neuronal ceroid lipofuscinosis 3

Summary
Synonym
  • Batten disease
  • CLN3
  • juvenile neuronal ceroid lipofuscinosis
Definition
A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.
Super Class
autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
Disease Ontology
DOID:0110731
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
47 ACLY ATP citrate lyase
1203 CLN5 CLN5 intracellular trafficking protein
2571 GAD1 glutamate decarboxylase 1
2572 GAD2 glutamate decarboxylase 2
3956 LGALS1 galectin 1
5310 PKD1 polycystin 1, transient receptor potential channel interacting
5538 PPT1 palmitoyl-protein thioesterase 1
5660 PSAP prosaposin
7957 EPM2A EPM2A glucan phosphatase, laforin
9374 PPT2 palmitoyl-protein thioesterase 2
The Human Phenotype Ontology
Displaying entries 11 - 20 of 40 in total
HPO ID HPO Term
HP:0000975 Hyperhidrosis
HP:0001129 Large central visual field defect
HP:0001250 Seizure
HP:0001272 Cerebellar atrophy
HP:0001300 Parkinsonism
HP:0001348 Brisk reflexes
HP:0001627 Abnormal heart morphology
HP:0001649 Tachycardia
HP:0002015 Dysphagia
HP:0002059 Cerebral atrophy
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