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Canine Mendelian disease record

Pituitary-Dependent Hyperadrenocorticism (Discovered in Poodles)

Pituitary-Dependent Hyperadrenocorticism (Discovered in Poodles). Autosomal dominant. Observed in 22 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:000247-9615
Inheritance
Autosomal dominant
Source dataset
Sniff Atlas v1.0.1 / DOI
Carrier frequency by breed

Top 17 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.

Breed Carrier frequency n tested
Great Pyrenees 11.8% 1,985
Spanish Water Dog 8.9% 96
Poodle Standard 2.7% 4,203
Australian Cattle Dog 2.6% 982
Miniature American Shepherd 2.2% 1,476
Catahoula Leopard Dog 2.0% 154
Chihuahua 2.0% 4,273
American Foxhound 2.0% 574
Beagle 2.0% 5,292
Chow Chow 2.0% 643
Border Collie 2.0% 6,714
Australian Shepherd 2.0% 2,296
Pug 2.0% 5,154
Great Dane 2.0% 3,266
Pomeranian 2.0% 5,294
American Staffordshire Terrier 2.0% 42,793
Labrador Retriever 2.0% 16,856
▸ Also observed in 5 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 n tested
Bracco Italiano 12.5% 4
Portuguese Podengo Pequenos 11.8% 17
Maremma Sheepdog 5.4% 37
Pyrenean Shepherd 2.0% 29
Redbone Coonhound 2.0% 29

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

Scope of this record

Scope

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. Carrier frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

Citations

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:

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

Related

Related

Last updated
Sources: Sniff Atlas v1.0.1 · OMIA OMIA:000247-9615 · Donner et al. 2023