OMIA 002458-9796 : Hypoparathyroidism, RAPGEF5-related in Equus caballus
The foals investigated by Rivas et al. (2020) presented with fatal idiopathic hypocalcemia, tetany and seizures.Pathology: In four of the 5 foals reported by Beyer et al. (1997) necropsy examination were conducted and in all 4 foals parathyroid tissue could not be identified.
In the cases reported by Rivas et al. (2020) the only consistent gross or histologic lesions present across all cases was the absence of normal parathyroid glands.Breed: Thoroughbred. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|RAPGEF5||Rap guanine nucleotide exchange factor 5||Equus caballus||4||NC_009147.3 (54325254..54104253)||RAPGEF5||Homologene, Ensembl, NCBI gene|
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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.
|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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|Thoroughbred||Hypoparathyroidism||RAPGEF5||nonsense (stop-gain)||Naturally occurring variant||EquCab3.0||4||g.54108297G>T||c.2624C>A||p.(S875*)||2020||32986719|
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.
|2020||Rivas, V.N., Magdesian, K.G., Fagan, S., Slovis, N.M., Luethy, D., Javsicas, L.H., Caserto, B.G., Miller, A.D., Dahlgren, A.R., Peterson, J., Hales, E.N., Peng, S., Watson, K.D., Khokha, M.K., Finno, C.J. :|
|A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals. PLoS Genet 16:e1009028, 2020. Pubmed reference: 32986719. DOI: 10.1371/journal.pgen.1009028.|
|1997||Beyer, M.J., Freestone, J.F., Reimer, J.M., Bernard, W.V., Rueve, E.R. :|
|Idiopathic hypocalcemia in foals. J Vet Intern Med 11:356-60, 1997. Pubmed reference: 9470161. DOI: 10.1111/j.1939-1676.1997.tb00480.x.|
- Created by Imke Tammen2 on 22 Oct 2021
- Changed by Imke Tammen2 on 22 Oct 2021