Shih Tzu — Hypothyroidism, congenital dyshormonogenic, with goiter, SLC5A5-related (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_shih_tzu_omia4161_dog category: companion-breed-health title: "Shih Tzu — Hypothyroidism, congenital dyshormonogenic, with goiter, SLC5A5-related (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/shih_tzu_omia4161_4161.txt date_parsed: 2026-08-02 tokens_estimated: 190 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_shih_tzu_omia4161_dog/01_companion_breed_health_shih_tzu_omia4161_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Shih Tzu — Hypothyroidism, congenital dyshormonogenic, with goiter, SLC5A5-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002174/9615/" 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

Shih Tzu — Hypothyroidism, congenital dyshormonogenic, with goiter, SLC5A5-related (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: Shih Tzu (Dog)
• Disorder:
• Mode of inheritance: Autosomal recessive
• Clin feat: Soler Arias et al. (2018): The ITD was recognized by the absence of uptake of technetium-99m in the salivary glands (sg) and goiter observed by scintigraphy. In the same scan, radiopharmaceutical uptake was found in the anterior mediastinum of both [affected] dogs and in the right axillary lymph node in the oldest dog. A follicular thyroid carcinoma was diagnosed by histopathology after thyroidectomy of the older dog. An adenomatous goiter with ectopic thyroid tissue, and degenerative changes in myocardium were the findings after necropsy in the youngest dog.
• Defect: yes

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 388250977 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Soler Arias et al. (2018): "A homozygous mutation of the intron 9 splice acceptor site of SLC5A5 gene, encoding the sodium/iodine symporter (NIS), was found in the DNA of one of the affected dogs [the only one from whom a DNA sample could be obtained; the other one having died]. The mutation was a single base transition of guanine &gt; adenine (G &gt; A) at position 45,024,672 of dog chromosome 20…

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.

• 2018. Congenital dyshormonogenic hypothyroidism with goiter caused by a sodium/iodide symporter (SLC5A5) mutation in a family of Shih-Tzu dogs. Domest Anim Endocrinol — PubMed:PMID29777899 | DOI:10.1016/j.domaniend.2018.04.005 — OMIA Phene_Article / Article
• 2023. Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLoS Genet — PubMed:PMID36848397 | DOI:10.1371/journal.pgen.1010651 — OMIA Phene_Article / Article

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:274400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:601843 (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."