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 disorder Lysosomal lipid storage disorder
Also known as: ceroid lipofuscinoses · NCL

Subtypes

All diseases Rare only

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

Rare disease

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