Deafness and Vestibular Dysfunction (Discovered in the Doberman Pinscher)
Deafness and Vestibular Dysfunction (Discovered in the Doberman Pinscher). Autosomal recessive. Observed in 6 of 266 breeds tested in the Sniff Atlas, with measured allele frequencies drawn from 242,607 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment. The allele frequencies below count tested gene copies, not dogs, and describe how common the variant is, not disease incidence.
- OMIA identifier
- OMIA:002148-9615
- InheritanceInheritance patternWhat it isHow the condition is passed down: recessive (two copies needed), dominant (one copy), or more complex.For your dogRecessive means a single-copy carrier is usually healthy but can still pass it on.PreciselyThe documented mode of Mendelian transmission (autosomal recessive or dominant, X-linked, etc.), as listed for the variant in the Donner et al. 2023 carrier-screening catalogue.Donner et al. 2023 · documented
- Autosomal recessive
- Linked gene
- MYO7A
- Human counterpart
- In humans, this gene is MYO7A. OMIM 276903 In people, MYO7A appears tolerant of loss-of-function variation (gnomAD v4.1 constraint, LOEUF 0.99). Constraint measures intolerance to loss-of-function only and does not indicate importance; some tolerant genes cause disease through other mechanisms. In people, variants in the MYO7A gene are classified as pathogenic in ClinVar for 4 expert-reviewed conditions.
- Source dataset
- Sniff Atlas v1.0.2 / DOI
A model of human autosomal recessive nonsyndromic hearing loss 2
Dogs with this condition carry a change in MYO7A. In people, changes in the same gene cause autosomal recessive nonsyndromic hearing loss 2. This canine condition is studied as a natural model of autosomal recessive nonsyndromic hearing loss 2 in people; it is not the same as that human diagnosis. Studying dogs can move medicine forward for everyone; the canine disease remains the subject.
In people, the disease is described as: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene.
In humans it is also called: DFNB2.
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.
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 2026-08-27.
Summary
Molecular genetics
Prevalence
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.
Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:002148-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).
OMIA curates the disease definition, the clinical description and the reference list. The cross-species disease identity is Monarch's. Sniff renders these and adds the breed-level frequencies, the plain-language summary, and a stated reason wherever a number is missing.
Published references
The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers.
- An overview of canine inherited neurological disorders with known causal variants. · Animals (Basel) · 2023 · PMID 38003185
- A missense mutation in MYO7A is associated with bilateral deafness and vestibular dysfunction in the Doberman pinscher breed. · Can J Vet Res · 2019 · PMID 31097876
- Canine deafness. · Vet Clin North Am Small Anim Pract · 2012 · PMID 23122177
- Congenital sensorineural deafness in dogs: a molecular genetic approach toward unravelling the responsible genes. · Vet J · 2005 · PMID 15727910
- Congenital deafness and vestibular deficit in the Dobermann · Journal of Small Animal Practice · 1992
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.
Set each parent's status for Deafness and Vestibular Dysfunction (Discovered in the Doberman Pinscher) and see the odds for their puppies. Single recessive variant, exact Mendelian math.
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.
See what Deafness and Vestibular Dysfunction (Discovered in the Doberman Pinscher) looks like in your dog's breed.
Top 5 well-sampled breeds (n ≥ 50)
Maximum allele frequencyAllele frequencyWhat it isOf the gene copies tested in a breed, the share that carry the variant. Every dog carries two copies, so this is not the share of dogs.For your dogA dog with one copy of a recessive variant is usually healthy. It takes two copies to be at risk, and this figure does not say how many dogs carry one.PreciselyThe proportion of sampled alleles that are the variant allele, within a tested cohort. Not a carrier (genotype) frequency and not disease incidence.Sniff Atlas (Donner 2023) · measured per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervalsWilson 95% confidence intervalWhat it isThe range the true frequency is probably in. A wide range means we are less sure, usually because few dogs were tested.For your dogTrust tight ranges; treat wide ones as rough estimates.PreciselyA binomial-proportion confidence interval (Wilson score, 95%) that stays reliable at small sample sizes.Sniff Atlas methodology · statistical. 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.
▸ Full table with Wilson 95% confidence intervals
| Breed | Allele frequency | n tested |
|---|---|---|
| Dobermann Pinscher | 1.4% | 2,219 |
| Miniature Pinscher | 0.15% | 658 |
| Rottweiler | <0.1% | 4,717 |
| American Staffordshire Terrier | <0.1% | 42,779 |
| Labrador Retriever | <0.1% | 16,850 |
▸ Also observed in 1 small-sample breed (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 |
|---|---|---|
| Mudi | 4.8% | 42 |
260 additional breeds in the Donner 2023 cohort were tested but showed no carriers.
Scope
This record carries the breed-level allele 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 v1.0.2. 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 allele frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.
Citations
If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level allele frequencies) and the upstream sources:
- Sniff Atlas v1.0.2 for the per-breed allele frequencies:
Gehring, M. (2026). Sniff Atlas v1.0.2. 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:002148-9615.
- Donner et al. 2023 for the breed × variant allele-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.
Related
- Gene page: MYO7A, cited identity, disease associations, and the human-gene bridge.
- Sniff Atlas v1.0.2, the source dataset for these frequencies.
- Browse breeds, per-breed Mendelian profiles, including this disease in context.
- OMIA entry OMIA:002148-9615, authoritative clinical reference.
- About OMIA, the catalogue this record comes from, and how Sniff uses it.