Chondrodysplasia, Disproportionate Short-limbed (Discovered in the Norwegian Elkhound; ITGA10-related)
Chondrodysplasia, Disproportionate Short-limbed (Discovered in the Norwegian Elkhound; ITGA10-related). Autosomal recessive. Observed in 8 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,664 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:001886-9615
- 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.) per OMIA.OMIA · documented
- Autosomal recessive
- Source dataset
- Sniff Atlas v1.0.1 / DOI
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
Clinical features
Molecular genetics
Donner et al. (2016) "present an unexpected molecular explanation for one type of disproportionate dwarfism in the Chinook breed: an ITGA10 variant (c.2083C>T) [omia.variant:336] ... ." DNA panel screening for the varaint known to cuase disease in other breeds identified the variant in the Chinook breed and further investigation identified a chondrodysplastic Chinook dog that was homozygous for the ITGA10 variant."
Prevalence
Inheritance
History
Human analog
OMIA links this condition to the human gene record 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:001886-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).
Published references
The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers.
- ★Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. · PLoS One · 2016 · PMID 27525650
Why is this an OMIA Landmark paper? It is "the first large scale report of DNA panel screening across purebred dogs to date", involving the genotyping of 6,788 dogs from 233 breeds for 93 disease-implicated variants across 80 single-locus disorders, providing a very informative "snapshot" of the distribution and frequency of these variants. Importantly, the results indicated "15 risk variants in a total of 34 breeds in which their presence was previously undocumented", which will be very helpful in the provision of genetic counselling in those breeds. The detection of some of these latter variants led to "plausible molecular explanations" for disorders in some breeds.
- Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. · Genome Biol · 2023 · PMID 37582787
- Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10. · PLoS One · 2013 · PMID 24086591
- Chondrodysplasia in the Norwegian Elkhound · Am J Pathol · 1982 · PMID 7081383
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 Chondrodysplasia, Disproportionate Short-limbed (Discovered in the Norwegian Elkhound; ITGA10-related) 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 Chondrodysplasia, Disproportionate Short-limbed (Discovered in the Norwegian Elkhound; ITGA10-related) looks like in your dog's breed.
Top 8 well-sampled breeds (n ≥ 50)
Maximum carrier frequencyCarrier frequencyWhat it isHow many dogs in a breed carry one copy of a disease variant, usually without being affected themselves.For your dogA carrier is typically healthy. For most recessive conditions a dog needs two copies to be at risk.PreciselyThe proportion of a population carrying at least one copy of the variant allele. Population prevalence, 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 | Carrier frequency | n tested |
|---|---|---|
| Chinook | 14.0% | 82 |
| Norwegian Elkhound | 5.4% | 166 |
| Karelian Bear Dog | 4.4% | 68 |
| Boston Terrier | <0.1% | 3,702 |
| Boxer | <0.1% | 4,557 |
| American Staffordshire Terrier | <0.1% | 42,793 |
| German Shepherd | <0.1% | 15,648 |
| Labrador Retriever | <0.1% | 16,855 |
258 additional breeds in the Donner 2023 cohort were tested but showed no carriers.
From genotype to phenotype
Carrier status is not the same as disease status. Penetrance is the fraction of at-risk dogs that develop the phenotype. The Donner 2023 S4 table tracks this for 1 variant(s) underlying this disease in the cohort.
- At-risk dogs evaluated
- 2
- Phenotype confirmed
- 2
- Penetrance range
- not yet quantifiable
Fewer than 20 at-risk dogs evaluated; too few to state a penetrance figure.
Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome is governed by 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 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:001886-9615.
- 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.
Related
- 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:001886-9615, authoritative clinical reference.
- About OMIA, the catalogue this record comes from, and how Sniff uses it.