What is the human equivalent of Ehlers-Danlos Syndrome (Discovered in the Chihuahua and Poodle)?

OMIA links Ehlers-Danlos Syndrome (Discovered in the Chihuahua and Poodle) to its human counterpart in OMIM (OMIM 606408), the bridge to the deeper human-medicine literature for the same underlying biology.

Canine Mendelian disease record

Ehlers-Danlos Syndrome (Discovered in the Chihuahua and Poodle)

Q: How well studied is Ehlers-Danlos Syndrome (Discovered in the Chihuahua and Poodle) in dogs?

OMIA curates 4 peer-reviewed references for Ehlers-Danlos Syndrome (Discovered in the Chihuahua and Poodle). The full, linked citation list is on this page.

Ehlers-Danlos Syndrome (Discovered in the Chihuahua and Poodle). Autosomal recessive. Observed in 9 of 211 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 12,296 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:002203-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human Ehlers-Danlos syndrome due to tenascin-X deficiency

This is the canine counterpart of Ehlers-Danlos syndrome due to tenascin-X deficiency 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 humans it is also called: EDSCLL, classical-like EDS, classical-like Ehlers-Danlos syndrome, clEDS, EDS due to TNX deficiency.

MONDO:0011670 OMIM 606408

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). 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

This phene has been renamed from "Ehlers-Danlos syndrome, classic-like, 1" to "classic-like Ehlers-Danlos syndrome (clEDS), TNXB-related" in OMIA on the basis of the review on human Ehlers-Danlos syndromes by Malfait et al. (2020) [2/6/2022].

Clinical features

Bauer et al. (2019): "The dog was referred because of fragile skin that teared or bruised easily even from minor injuries, leading to severe wounds that healed poorly. According to the owner, the skin fragility had been present since the dog was a puppy. At the time of examination, the dog was 21 months old and appeared in a good general health condition. Neither wounds nor scars were present, but the skin was hyperextensible".

Molecular genetics

Bauer et al. (2019) reported an affected mixed-breed dog that is a compound heterozygote for two potentially causal recessive TNXB variants: c.2012G>A; p.(Ser671Asn) and c.2900G>A; p.(Gly967Asp). The authors state “Given that this is a single case investigation and that we have no functional confirmation of a tenascin XB deficiency, this result must be considered preliminary and should be interpreted with caution.”

Prevalence

As reported by Bauer et al. (2019): "Although one of the variant alleles, XM_003431680.3:c.2012G>A, p.(Ser671Asn), was private to the family of the affected dog and absent from whole-genome sequencing data of 599 control dogs, the second variant allele, XM_003431680.3:c.2900G>A, p.(Gly967Asp), is present at a low frequency in the Chihuahua and Poodle population." Pathogenicity of both variants is questionable.

Inheritance

As reported by Bauer et al. (2019): "Each variant allele was transmitted from one of the case’s parents, consistent with compound heterozygosity."

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 606408 Gene · OMIM 600985

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:002203-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

Signs & cross-references

How it presents

Catalogued in the Mondo disease ontology (the cross-species disease identity used by the Monarch Initiative) as Ehlers-Danlos syndrome due to tenascin-X deficiency (MONDO:0011670).

Phenotype terms: Human Phenotype Ontology + Mammalian Phenotype Ontology; disease terms: Mondo (Monarch Initiative). Cross-references curated by OMIA (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.

Animal models of Ehlers-Danlos syndromes: Phenotype, pathogenesis, and translational potential. · Front Genet · 2021 · PMID 34712265
Connective tissue disorders in domestic animals. · Adv Exp Med Biol · 2021 · PMID 34807427
The Ehlers-Danlos syndromes. · Nat Rev Dis Primers · 2020 · PMID 32732924
Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. · Anim Genet · 2019 · PMID 31365140

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 Ehlers-Danlos Syndrome (Discovered in the Chihuahua and Poodle) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A

Parent B

NNClear

NmCarrier

mmAffected

Clear25%

Carrier50%

Affected25%

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 Ehlers-Danlos Syndrome (Discovered in the Chihuahua and Poodle) looks like in your dog's breed.

Carrier frequency by breed

Top 5 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.

0%10%20%

Chihuahua9.8% · n 143

9.8%n 143

Pomeranian4.5% · n 121

4.5%n 121

German Shorthaired Pointer2.3% · n 65

2.3%n 65

Danish Swedish Farmdog0.82% · n 61

0.82%n 61

Shih Tzu0.59% · n 85

0.59%n 85

n = 475 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 Ehlers-Danlos Syndrome (Discovered in the Chihuahua and Poodle) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Chihuahua	9.8%	[5.9%, 15.8%]	143
Pomeranian	4.5%	[2.0%, 9.9%]	121
German Shorthaired Pointer	2.3%	[0.5%, 9.4%]	65
Danish Swedish Farmdog	0.82%	[0.1%, 7.4%]	61
Shih Tzu	0.59%	[0.1%, 5.4%]	85

▸ Also observed in 4 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	Wilson 95% CI	n tested
Miniature Pinscher	50.0%	[5.5%, 94.5%]	1
German Pinscher	38.5%	[17.7%, 64.5%]	13
Poodle Toy	6.3%	[2.1%, 16.8%]	48
Chinese Crested	1.5%	[0.2%, 12.6%]	34

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

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 carrier 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:002203-9615.
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:002203-9615, 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:002203-9615 · Donner et al. 2023