neuronal ceroid lipofuscinosis 11

Summary
Synonym
  • CLN11
Definition
A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q.
Super Class
autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
Disease Ontology
DOID:0110732
Mondo Disease Ontology
ORDO
OMIM
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 1 - 10 of 21 in total
HPO ID HPO Term
HP:0001268 Mental deterioration
HP:0003208 Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
HP:0000726 Dementia
HP:0010536 Central sleep apnea
HP:0002071 Abnormality of extrapyramidal motor function
HP:0000572 Visual loss
HP:0002333 Motor deterioration
HP:0001251 Ataxia
HP:0007256 Abnormal pyramidal sign
HP:0001337 Tremor
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