OMIA:003012-9913 : Dwarfism, primordial disproportionate with craniofacial dysmorphism, PDGFRA-related in Bos taurus (taurine cattle) |
Categories: Skeleton phene (incl. short stature & teeth) , Growth / size / body region phene , Craniofacial phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 173490 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2025
Molecular basis: Jacinto et al. (2025) investigated a Holstein calf with primordial disproportionate dwarfism and craniofacial dysmorphism using a whole genome sequencing approach: "A heterozygous pathogenic missense variant in exon 12 of PDGFRA [Chr6:g.69749162 T > C; c.1685 T > C; p.Ile562Thr; omia.variant:1841], which replaces residue 562, was found and might be due to a spontaneous de novo mutation. However, due to the lack of parental DNA, we could not prove this."
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 |
|---|---|---|---|---|---|---|
| PDGFRA | platelet derived growth factor receptor alpha | Bos taurus | 6 | NC_037333.1 (69723776..69771549) | PDGFRA | 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 | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1841 | Holstein Friesian (Cattle) | Dwarfism, primordial disproportionate and craniofacial dysmorphism | PDGFRA | substitution | missense | Naturally occurring variant | Not currently evaluated | ARS-UCD1.3 | 6 | NC_037333.1:g.69749162T>C | NM_001192345.2:c.1685T>C | NP_001179274.1:p.(I562T) | 2025 | 40999323 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:003012-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Jacinto, J., Letko, A., Gentile, A., Otter, A., Floyd, T., Collins, R., Richey, M., Carty, H., Scholes, S., Jones, A., Fuller, H., Häfliger, I.M., Strugnell, B., Studer, E., Benazzi, C., Bolcato, M., Starič, J., Diana, A., Weber, J., Freick, M., Lühken, G., Tammen, I., Kraft, D.C.E., Lindgren, C.M., Sickinger, M., Soto, S., O'Rourke, B.A., Agerholm, J.S., Drögemüller, C. : |
| Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification. Genet Sel Evol 57:51, 2025. Pubmed reference: 40999323. DOI: 10.1186/s12711-025-01002-z. |
Edit History
- Created by Imke Tammen2 on 09 Oct 2025
- Changed by Imke Tammen2 on 10 Oct 2025