OMIA 000536-9685 : Hypothyroidism, congenital in Felis catus

In other species: chicken , dog , horse , goat , sheep

Possibly relevant human trait(s) and/or gene(s) (MIM number): 274500

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Cross-species summary: Deficiency of thyroid gland activity. Also known as Goiterous congenital hypothyroidism; Congenital hypothyroidism; Thyroid dyshormonogenesis

History: The occurrence of this disorder in a family of Domestic shorthair cats was reported by Mazrier et al. (2003)

Inheritance: In the family reported by Mazrier et al. (2003), autosomal recessive inhetitance was observed.

Molecular basis: By partially sequencing a strong candidate gene Morrow et al. (2006) reported the molecular basis of this disorder in Domestic shorthair cats as being very likely due to an 8bp deletion in intron 9 of the gene for the enzyme thyroid peroxidase (TPO). Further investigation by the same team identified a causal missense mutation in the TPO gene (c.1333G>A; p.Ala445Thr) (Giger et al., 2015).

Breed: Domestic Shorthair.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TPO thyroid peroxidase Felis catus A3 NC_018725.3 (142360654..142315776) TPO 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Domestic Shorthair Hypothyroidism TPO missense c.1333G>A p.A445T 2015 Reference not in PubMed; see OMIA 000536-9685 for reference details


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.
2015 Giger, U., Raj, K., Murrow, C.V., Traas, A., Erat, A.M., van Hoeven, M., Mazrier, H., Haskins, M.E. :
Congenital hypothyroidism with goiter in cats due to a TPO mutation. J Vet Intern Med 29:448; Abstract ESVE-O-4, 2015. DOI: 10.1111/jvim.12491.
2011 Bojanic, K., Acke, E., Jones, B. :
Congenital hypothyroidism of dogs and cats: A review. N Z Vet J 59:115-22, 2011. Pubmed reference: 21541884. DOI: 10.1080/00480169.2011.567964.
2006 Morrow, C.V., Traas, A., Tcherneva, E., Huff, A.M., Van Hoeven, M., Mazrier, H., Haskins, M.E., Giger, U. :
Molecular characterization of congenital goiterous hypothyroidism due to thyroid peroxidase deficiency in domestic shorthair cats. 2006 Merck/Merial National Veterinary Scholar Symposium: Creating the gumbo of progress, August 2006, Baton Rouge, Louisiana USA; Abstract 31:, 2006.
2003 Mazrier, H., French, A., Ellinwood, N.M., Van Hoeven, M., Zwiegle, J., O’Donnell, P., Jezyk, P.F., Haskins, M.E., Giger, U. :
Goiterous congenital hypothyroidism caused by thyroid peroxidase deficiency in a family of Domestic Shorthair cats Journal of Internal Veterinary Medicine 17:395-396 (abstract 67), 2003.
2001 Tobias, S., Labato, M.A. :
Identifying and managing feline congenital hypothyroidism Veterinary Medicine 96:719-+, 2001.
1993 Rand, J.S., Levine, J., Best, S.J., Parker, W. :
Spontaneous Adult-Onset Hypothyroidism in a Cat Journal of Veterinary Internal Medicine 7:272-276, 1993. Pubmed reference: 8263845.
Sullivan, P., Gompf, R., Schmeitzel, L., Clift, R., Cottrell, M., Mcdonald, T.P. :
Altered Platelet Indices in Dogs with Hypothyroidism and Cats with Hyperthyroidism American Journal of Veterinary Research 54:2004-2009, 1993. Pubmed reference: 8116929.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 15 Sep 2011
  • Changed by Frank Nicholas on 17 Nov 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Mar 2012
  • Changed by Hamutal Mazrier on 29 Jan 2015