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OMIA:000181-9823 : Neuronal Ceroid Lipofuscinosis, generic in Sus scrofa (pig)

In other species: Mallard , crab-eating macaque , dog , domestic ferret , domestic cat , horse , taurine cattle , goat , sheep , peach-faced lovebird

Categories: Lysosomal storage disease , Nervous system phene

Single-gene trait/disorder: unknown

Disease-related: yes

Cross-species summary: The neuronal ceroid lipofuscinoses (NCLs) are a heterogenous group of inherited neurodegenerative diseases characterised by brain and retinal atrophy and the accumulation of autofluorescent lipopigment in neurons and many other cells within the body. Clinical features of NCL are abnormal behavior, dementia, loss of vision, motor disturbances and seizures, and premature death. See also gene specific entries including OMIA:001504 (PPT1-related), OMIA:001472 (TPP1-related), OMIA:002432 (CLN3-related), OMIA:001482 (CLN5-related), OMIA:001443 (CLN6-related), OMIA:001962 (CLN7/MFSD8-related), OMIA:001506 (CLN8-related), OMIA:001505 (CTSD10-related) and OMIA:001552 (ATP13A2-related).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2009). OMIA:000181-9823: 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.

2013 Bond, M., Holthaus, S.M., Tammen, I., Tear, G., Russell, C. :
Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040. DOI: 10.1016/j.bbadis.2013.01.009.
2006 Cesta, MF., Mozzachio, K., Little, PB., Olby, NJ., Sills, RC., Brown, TT. :
Neuronal ceroid lipofuscinosis in a Vietnamese pot-bellied pig (Sus scrofa). Vet Pathol 43:556-60, 2006. Pubmed reference: 16847000. DOI: 10.1354/vp.43-4-556.

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  • Created by Frank Nicholas on 01 Dec 2009