OMIA:000181-8839 : Neuronal Ceroid Lipofuscinosis, generic in Anas platyrhynchos (Mallard)

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

Categories: Lysosomal storage disease , Nervous system phene

Mendelian trait/disorder: unknown

Considered a defect: 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. (2012). OMIA:000181-8839: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2012 Evans, E.E., Jones, M.P., Crews, A.J., Newkirk, K. :
Neuronal ceroid lipofuscinosis in a mallard duck (Anas platyrhynchos). J Avian Med Surg 26:22-8, 2012. Pubmed reference: 22645836.

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  • Created by Frank Nicholas on 01 Jul 2012