused by the TRPV4 gene variant. Hum Genet 140:1525-1534, 2021. Pubmed reference: 34406467. DOI: 10.1007/s00439-021-02337-5.
2020 Nakajo, T., Fujita, Y., Ichinohe, T., Maruo, T. :
Combined surgical, radiation, and medical therapies for osteochondrodysplasia in a Scottish Fold cat. J Am Anim Hosp Assoc 56:175, 2020. Pubmed reference: 32182117. DOI: 10.5326/JAAHA-MS-6980.
Takanosu, M., Hattori, Y. :
Osteochondrodysplasia in Scottish Fold cross-breed cats. J Vet Med Sci 82:1769-1772, 2020. Pubmed reference: 33162427. DOI: 10.1292/jvms.20-0299.
2019 Selting, K.A., Lattimer, J.C., Hause, W., Megan, G. :
Osteochondrodysplasia in a Scottish Fold cat treated with radiation therapy and samarium-153-1,4,7,10-tetraazacyclododecane-1,4,7,10-tetramethylene-phosphonic acid. J Am Anim Hosp Assoc 55:e55304, 2019. Pubmed reference: 30870611. DOI: 10.5326/JAAHA-MS-6797.
2016 Gandolfi, B., Alamri, S., Darby, W.G., Adhikari, B., Lattimer, J.C., Malik, R., Wade, C.M., Lyons, L.A., Cheng, J., Bateman, J.F., McIntyre, P., Lamandé, S.R., Haase, B. :
A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats. Osteoarthritis Cartilage 24:1441-50, 2016. Pubmed reference: 27063440. DOI: 10.1016/j.joca.2016.03.019.
2015 Fujiwara-Igarashi, A., Igarashi, H., Hasegawa, D., Fujita, M. :
Efficacy and complications of palliative irradiation in three Scottish Fold cats with osteochondrodysplasia. J Vet Intern Med 29:1643-7, 2015. Pubmed reference: 26365740. DOI: 10.1111/jvim.13614.
2008 Takanosu, M., Takanosu, T., Suzuki, H., Suzuki, K. :
Incomplete dominant osteochondrodysplasia in heterozygous Scottish Fold cats. J Small Anim Pract 49:197-9, 2008. Pubmed reference: 18339089. DOI: 10.1111/j.1748-5827.2008.00561.x.
2007 Chang, J., Jung, J., Oh, S., Lee, S., Kim, G., Kim, H., Kweon, O., Yoon, J., Choi, M. :
Osteochondrodysplasia in three Scottish Fold cats. J Vet Sci 8:307-9, 2007. Pubmed reference: 17679781. DOI: 10.4142/jvs.2007.8.3.307.
2004 Hubler, M., Volkert, M., Kaser-Hotz, B., Arnold, S. :
Palliative irradiation of Scottish Fold osteochondrodysplasia. Vet Radiol Ultrasound 45:582-5, 2004. Pubmed reference: 15605854. DOI: 10.1111/j.1740-8261.2004.04101.x.
2002 Schrey, C., Gerlach, K.F. :
Osteochondrodysplasia in poodle cats (Rex Fold) Kleintierpraxis 47:433-435, 2002.
2000 Simon, D. :
Osteochondrodystrophy in the Scottish fold cat Tierarztliche Praxis Ausgabe Kleintiere Heimtiere 28:86+, 2000.
1999 Malik, R., Allan, G.S., Howlett, C.R., Thompson, D.E., James, G., McWhirter, C., Kendall, K. :
Osteochondrodysplasia in Scottish Fold cats Australian Veterinary Journal 77:85-92, 1999. Pubmed reference: 10078353. DOI: 10.1111/j.1751-0813.1999.tb11672.x.

Edit History

  • Created by Frank Nicholas on 18 Sep 2005
  • Changed by Frank Nicholas on 16 Jun 2017
  • Changed by Imke Tammen2 on 22 May 2022