OMIA:003072-9913 : Polysynovitis, HYAL1-related in Bos taurus (taurine cattle) |
Categories: Skeleton phene (incl. short stature & teeth) , Limbs / fins / digit / tail phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607071 (gene) , 601492 (trait)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Inheritance: Vasiljevic et al. (2026) investigated hoof and leg conformation traits in Swiss Holstein and Brown Swiss dairy cattle: "A nonsense variant in HYAL1 (NP_001017941.1:p.(Gln93*)) [omia.variant:1920] showed a significant recessive effect on bone structure in HO [Holstein cattle] (P = 1.62 × 10–17). The harmful allele was observed predominantly in HO at 4.4% in Swiss and 8.4% in French HO."
Clinical features: Vasiljevic et al. (2026): "Clinically, all animals [homozygous for the HYAL1 Gln93* variant] exhibited hock enlargement bilaterally involving multiple joints, including the tibio-tarsal, proximal intertarsal, distal intertarsal, and tarsometatarsal joints ... . Ultrasonography of the affected joints revealed abundant anechogenic content within the joint cavities in all animals, consistent with synovial effusion. ... In the French HO population, HYAL1 homozygotes exhibited reduced longevity and consistent detrimental effects across various production and conformation traits, including impaired LOC [locomotion], adverse rear-leg conformation, and decreased milk production."
Breed:
Holstein Friesian (Cattle) (VBO_0000239).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| HYAL1 | hyaluronidase 1 | Bos taurus | 22 | NC_037349.1 (50029843..50032902) | HYAL1 | Ensembl, NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1920 | Holstein Friesian (Cattle) | Polysynovitis | HYAL1 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently evaluated | ARS-UCD1.3 | 22 | NC_037349.1:50030758C>T | NM_001017941.1:c.277C>T | NP_001017941.1:p.(Q93*) | rs207559077 | 2026 | 42402550 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003072-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Vasiljevic, S., Seefried, F.R., Widmer, S., Kadri, N.K., Leonard, A.S., He, Q., Pausch, H., Besnard, F., Capitan, A., Drögemüller, C., Jacinto, J. : |
| Genomic dissection of hoof and leg conformation in Swiss dairy cattle populations reveals polygenic architecture and a recessive HYAL1 nonsense variant affecting longevity in Holstein cattle. Genet Sel Evol 58:46, 2026. Pubmed reference: 42402550. DOI: 10.1186/s12711-026-01068-3. |
Edit History
- Created by Imke Tammen on 31 Aug 2026
- Changed by Imke Tammen on 31 Aug 2026