OMIA:003006-9615 : Cholesteryl ester storage disease in Canis lupus familiaris (dog) |
Categories: Lysosomal storage disease
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 278000 (trait) , 613497 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: unknown
Disease-related: yes
Cross-species summary: Cholesterol ester storage disease (CESD) due to lysosomal acid lipase (LIPA) deficiency.
Breed:
Field Spaniel (Dog) (VBO_0200519).
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).
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:003006-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Syrjä, P., Ylenius, M.M.H., Kråkström, M., Dickens, A.M., Rautala, E., Huupponen, A., Eriksson, A., Viitanen, S.J. : |
| Cholesterol ester storage disease in two Field Spaniels with lysosomal acid lipase deficiency. J Vet Intern Med 39:e70223, 2025. Pubmed reference: 40859629. DOI: 10.1111/jvim.70223. |
Edit History
- Created by Imke Tammen2 on 10 Sep 2025
- Changed by Imke Tammen2 on 10 Sep 2025