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 81 - 90 of 113 in total
HPO ID HPO Term
HP:0002500 Abnormal cerebral white matter morphology
HP:0002505 Loss of ambulation
HP:0002876 Episodic tachypnea
HP:0003739 Myoclonic spasms
HP:0005324 Disturbance of facial expression
HP:0007010 Poor fine motor coordination
HP:0007064 Progressive language deterioration
HP:0007183 Focal T2 hyperintense basal ganglia lesion
HP:0007256 Abnormal pyramidal sign
HP:0007360 Aplasia/Hypoplasia of the cerebellum
Displaying 1 entry
Gene ID Gene Symbol Description
5538 PPT1 palmitoyl-protein thioesterase 1

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024