What is the human equivalent of Pituitary-Dependent Hyperadrenocorticism (Discovered in Poodles)?

OMIA links Pituitary-Dependent Hyperadrenocorticism (Discovered in Poodles) to its human counterpart in OMIM (OMIM 160980, OMIM 219080, OMIM 219090), the bridge to the deeper human-medicine literature for the same underlying biology.

Canine Mendelian disease record

Pituitary-Dependent Hyperadrenocorticism (Discovered in Poodles)

Q: How well studied is Pituitary-Dependent Hyperadrenocorticism (Discovered in Poodles) in dogs?

OMIA curates 28 peer-reviewed references for Pituitary-Dependent Hyperadrenocorticism (Discovered in Poodles). The full, linked citation list is on this page.

Pituitary-Dependent Hyperadrenocorticism (Discovered in Poodles). Autosomal dominant. Observed in 22 of 266 breeds tested in the Sniff Atlas, with measured at-risk genotype frequencies drawn from 242,665 dogs (Donner 2023). Because this is a dominant trait, a single copy places a dog at risk rather than making it a silent carrier; whether the phenotype appears still depends on penetrance, modifier genes, and environment.

Dominant trait. A single copy of this variant places a dog at risk; it does not make the dog a silent carrier. The breed frequencies below are therefore at-risk frequencies, and penetrance plus modifier genes determine whether the phenotype actually appears.

OMIA identifier: OMIA:000247-9615
Inheritance: Autosomal dominant
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human Cushing disease due to pituitary adenoma

This is the canine counterpart of Cushing disease due to pituitary adenoma 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 people, the disease is described as: A form of adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by chronic over-secretion of adrenocorticotropic hormone (ACTH) due to a pituitary corticotroph adenoma.

In humans it is also called: PITA4, ACTH producing pituitary adenoma, corticotroph adenoma, corticotroph pituitary adenoma, Cushing disease.

MONDO:0009050 OMIM 160980 OMIM 219080

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Closely related human conditions exist for this gene. 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

Entries for this type of Cushing syndrome (pituitary-dependent hyperadrenocorticism, pituitary pars intermedia dysfunction (PPID)) are included for some species under the phene 'Cushing syndrome, generic' (previously 'Hyperadrenocorticism, generic'): OMIA:000494. Renamed from 'Cushing disease, pituitary-dependent hyperadrenocorticism' to 'Cushing syndrome, ACTH-dependent, pituitary-dependent hyperadrenocorticism based on ALIVE recommendations (PMID:40872711), with the following definiton: "Hypercortisolism occurs due to dysregulated ACTH secretion by the pituitary. This is generally associated with pituitary neoplasia or hyperplasia"

Molecular genetics

De-Marco et al. (2017) searched for variants in the coding region of the functional comparative candidate gene CRHR1 in 50 Poodles with pituitary-dependent hyperadrenocorticism and 50 control Poodles. An activating heterozygous mutation was identified in exon 4 of the CRHR1 gene in one of the affected poodles, and these findings were supported by protein modelling and functional characterisation of the mutant protein. The other 49 affected dogs lacked the variant and further evidence is required before any conclusions can be drawn about the relevance of this variant to pituitary hyperadrenocorticism in the wider poodle population (Heidi Schmeck 3/11/2020).

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 160980 Disease · OMIM 219080 Disease · OMIM 219090

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:000247-9615, 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 28.

Patient signalment and aetiology of hypercortisolism in Australian dogs with Cushing's syndrome. · Aust Vet J · 2025 · PMID 39817411
Agreeing Language in Veterinary Endocrinology (ALIVE): Cushing's syndrome and hypoadrenocorticism-A modified Delphi-method-based system to create consensus definitions. · Vet Sci · 2025 · PMID 40872711
Cushing's myopathy in dogs: Prevalence, clinical abnormalities, and response to treatment. · Animals (Basel) · 2024 · PMID 39518832
Lipoprotein profiles in Miniature Schnauzer dogs with idiopathic hypertriglyceridemia and hypercortisolism. · J Vet Diagn Invest · 2024 · PMID 38111301
Stiffness of the four limbs in a Jack Russell Terrier dog. · J Am Vet Med Assoc · 2024 · PMID 38103386
Cushing syndrome and other causes of insulin resistance in dogs. · Vet Clin North Am Small Anim Pract · 2023 · PMID 36898861

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 Pituitary-Dependent Hyperadrenocorticism (Discovered in Poodles) and see the odds for their puppies. Single dominant variant, exact Mendelian math.

Parent A

Parent B

NDAffected

NNUnaffected

Unaffected50%

Affected50%

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 Pituitary-Dependent Hyperadrenocorticism (Discovered in Poodles) looks like in your dog's breed.

At-risk frequency by breed

Top 17 well-sampled breeds (n ≥ 50)

Maximum at-risk 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%10%20%

Great Pyrenees11.8% · n 1,985

11.8%n 1,985

Spanish Water Dog8.9% · n 96

8.9%n 96

Poodle Standard2.7% · n 4,203

2.7%n 4,203

Australian Cattle Dog2.6% · n 982

2.6%n 982

Miniature American Shepherd2.2% · n 1,476

2.2%n 1,476

Catahoula Leopard Dog0.32% · n 154

0.32%n 154

Chihuahua0.29% · n 4,273

0.29%n 4,273

American Foxhound<0.1% · n 574

<0.1%n 574

Beagle<0.1% · n 5,292

<0.1%n 5,292

Chow Chow<0.1% · n 643

<0.1%n 643

Border Collie<0.1% · n 6,714

<0.1%n 6,714

Australian Shepherd<0.1% · n 2,296

<0.1%n 2,296

Pug<0.1% · n 5,154

<0.1%n 5,154

Great Dane<0.1% · n 3,266

<0.1%n 3,266

Pomeranian<0.1% · n 5,294

<0.1%n 5,294

n = 42,402 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 Pituitary-Dependent Hyperadrenocorticism (Discovered in Poodles) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	At-risk frequency	Wilson 95% CI	n tested
Great Pyrenees	11.8%	[10.4%, 13.3%]	1,985
Spanish Water Dog	8.9%	[4.6%, 16.2%]	96
Poodle Standard	2.7%	[2.3%, 3.3%]	4,203
Australian Cattle Dog	2.6%	[1.8%, 3.8%]	982
Miniature American Shepherd	2.2%	[1.6%, 3.1%]	1,476
Catahoula Leopard Dog	0.32%	[0.0%, 3.0%]	154
Chihuahua	0.29%	[0.2%, 0.5%]	4,273
American Foxhound	<0.1%	[0.0%, 0.8%]	574
Beagle	<0.1%	[0.0%, 0.2%]	5,292
Chow Chow	<0.1%	[0.0%, 0.7%]	643
Border Collie	<0.1%	[0.0%, 0.1%]	6,714
Australian Shepherd	<0.1%	[0.0%, 0.2%]	2,296
Pug	<0.1%	[0.0%, 0.1%]	5,154
Great Dane	<0.1%	[0.0%, 0.1%]	3,266
Pomeranian	<0.1%	[0.0%, 0.1%]	5,294
American Staffordshire Terrier	<0.1%	[0.0%, 0.0%]	42,793
Labrador Retriever	<0.1%	[0.0%, 0.0%]	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 "at-risk dogs 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
Bracco Italiano	12.5%	[1.3%, 60.4%]	4
Portuguese Podengo Pequenos	11.8%	[3.3%, 34.3%]	17
Maremma Sheepdog	5.4%	[1.5%, 17.7%]	37
Pyrenean Shepherd	1.7%	[0.2%, 14.6%]	29
Redbone Coonhound	1.7%	[0.2%, 14.6%]	29

244 additional breeds in the Donner 2023 cohort were tested but showed no at-risk genotypes.

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 at-risk 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:000247-9615.
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:000247-9615, 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:000247-9615 · Donner et al. 2023