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Canine Mendelian disease record

Shar-Pei Autoinflammatory Disease (SPAID)

Shar-Pei Autoinflammatory Disease (SPAID). Autosomal dominant (incomplete penetrance). Observed in 10 of 266 breeds tested in the Sniff Atlas, with measured at-risk genotype frequencies drawn from 242,660 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:001561-9615
Autosomal dominant (incomplete penetrance)
Source dataset
Sniff Atlas v1.0.1 / DOI
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.

Clinical features

Shar-Pei autoinflammatory disease (SPAID) is characterized by five signs of inflammation: familial Shar-Pei fever (FSF), arthritis, vesicular hyaluronosis, otitis and amyloidosis.

Molecular genetics

Olsson et al. (2011), from the LUPA consortium, presented evidence suggestive that the "distinctive thick and heavily folded skin" of the Shar-Pei breed is associated with several copies of a the "meatmouth" (CNV-E) duplication upstream of the HAS2 gene that encodes hyaluronic acid synthase 2. The duplication results in over-expression of the HAS2 enzyme which in turn results in a build-up of hyaluronan (HA) in the skin, creating the breed-specific characteristic. Unfortunately, a build-up of HA also increases the risk of periodic fever syndrome, by triggering the innate immune response. Metzger and Distl (2014) reported no difference in the number of copies of either the "meatmouth" or "traditional" duplications between 16 "susceptible" and 79 "unaffected" Shar-Pei dogs. Using droplet digital PCR (ddPCR), Olsson et al. (2016) showed that alleles of CNV_14.3 and CNV_16.1 remain stable between generations (i.e. the number of copies remains stable). The authors also showed that "CNV_16.1 allele five (CNV_16.1|5) resulted in a four-fold increase in the odds for SPAID (p < 0.001). The inclusion of a genetic marker for CNV_16.1 in a genome-wide association test revealed that this variant explained 9.7 % of genetic variance and 25.8 % of the additive genetic heritability of this autoinflammatory disease." Metzger et al. (2017) reported "a missense variant in MTBP [g.19383758G >A; c.??G>A; p.E??K] acting via MDM2 [Mouse double minute 2 homolog] for a proinflammatory reaction" "to be highly associated with SPAID in Shar-Pei".

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.

Gene · OMIM 601636 Gene · OMIM 605927

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001561-9615, 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 14.

  1. A survey on Shar Pei autoinflammatory disease in the United Kingdom. · J Small Anim Pract · 2023 · PMID 36978210
  3. Genetics of inherited skin disorders in dogs. · Vet J · 2022 · PMID 34861369

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 Shar-Pei Autoinflammatory Disease (SPAID) and see the odds for their puppies. Single dominant variant, exact Mendelian math.

Parent A
Parent B
NDAffected
NDAffected
NNUnaffected
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 Shar-Pei Autoinflammatory Disease (SPAID) looks like in your dog's breed.
At-risk frequency by breed

Top 10 well-sampled breeds (n ≥ 50)

Maximum at-risk frequency per breed across variants in the Donner 2023 cohort, with . 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%38%75%
Chinese Shar Pei67.0% · n 400
Bloodhound0.54% · n 280
Chow Chow0.16% · n 643
American Staffordshire Terrier<0.1% · n 42,793
Rottweiler<0.1% · n 4,718
Pug<0.1% · n 5,154
Bulldog Standard<0.1% · n 4,816
French Bulldog<0.1% · n 13,114
Shih Tzu<0.1% · n 7,527
Labrador Retriever<0.1% · n 16,856
n = 96,301 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 Shar-Pei Autoinflammatory Disease (SPAID) is measured; phenotype outcome depends on penetrance and modifiers.
▸ Full table with Wilson 95% confidence intervals
Breed At-risk frequency n tested
Chinese Shar Pei 67.0% 400
Bloodhound 0.54% 280
Chow Chow 0.16% 643
American Staffordshire Terrier <0.1% 42,793
Rottweiler <0.1% 4,718
Pug <0.1% 5,154
Bulldog Standard <0.1% 4,816
French Bulldog <0.1% 13,114
Shih Tzu <0.1% 7,527
Labrador Retriever <0.1% 16,856

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

Penetrance

From genotype to phenotype

For this dominant trait, a dog with even one copy is at risk, not a silent carrier. Penetrance is the fraction of at-risk dogs that actually develop the phenotype. The Donner 2023 S4 table tracks this for 1 variant(s) underlying this disease in the cohort.

At-risk dogs evaluated
4
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 at-risk frequency is measured; phenotype outcome is governed by 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:

  • 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:001561-9615.

  • 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

Related

Last updated
Sources: Sniff Atlas v1.0.1 · OMIA OMIA:001561-9615 · Donner et al. 2023