neuronal ceroid lipofuscinosis 5

Summary
Synonym
  • CLN5
  • neuronal ceroid lipofuscinosis 5 variable age of onset
Definition
A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.
Super Class
autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
Disease Ontology
DOID:0110728
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
Displaying 1 entry
Gene ID Gene Symbol Description Source
211286 Cln5 ceroid-lipofuscinosis, neuronal 5
The Human Phenotype Ontology
Displaying entries 1 - 10 of 52 in total
HPO ID HPO Term
HP:0000483 Astigmatism
HP:0000545 Myopia
HP:0000546 Retinal degeneration
HP:0000572 Visual loss
HP:0000618 Blindness
HP:0000649 Abnormality of visual evoked potentials
HP:0000708 Atypical behavior
HP:0000718 Aggressive behavior
HP:0000726 Dementia
HP:0000729 Autistic behavior
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