OMIA:003087-9615 : Hypercalcaemia, CASR-related in Canis lupus familiaris (dog) |
Categories: Homeostasis / metabolism phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601199 (gene) , 239200 (trait) , 145980 (trait)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Molecular basis: Woerde et al. (2026): "Exonic sequencing of CASR of ... [the affected Border Collie] revealed homozygosity for a missense variant (Glu649Lys, NP_001074978.1) [omia.variant:1945] with predicted pathogenicity. The variant was not present in whole genome sequencing variant calls from 2,782 dogs, including 43 Border Collies."
Clinical features: Woerde et al. (2026): "A 5-year-old female spayed Border Collie cross was evaluated for a 3-year history of hypercalcemia. Abnormalities were not detected on physical examination. Parathyroid hormone (PTH) concentration was at the upper end of the reference interval, but diagnostic imaging did not identify any enlarged or ectopic parathyroid tissue. Hypercalcemia failed to resolve with unilateral parathyroidectomy, or administration of bisphosphonates, and calcimimetics. Despite hypercalcemia, urine calcium excretion was inappropriately low ... ."
Breed:
Border Collie (Dog) (VBO_0200193).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Variants
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 | Variant Type | Variant Effect | Source of Genetic Variant | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1945 | Border Collie (Dog) | Hypercalcaemia | CASR | substitution | missense | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | 33 | NC_049254.1:g.26065244G>A | NM_001081509.2:c.1945G>A | NP_001074978.1:p.(E649K) | 2026 | 41742529 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
Contact us
If you notice anything missing or in need of change, please contact us at: [email protected].
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003087-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Woerde, D.J., Palm, C.A., Cosaro, E.C., Minor, K.M., Westropp, J.L., Furrow, E. : |
| A novel missense variant in the calcium-sensing receptor gene in a dog with hypercalcemia. J Vet Intern Med 40:aalaf046, 2026. Pubmed reference: 41742529. DOI: 10.1093/jvimsj/aalaf046. |
Edit History
- Created by Imke Tammen on 05 Oct 2026