OMIA:000536-9685 : Hypothyroidism, congenital in Felis catus (domestic cat)

In other species: rock pigeon , chicken , dog , lesser panda , horse , goat , sheep

Categories: Endocrine / exocrine gland phene (incl mammary gland)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 274500 (trait) , 606765 (gene)

Links to relevant human diseases in MONDO:

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. This disorder can be caused by mutations in different genes, and forms of the disease exist that are not inherited.

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). Van Pouke et al. (2022) investigated 11 "CH [congenital hypothyroidism]-cats from 10 unrelated families [and different breeds], 11 CH-free family members, 21 unrelated CH-free cats, and 155 unrelated nondiagnosed cats from different breeds. ... Based on the clinical phenotype of the cases and literature data, TPO was chosen as the strongest candidate gene ... . Cases were first checked to carry the TPO CH-causing variant NC_018725.3 (XM_006930524.4):c.1333G>A(p.(Ala445Thr)) described by Giger et al. [2015]. ... this variant was not observed in any of the cases ... . Sequencing all coding TPO exons revealed 11 SNVs ... the c.430G>A(p.(Gly144Arg)) variant was prioritized and genotyped in all CH family members, 21 unrelated CH-free cats and 155 unrelated nondiagnosed cats ... . All cases were homozygous, all sampled parents were heterozygous, and none of the sampled healthy family members were homozygous for this variant. ... From the 155 unrelated nondiagnosed cats, 129 did not carry the variant, 23 were heterozygous, and 3 were homozygous for the variant ... . The variant was found in 15 breeds, namely the Balinese, Birman, British Longhair, British Shorthair, Chartreux, Domestic Shorthair, Domestic Medium Hair, Domestic Longhair, Exotic Shorthair, Main Coon, Norwegian Forest Cat, Oriental Shorthair, Russian Blue, Siberian, and Sphynx.

Clinical features: The most common clinical feature of a cat with congenital hypothyroidism is disproportionate dwarfism. Some features of this include a large skull with shortened mandible and ears, a square trunk and short neck (with possible goitre) and limbs, delayed eruption of deciduous and permanent teeth, and occasionally kyphosis. It is also characterised by mental deficiency, and abnormalities of the central and peripheral nervous system. Other less specific features include hypothermia, anorexia, obesity, constipation, lethargy, a persistent juvenile hair coat and delayed closure of growth plates (Greco, 2006; Hermans et al., 2020) [IT thanks DVM student Rhyanna Boyce, who provided the basis of this contribution in April 2022]

Pathology: An analysis of the biochemistry and haematology of the blood can show hypercholesterolemia, hypercalcaemia, mild non-regenerative anaemia, and low levels of thyroid hormones (T4 and THS, or thyroid scintigraphy) in a cat with congenital hypothyroidism. As thyroid hormones are key to bone development, epiphysial ossification and epiphysial dysgenesis are common features of congenital hypothyroidism. Spinal radiographs can demonstrate severely shortened vertebral bodies and open growth plates (Greco, 2006; Hermans et al., 2020; Golinelli et al., 2022) [IT thanks DVM student Rhyanna Boyce, who provided the basis of this contribution in April 2022]

Breeds: British Shorthair (Cat) (VBO_0100052), Domestic Longhair, Domestic medium-haired, Domestic Shorthair, Russian Blue (Cat) (VBO_0100200).
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
TPO thyroid peroxidase Felis catus A3 NC_058370.1 (139607018..139559349) TPO 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.

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
138 Domestic Shorthair Hypothyroidism TPO missense Naturally occurring variant Felis_catus_9.0 A3 g.142335362C>T c.1333G>A p.(A445T) XM_006930524.4; XP_006930586.2 2015 Reference not in PubMed; see OMIA 000536-9685 for reference details Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
1485 British Shorthair (Cat) Domestic Longhair Domestic medium-haired Domestic Shorthair Russian Blue (Cat) Hypothyroidism TPO missense Naturally occurring variant Felis_catus_9.0 A3 g.142345528C>T c.430G>A p.(G144R) XM_006930524.4; XP_006930586.2 2022 36054182

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:000536-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2023 Abend, G.C., de Azevedo, S.F., Dos Santos, A.S., Cobucci, G.C., de Souza, H.J.M. :
Feline congenital hypothyroidism: a case report. Braz J Vet Med 45:e003423, 2023. Pubmed reference: 38024778. DOI: 10.29374/2527-2179.bjvm003423.
Bates, J. :
Medical management of dental abnormalities related to congenital hypothyroidism in a cat. J Vet Dent 40:250-257, 2023. Pubmed reference: 36916150. DOI: 10.1177/08987564231161362.
2022 Golinelli, S., Tardo, A.M., Vecchiato, C.G., Guido, E.A., Perfetti, S., Diana, A., Fracassi, F. :
Evaluation of weight gain, clinicopathological and radiographic changes after early diagnosis and treatment of congenital hypothyroidism in cats. Vet Sci 9:140, 2022. Pubmed reference: 35324868. DOI: 10.3390/vetsci9030140.
Van Poucke, M., Van Renterghem, E., Peterson, M.E., van den Berg, M.F., Stock, E., Peelman, L.J., Daminet, S. :
Association of recessive c.430G>A (p.(Gly144Arg)) thyroid peroxidase variant with primary congenital hypothyroidism in cats. J Vet Intern Med 36:1597-1606, 2022. Pubmed reference: 36054182. DOI: 10.1111/jvim.16524.
2020 Hermans, M., Burger, N.C., Kromhout, K., Bhatti, S.F.M., Cornelis, I. :
Clinical and diagnostic findings in a dog and a cat with congenital hypothyroidism. Vet Rec Case Rep 8:e001300, 2020. DOI:
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 Greco, D.S. :
Diagnosis of congenital and adult-onset hypothyroidism in cats. Clin Tech Small Anim Pract 21:40-4, 2006. Pubmed reference: 16584030. DOI: 10.1053/j.ctsap.2005.12.007.
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. J Vet Intern Med 7:272-6, 1993. Pubmed reference: 8263845. DOI: 10.1111/j.1939-1676.1993.tb01019.x.
Sullivan, P., Gompf, R., Schmeitzel, L., Clift, R., Cottrell, M., Mcdonald, T.P. :
Altered platelet indices in dogs with hypothyroidism and cats with hyperthyroidism. Am J Vet Res 54:2004-9, 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
  • Changed by Imke Tammen2 on 22 May 2022
  • Changed by Imke Tammen2 on 11 Sep 2022