Canine Mendelian disease record

Primary Open Angle Glaucoma (Discovered in Basset Fauve de Bretagne; ADAMTS17-related; POAG)

Q: What is the human equivalent of Primary Open Angle Glaucoma (Discovered in Basset Fauve de Bretagne; ADAMTS17-related; POAG)?

OMIA links Primary Open Angle Glaucoma (Discovered in Basset Fauve de Bretagne; ADAMTS17-related; POAG) to its human counterpart in OMIM (OMIM 613195), the bridge to the deeper human-medicine literature for the same underlying biology.

Q: How well studied is Primary Open Angle Glaucoma (Discovered in Basset Fauve de Bretagne; ADAMTS17-related; POAG) in dogs?

OMIA curates 13 peer-reviewed references for Primary Open Angle Glaucoma (Discovered in Basset Fauve de Bretagne; ADAMTS17-related; POAG). The full, linked citation list is on this page.

Primary Open Angle Glaucoma (Discovered in Basset Fauve de Bretagne; ADAMTS17-related; POAG). Autosomal recessive. Observed in 3 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,665 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:001976-9615
Inheritance: Autosomal recessive
Variant pathogenicity: Pathogenic
Source dataset: Sniff Atlas v1.0.1 / DOI

The Pathogenic grade describes the documented variant's causality, per the Animal Variant Classification Guidelines (AVCG; Boeykens et al. 2024, Front Vet Sci), an ACMG/AMP-style framework curated in OMIA. It grades the variant, not any individual dog. See the full classification table.

The human connection

A model of human Weill-Marchesani 4 syndrome, recessive

This is the canine counterpart of Weill-Marchesani 4 syndrome, recessive 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: WMS4, 15q26.3 microdeletion syndrome, Weill-Marchesani syndrome 4, Weill-Marchesani-like syndrome.

MONDO:0013176 OMIM 613195

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.

Summary

see also OMIA 000588-9615 : Lens luxation in Canis lupus familiaris

Molecular genetics

In Basset Hounds, Oliver et al. (2015) reported a likely causal mutation: "a 19 bp deletion in exon 2 that alters the reading frame and is predicted to lead to a truncated protein" (CanFam3.1 chr3:40,614,853–40,614,872). In Basset Fauve de Bretagne dogs, the same authors reported a likely causal mutation in the same gene: "a missense mutation in exon 11 causing a glycine to serine amino acid substitution ([CanFam3.1 chr3:40,808,345; c.1552G>A]; G519S) in the disintegrin-like domain of ADAMTS17 which is predicted to alter protein function". Forman et al. (2015) reported a different likely causal variant in the Petit Basset Griffon Vendéen breed, namely "a 4.96 Mb inversion . . . with breakpoints in intron 12 of ADAMTS17 (chr3:40,812,274) and a downstream intergenic region (chr3:45,768,123)". Oliver et al. (2018): "All affected [Primary open-angle glaucoma (POAG), primary lens luxation (PLL), or both] Shar-Pei were homozygous for a 6-bp deletion in exon 22 of ADAMTS17 predicted to affect the resultant protein. All unaffected Shar-Pei were heterozygous or homozygous for the wild-type allele. The variant sequence was significantly associated with affected status (diagnosis of POAG, PLL, or both). All dogs of other breeds were homozygous for the wild-type allele. The cDNA sequencing confirmed presence of the expected variant mRNA sequence in ocular tissue from the affected dog only. Gene expression analysis revealed a 4.24-fold decrease in the expression of ADAMTS17 in ocular tissue from the affected dog."

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 613195 Gene · OMIM 607511

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001976-9615, 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. Showing 6 of 13.

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. · Genome Biol · 2023 · PMID 37582787
The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition · https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf · 2021
Glaucoma-causing ADAMTS17 mutations are also reproducibly associated with height in two domestic dog breeds: selection for short stature may have contributed to increased prevalence of glaucoma. · Canine Genet Epidemiol · 2019 · PMID 31131111
Evaluation of ADAMTS17 in Chinese Shar-Pei with primary open-angle glaucoma, primary lens luxation, or both. · Am J Vet Res · 2018 · PMID 29287154
Open-angle glaucoma in the Petit Basset Griffon Vendeen. · Vet Ophthalmol · 2017 · PMID 26945802
Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease. · Sci Rep · 2017 · PMID 28176809

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 Primary Open Angle Glaucoma (Discovered in Basset Fauve de Bretagne; ADAMTS17-related; POAG) 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 Primary Open Angle Glaucoma (Discovered in Basset Fauve de Bretagne; ADAMTS17-related; POAG) looks like in your dog's breed.

Carrier frequency by breed

Top 1 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%1%2%

Shih Tzu<0.1% · n 7,527

<0.1%n 7,527

n = 7,527 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 Primary Open Angle Glaucoma (Discovered in Basset Fauve de Bretagne; ADAMTS17-related; POAG) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Shih Tzu	<0.1%	[0.0%, 0.1%]	7,527

▸ Also observed in 2 small-sample breeds (n < 50)

Frequencies in this section are statistical estimates with wide Wilson 95% confidence intervals (typically >20 percentage points). Treat these as "carriers observed but the true population frequency is not yet measurable" rather than as comparable to the well-sampled entries above.

Breed	Estimate	Wilson 95% CI	n tested
Basset Griffon Vendeen Petit	25.0%	[2.7%, 80.2%]	2
Basset Fauve De Bretagne	11.1%	[3.9%, 28.1%]	27

263 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:001976-9615.
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:001976-9615, 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:001976-9615 · Donner et al. 2023