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 51 - 60 of 113 in total
HPO ID HPO Term
HP:0011209 EEG with generalized slow activity grade 4
HP:0012379 Abnormal circulating enzyme concentration or activity
HP:0000529 Progressive visual loss
HP:0000543 Optic disc pallor
HP:0000550 Undetectable electroretinogram
HP:0000580 Pigmentary retinopathy
HP:0000712 Emotional lability
HP:0000716 Depression
HP:0000975 Hyperhidrosis
HP:0001129 Large central visual field defect
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