OMIA:000640-9615 : Menkes disease in Canis lupus familiaris (dog) |
In other species: sheep
Categories: Liver/biliary system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 309400 (trait) , 300011 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: X-linked recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Species summary: See also 'OMIA:002608-9615 Modifier of copper toxicosis, ATP7A-related' in Canis lupus familiaris' for ATP7A variants protective of copper accumulation.
Molecular basis: Fulton et al. (2026): "Whole genome sequencing [of an affected Cavalier King Charles Spaniel] identified a private hemizygous SINE-like insertion into the ATP7A gene, at the end of intron 13, near the start of exon 14 [omia.variant:1923]."
Clinical features: Fulton et al. (2026): "A 7-month-old intact male Cavalier King Charles Spaniel was presented for persistent glucosuria despite normoglycemia, failure to thrive, chronic diarrhea, and cerebellar ataxia."
Breed:
Cavalier King Charles Spaniel (Dog) (VBO_0200309).
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 |
|---|---|---|---|---|---|---|
| ATP7A | ATPase, Cu++ transporting, alpha polypeptide | Canis lupus familiaris | X | NC_051843.1 (61442067..61595242) | ATP7A | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1923 | Cavalier King Charles Spaniel (Dog) | Menkes disease | ATP7A | insertion, gross (>20) | splicing | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | X | NC_049260.1:g.60446488_60446489insN[223] | XM_038587767.1:c.2404-3_-2insN[223] | 2026 | 42685339 |
* 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:000640-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Fulton, E.A., Schwarz, C., Jagannathan, V., Leeb, T., Gutierrez-Quintana, R. : |
| A SINE-like insertion in intron 13 of the ATP7A gene is associated with a mild form of Menkes-like disease in a Cavalier King Charles Spaniel. J Vet Intern Med 40:aalag200, 2026. Pubmed reference: 42685339. DOI: 10.1093/jvimsj/aalag200. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 14 Feb 2012
- Changed by Frank Nicholas on 25 Oct 2016
- Changed by Imke Tammen on 10 Jan 2023
- Changed by Imke Tammen on 16 Oct 2023
- Changed by Imke Tammen on 04 Sep 2026