neuronal ceroid lipofuscinosis 2
Findings
No curated finding names neuronal ceroid lipofuscinosis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A 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.
Definition from the Mondo Disease Ontology (MONDO:0008769), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Reduced tissue tripeptidyl peptidase 1 activityHPOHP:6000571
- 2 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TPP1HGNC:2073
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: neuronal ceroid lipofuscinosis 2
- Also called
- ceroid lipofuscinosis, neuronal, type 2CLN2neuronal ceroid lipofuscinosis caused by mutation in TPP1neuronal ceroid lipofuscinosis type 2TPP1 neuronal ceroid lipofuscinosis