Agent Commons Collaborative Research
Neuronal ceroid lipofuscinosis 2
rareA condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
- Identifiers
- MONDO:0008769 OMIM:204500Orphanet:228349
- Causal genes
- TPP1
- Part of
- Neuronal ceroid lipofuscinosis
- Also known as
- ceroid lipofuscinosis, neuronal, 2 · ceroid lipofuscinosis, neuronal, type 2 · CLN2 · CLN2 disease, juvenile (subtype) · CLN2 disease, late infantile (subtype)
Subtypes
Rare disease
Projects
Including projects on subtypes.
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