neuronal ceroid lipofuscinosis 1

Summary
Synonym
  • CLN1
  • neuronal ceroid lipofuscinosis 1 variable age of onset
Definition
A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.
Super Class
autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
Disease Ontology
DOID:0110721
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 13 of 13 in total
Gene ID Gene Symbol Description Source
7957 EPM2A EPM2A glucan phosphatase, laforin
9374 PPT2 palmitoyl-protein thioesterase 2
22901 ARSG arylsulfatase G
The Human Phenotype Ontology
Displaying entries 71 - 80 of 113 in total
HPO ID HPO Term
HP:0002072 Chorea
HP:0002074 Increased neuronal autofluorescent lipopigment
HP:0002104 Apnea
HP:0002120 Cerebral cortical atrophy
HP:0002197 Generalized-onset seizure
HP:0002275 Poor motor coordination
HP:0002312 Clumsiness
HP:0002317 Unsteady gait
HP:0002376 Developmental regression
HP:0002421 Poor head control
Displaying 1 entry
Gene ID Gene Symbol Description
5538 PPT1 palmitoyl-protein thioesterase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024