OMIA:002607-9685 : Pyknodysostosis in Felis catus (domestic cat)

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

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601105 (gene) , 265800 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2022

Molecular basis: Lyraki et al. (2022): "A variant in CTSK was identified in the affected cat following whole-exome sequencing (WES)."

Clinical features: Lyraki et al. (2022): "A 9-month-old entire male domestic longhair cat presented with a history of pathological fractures, chronic musculoskeletal pain and poor growth. Multiple facial and skeletal abnormalities were identified on physical examination and advanced imaging (CT and radiographs)."

Breed: Domestic Longhair.
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).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CTSK cathepsin K Felis catus - no genomic information (-..-) CTSK Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1517 Domestic Longhair Pyknodysostosis CTSK nonsense (stop-gain) Naturally occurring variant Felis_catus_9.0 C1 g.105945826G>A c.724C>T p.(R242*) ENSFCAT00000003643; variant is reported in a single affected cat 2022 36532681

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002607-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2022 Lyraki, M., Hibbert, A., Langley-Hobbs, S., Lait, P., Buckley, R.M., Warren, W.C., Lyons, L.A. :
CTSK variant implicated in suspected pyknodysostosis in a domestic cat. JFMS Open Rep 8:20551169221137536, 2022. Pubmed reference: 36532681. DOI: 10.1177/20551169221137536.

Edit History

  • Created by Imke Tammen2 on 09 Jan 2023
  • Changed by Imke Tammen2 on 09 Jan 2023