--- license: permission_granted topic_id: companion_breed_health_rottweiler_omia6865_dog category: companion-breed-health title: "Rottweiler — Hypothyroidism and dwarfism, TG-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/rottweiler_omia6865_6865.txt date_parsed: 2026-08-02 tokens_estimated: 418 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_rottweiler_omia6865_dog/01_companion_breed_health_rottweiler_omia6865_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: "Rottweiler — Hypothyroidism and dwarfism, TG-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA003059/9615/" 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
Rottweiler — Hypothyroidism and dwarfism, TG-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: Rottweiler (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Abitbol et al. (2026) reported on a total of 6 affected dogs with non-goitrous hypothyroidism. Their breeders had noticed delayed growth and development two weeks after birth. Affected dogs had increased thyroid-stimulating hormone (TSH) and decreased total thyroxin (total T4) serum concentrations. The condition can be alleviated by oral thyroxin supplementation. However, even under T4 supplementation, the majority of the affected dogs exhibited pronounced dwarfism and painful orthopedic problems. Two affected dogs died at 9 and 10 months, respectively, despite oral thyroxin supplementation. Two other affected dogs had to be euthanised at 5 months of age due to pain and behavioral changes. Two affected dogs reached adulthood under thyroxin supplementation. They were markedly smaller than their non-affected littermates. Other clinical signs included limb deformities, shortening of the tail, abnormally thick skin, fatigue, and behavioral changes.Defect: yesPathology: Abitbol et al. (2026): Histopathological examination of the thyroid glands of two affected females (cases #4 and #5) revealed diffuse alterations involving the entire gland in both animals. Thyroid follicles were small and irregularly shaped (atrophic), with empty follicular lumina indicating absence of colloid, and were lined by flattened to cuboidal follicular epithelium. Multifocally, normal follicular architecture was replaced by aggregates of parafollicular cells (C cells), consistent with C-cell hyperplasia.
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 398299108 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Abitbol et al. (2026) sequenced the genome of an affected Rottweiler at 23x coverage and compared the data to genomes of 1539 genetically diverse other dogs. The "affected dog had 11 homozygous private protein-changing variants, of which only one resided in a functional candidate gene for hypothyroidism" (Abitbol et al. 2026). The identified candidate causal variant was a nonsense variant in <em>T…
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.
- 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
- 2026. TG nonsense variant in dwarf Rottweiler dogs. Anim Genet — PubMed:PMID42173671 | DOI:10.1002/age.70127 — OMIA Phene_Article / Article
- 2024. Paediatric thyroid disease. Clin Endocrinol (Oxf) — PubMed:PMID39072866 | DOI:10.1111/cen.15110 — 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:188450 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:274700 (type: trait) — 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."