OMIA:000405-9823 : Gaucher disease, generic in Sus scrofa |
Categories: Lysosomal storage disease
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 230800 (trait) , 608013 (trait) , 230900 (trait) , 231000 (trait) , 231005 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of glucocerebroside in various tissues, due to the lack of the enzyme beta-glucocerebrosidase, whose task is to break down glucococerebroside into its constituent molecules. The buildup is associated with large foamy macrophages (Gaucher's cells). This phene has been renamed from 'Gaucher disease, type I' to 'Gaucher disease, generic'. Entries for specific types will be created (9/02/2023).
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2017). OMIA:000405-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 1970 | Sandison, A.J., Anderson, L.J. : |
| Histocytosis of two pigs and a cow. Conditions resembling lipid storage diseases in man Journal of Pathology 100:207-210, 1970. Pubmed reference: 5464116 . DOI: 10.1002/path.1711000310. |
Edit History
- Created by Frank Nicholas on 17 Oct 2017