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Neuronal ceroid lipofuscinosis

rare

A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.

Identifiers
MONDO:0016295 Orphanet:216
Part of
Inherited neurodegenerative disorderLysosomal lipid storage disorder
Also known as
ceroid lipofuscinoses · NCL

Subtypes

All diseases Rare only
Disease Subtypes
  1. Juvenile neuronal ceroid lipofuscinosis MONDO:0019262 8
  2. Adult neuronal ceroid lipofuscinosis MONDO:0019260 5
  3. Neuronal ceroid lipofuscinosis 1 MONDO:0009744 PPT1 4
  4. Neuronal ceroid lipofuscinosis 10 MONDO:0012414 CTSD 3
  5. Neuronal ceroid lipofuscinosis 2 MONDO:0008769 TPP1 3
  6. Neuronal ceroid lipofuscinosis 5 MONDO:0009745 CLN5 3
  7. Ceroid lipofuscinosis, neuronal, 6A MONDO:0011144 CLN6 2
  8. Infantile neuronal ceroid lipofuscinosis MONDO:0019261 2
  9. Neuronal ceroid lipofuscinosis 3 MONDO:0008767 CLN3 2
  10. Neuronal ceroid lipofuscinosis 8 MONDO:0010830 CLN8 2
  11. Ceroid lipofuscinosis, neuronal, 6B (Kufs type) MONDO:0008768 CLN6
  12. Congenital neuronal ceroid lipofuscinosis MONDO:0850001
  13. Neuronal ceroid lipofuscinosis 15 MONDO:0030947 CLCN6
  14. Neuronal ceroid lipofuscinosis 7 MONDO:0012588 MFSD8
  15. Progressive myoclonic epilepsy type 3 MONDO:0012721 KCTD7

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