OMIA:000402-8790 : Gangliosidosis, GM1 in Dromaius novaehollandiae (emu) |
In other species: dog , domestic cat , taurine cattle , sheep
Categories: Lysosomal storage disease , Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 230500 (trait) , 230650 (trait) , 230600 (trait) , 253010 (trait) , 611458 (gene)
Mendelian trait/disorder: unknown
Disease-related: unknown
Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of GM1 gangliosides (a type of glycolipid) in various tissues, due to the lack of the enzyme beta-galactosidase, whose task is to break down the GM1 ganglioside into its constituents. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.
Species-specific description: Redundant, retained for data consistency. Information previously listed here has been merged with OMIA:000401-8790 : Gangliosidosis, generic in Dromaius novaehollandiae (emu).
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000402-8790: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Imke Tammen2 on 19 Jun 2024