Canine Mendelian disease record

Congenital Dyshormonogenic Hypothyroidism with Goiter (Discovered in the Shih Tzu)

Q: What is the human equivalent of Congenital Dyshormonogenic Hypothyroidism with Goiter (Discovered in the Shih Tzu)?

OMIA links Congenital Dyshormonogenic Hypothyroidism with Goiter (Discovered in the Shih Tzu) to its human counterpart in OMIM (OMIM 274400), the bridge to the deeper human-medicine literature for the same underlying biology.

Q: How well studied is Congenital Dyshormonogenic Hypothyroidism with Goiter (Discovered in the Shih Tzu) in dogs?

OMIA curates 2 peer-reviewed references for Congenital Dyshormonogenic Hypothyroidism with Goiter (Discovered in the Shih Tzu). The full, linked citation list is on this page.

Congenital Dyshormonogenic Hypothyroidism with Goiter (Discovered in the Shih Tzu). Autosomal recessive. Observed in 6 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,603 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier: OMIA:002174-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human thyroid dyshormonogenesis 1

This is the canine counterpart of thyroid dyshormonogenesis 1 in people. That makes affected dogs a naturally-occurring model of the human disease, and it is part of why studying dogs moves medicine forward for everyone. It does not mean your dog has the human disease. It means the two share an underlying biology.

In humans it is also called: TDH1, familial thyroid dyshormonogenesis 1, thyroid dyshormonogenesis type 1, thyroid hormonogenesis, genetic defect in, 1.

MONDO:0020716 OMIM 274400

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Sniff renders this as a model-of link; the canine disease remains the subject of this page.

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Clinical features

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."

Molecular genetics

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 > adenine (G > A) at position 45,024,672 of dog chromosome 20 (CFA20). Five of eight healthy dogs, including both parents of one of the dogs exhibiting CDHG, were heterozygous A/G, and the other 3 were homozygous for the wild-type allele G/G. No sequence variant was found in thyroid peroxidase of the affected dog [for which a DNA sample was available]."

Inheritance

Soler Arias et al. (2018): "Congenital dyshormonogenic hypothyroidism with goiter in this family [of Shih-Tzu] is an autosomal recessive trait."

Human analog

OMIA links this condition to its human counterpart in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Disease · OMIM 274400 Gene · OMIM 601843

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:002174-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

Signs & cross-references

How it presents

Catalogued in the Mondo disease ontology (the cross-species disease identity used by the Monarch Initiative) as familial thyroid dyshormonogenesis 1 (MONDO:0020716).

Phenotype terms: Human Phenotype Ontology + Mammalian Phenotype Ontology; disease terms: Mondo (Monarch Initiative). Cross-references curated by OMIA (doi:10.25910/2AMR-PV70, CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers.

Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. · PLoS Genet · 2023 · PMID 36848397
Congenital dyshormonogenic hypothyroidism with goiter caused by a sodium/iodide symporter (SLC5A5) mutation in a family of Shih-Tzu dogs. · Domest Anim Endocrinol · 2018 · PMID 29777899

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Predict a litter

Set each parent's status for Congenital Dyshormonogenic Hypothyroidism with Goiter (Discovered in the Shih Tzu) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A

Parent B

NNClear

NmCarrier

mmAffected

Clear25%

Carrier50%

Affected25%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.

Your breed

See what Congenital Dyshormonogenic Hypothyroidism with Goiter (Discovered in the Shih Tzu) looks like in your dog's breed.

Carrier frequency by breed

Top 6 well-sampled breeds (n ≥ 50)

Maximum carrier frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

0%5%10%

Pekingese1.0% · n 239

1.0%n 239

Japanese Chin0.64% · n 78

0.64%n 78

Miniature Pinscher0.15% · n 658

0.15%n 658

Chihuahua<0.1% · n 4,272

<0.1%n 4,272

Maltese<0.1% · n 2,413

<0.1%n 2,413

Pomeranian<0.1% · n 5,293

<0.1%n 5,293

n = 12,953 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas

Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Congenital Dyshormonogenic Hypothyroidism with Goiter (Discovered in the Shih Tzu) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Pekingese	1.0%	[0.3%, 3.3%]	239
Japanese Chin	0.64%	[0.1%, 5.8%]	78
Miniature Pinscher	0.15%	[0.0%, 0.9%]	658
Chihuahua	<0.1%	[0.0%, 0.2%]	4,272
Maltese	<0.1%	[0.0%, 0.2%]	2,413
Pomeranian	<0.1%	[0.0%, 0.1%]	5,293

260 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Scope of this record

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

Sniff Atlas v1.0.1 for the per-breed carrier frequencies:
Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.
OMIA for the disease definition, inheritance, and gene assignment:
Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:002174-9615.
Donner et al. 2023 for the breed × variant carrier-frequency cohort:
Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Sniff Atlas v1.0.1, the source dataset for these frequencies.
Browse breeds, per-breed Mendelian profiles, including this disease in context.
OMIA entry OMIA:002174-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated June 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:002174-9615 · Donner et al. 2023