OMIA:000578-9544 : Krabbe disease in Macaca mulatta (Rhesus monkey) |
In other species: dog , domestic cat , sheep
Categories: Lysosomal storage disease
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 245200 (trait) , 606890 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 1997
Cross-species summary: Also known as globoid cell leukodystrophy (GLD), galactosylceramide lipidosis, galactocerebrosidase deficiency, GALC deficiency, globoid cell leukoencephalopathy, galactosylceramide beta-galactosidase deficiency. A lysosomal storage disease in which there is a buildup (storage) of myelin, due to the lack of the enzyme galactosylceramidase (galactocerebrosidase), whose task is to break down myelin into its constituent molecules. Characterised by weakness progressing to paralysis.
Molecular basis: The gene for galactocerebrosidase (GALC) in rhesus monkeys was cloned and characterised by Luzi et al. (1997), who also showed that Krabbe disease in this species is due to a dinucleotide deletion in cDNA positions 387 and 388, resulting in a frame shift and a consequent stop codon after 46 nucleotides.
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| GALC | galactosylceramidase | Macaca mulatta | 7 | NC_041760.1 (150104678..150047244) | GALC | Homologene, 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 | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 517 | Krabbe disease | GALC | deletion, small (<=20) | Naturally occurring variant | c.387delAC | 1997 | 9192853 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2018). OMIA:000578-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2022 | Hordeaux, J., Jeffrey, B.A., Jian, J., Choudhury, G.R., Michalson, K., Mitchell, T.W., Buza, E.L., Chichester, J., Dyer, C., Bagel, J., Vite, C.H., Bradbury, A.M., Wilson, J.M. : |
| Efficacy and safety of a Krabbe disease gene therapy. Hum Gene Ther 33:499-517, 2022. Pubmed reference: 35333110. DOI: 10.1089/hum.2021.245. | |
| 2016 | Bongarzone, E.R., Escolar, M.L., Gray, S.J., Kafri, T., Vite, C.H., Sands, M.S. : |
| Insights into the pathogenesis and treatment of Krabbe disease. Pediatr Endocrinol Rev 13 Suppl 1:689-96, 2016. Pubmed reference: 27491217. | |
| 2015 | Graziano, A.C., Cardile, V. : |
| History, genetic, and recent advances on Krabbe disease. Gene 555:2-13, 2015. Pubmed reference: 25260228. DOI: 10.1016/j.gene.2014.09.046. | |
| 1998 | Baskin, G.B., Ratterree, M., Davison, B.B., Falkenstein, K.P., Clarke, M.R., England, J.D., Vanier, M.T., Luzi, P., Rafi, M.A., Wenger, D.A. : |
| Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, krabbe-disease) in rhesus monkeys (macaca mulatta) Laboratory Animal Science 48:476-482, 1998. Pubmed reference: 10090061. | |
| 1997 | Luzi, P., Rafi, M.A., Victoria, T., Baskin, G.B., Wenger, D.A. : |
| Characterization of the rhesus monkey galactocerebrosidase (galc) cdna and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate Genomics 42:319-324, 1997. Pubmed reference: 9192853. DOI: 10.1006/geno.1997.4744. |
Edit History
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 12 Oct 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 12 Mar 2018