Russian Blue — Hypothyroidism, congenital (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_russian_blue_omia902_cat category: companion-breed-health title: "Russian Blue — Hypothyroidism, congenital (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/russian_blue_omia902_902.txt date_parsed: 2026-08-02 tokens_estimated: 391 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_russian_blue_omia902_cat/01_companion_breed_health_russian_blue_omia902_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Russian Blue — Hypothyroidism, congenital (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000536/9685/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Russian Blue — Hypothyroidism, congenital (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Breed: Russian Blue (Cat)
• Disorder:
• Mode of inheritance: Autosomal recessive
• Clin feat: 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]
• Defect: yes
• 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]

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Gene: Entrez Gene ID 200685821 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: 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&gt;A; p.Ala445Thr) (omia.variant:138) (Giger et…

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 1993. Spontaneous adult-onset hypothyroidism in a cat. J Vet Intern Med — PubMed:PMID8263845 | DOI:10.1111/j.1939-1676.1993.tb01019.x — OMIA Phene_Article / Article
• 1993. Altered platelet indices in dogs with hypothyroidism and cats with hyperthyroidism. Am J Vet Res — PubMed:PMID8116929 — OMIA Phene_Article / Article
• 2001. Identifying and managing feline congenital hypothyroidism. Veterinary Medicine — OMIA Phene_Article / Article
• 2011. Congenital hypothyroidism of dogs and cats: A review. N Z Vet J — PubMed:PMID21541884 | DOI:10.1080/00480169.2011.567964 — OMIA Phene_Article / Article
• 2006. 2006 Merck/Merial National Veterinary Scholar Symposium: Creating the gumbo of progress, August 2006, Baton Rouge, Louisiana USA; http://www.vetmed.lsu.edu/Web_pdfs/Symposium_2006_Program.pdf — OMIA Phene_Article / Article
• 2003. Goiterous congenital hypothyroidism caused by thyroid peroxidase deficiency in a family of Domestic Shorthair cats. Journal of Internal Veterinary Medicine — OMIA Phene_Article / Article
• 2015. Congenital hypothyroidism with goiter in cats due to a TPO mutation. J Vet Intern Med — DOI:10.1111/jvim.12491 — OMIA Phene_Article / Article
• 2020. Clinical and diagnostic findings in a dog and a cat with congenital hypothyroidism. Vet Rec Case Rep — DOI:doi.org/10.1136/vetreccr-2020-001300 — OMIA Phene_Article / Article
• 2006. Diagnosis of congenital and adult-onset hypothyroidism in cats. Clin Tech Small Anim Pract — PubMed:PMID16584030 | DOI:10.1053/j.ctsap.2005.12.007 — OMIA Phene_Article / Article
• 2022. Evaluation of weight gain, clinicopathological and radiographic changes after early diagnosis and treatment of congenital hypothyroidism in cats. Vet Sci — PubMed:PMID35324868 | DOI:10.3390/vetsci9030140 — OMIA Phene_Article / Article
• 2022. Association of recessive c.430G>A (p.(Gly144Arg)) thyroid peroxidase variant with primary congenital hypothyroidism in cats. J Vet Intern Med — PubMed:PMID36054182 | DOI:10.1111/jvim.16524 — OMIA Phene_Article / Article
• 2023. Medical management of dental abnormalities related to congenital hypothyroidism in a cat. J Vet Dent — PubMed:PMID36916150 | DOI:10.1177/08987564231161362 — OMIA Phene_Article / Article
• (3 additional references in OMIA)

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:274500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:606765 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."