OMIA 000528-9796 : Hypoparathyroidism in Equus caballus

In other species: dog , domestic cat

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 146200 (trait) , 146255 (trait) , 240300 (trait) , 241410 (trait) , 247410 (trait) , 307700 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific name: See also OMIA 002458-9796 : Hypoparathyroidism, RAPGEF5-related in Equus caballus

References


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.
2010 Durie, I., van Loon, G., Hesta, M., Bauwens, C., Deprez, P. :
Hypocalcemia caused by primary hypoparathyroidism in a 3-month-old filly. J Vet Intern Med 24:439-42, 2010. Pubmed reference: 20102500. DOI: 10.1111/j.1939-1676.2009.0463.x.
1999 Hudson, N.P.H., Church, D.B., Trevena, J., Nielsen, I.L., Major, D., Hodgson, D.R. :
Primary hypoparathyroidism in two horses Australian Veterinary Journal 77:504-508, 1999. Pubmed reference: 10494394.
1998 Couetil, L.L., Sojka, J.E., Nachreiner, R.F. :
Primary hypoparathyroidism in a horse Journal of Veterinary Internal Medicine 12:45-49, 1998. Pubmed reference: 9503360.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Imke Tammen2 on 22 Oct 2021