neuronal ceroid lipofuscinosis 1
Findings
No curated finding names neuronal ceroid lipofuscinosis 1 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 PPT1 gene, encoding palmitoyl-protein thioesterase 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:0009744), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
5 features
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 palmitoyl-protein thioesterase activityHPOHP:6000783
- 5 of 5 reported patients
- Vascular granular osmiophilic material depositionHPOHP:0003657
- 16 of 16 reported patients
- Psychomotor deteriorationHPOHP:0002361
- 15 of 16 reported patients
- SeizureHPOHP:0001250
- 9 of 16 reported patients
- Vacuolated lymphocytesHPOHP:0001922
- 0 of 12 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.
- PPT1HGNC:9325
- Definitive · Myriad Women's Health · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
11 names
Resolves to: neuronal ceroid lipofuscinosis 1
- Also called
- ceroid lipofuscinosis neuronal 1ceroid lipofuscinosis, neuronal, 1ceroid lipofuscinosis, neuronal, 1, variable Age at onsetceroid lipofuscinosis, neuronal, type 1ceroid storage diseaseCLN1CLN1 diseaseCLN1 variable age at onsetneuronal ceroid lipofuscinosis caused by mutation in PPT1neuronal ceroid lipofuscinosis type 1PPT1 neuronal ceroid lipofuscinosis