OMIA:000181 : Neuronal Ceroid Lipofuscinosis, generic

Categories: Lysosomal storage disease

Links to MONDO diseases: No links.

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. The disease has been described in humans (at least seven different variants), mice, dogs (English Setter, Border collie, Golden retriever, Australian cattle dog, Saluki, Chihuahua, Tibetian terier, Dachshund, and Miniature Schnauzer), Siamese cats, cattle (Beefmaster, Devon), Nubian goats, and sheep (South Hampshire, Rambouillet, Swedish Landrace, Merino) [Imke Tammen 21 Jan 2002].

Species in which this phene is found:
Mallard (Anas platyrhynchos)
crab-eating macaque (Macaca fascicularis)
dog (Canis lupus familiaris)
domestic ferret (Mustela putorius furo)
domestic cat (Felis catus)
horse (Equus caballus)
pig (Sus scrofa)
cattle (Bos taurus)
goat (Capra hircus)
sheep (Ovis aries)
peach-faced lovebird (Agapornis roseicollis)

Edit History

  • Created by Izmira Ismail on 29 Feb 2008
  • Changed by Frank Nicholas on 20 Oct 2011
  • Changed by Frank Nicholas on 14 Feb 2012
  • Changed by Imke Tammen2 on 24 Sep 2021