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 91 - 100 of 113 in total
HPO ID HPO Term
HP:0007987 Progressive visual field defects
HP:0010536 Central sleep apnea
HP:0011951 Aspiration pneumonia
HP:0012444 Brain atrophy
HP:0012692 Focal T2 hyperintense thalamic lesion
HP:0100543 Cognitive impairment
HP:0001252 Hypotonia
HP:0005484 Secondary microcephaly
HP:0000648 Optic atrophy
HP:0002361 Psychomotor deterioration
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