neuronal ceroid lipofuscinosis 7

Summary
Synonym
  • CLN7
Definition
A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28.
Super Class
autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
Disease Ontology
DOID:0110722
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 41 - 50 of 52 in total
HPO ID HPO Term
HP:0007663 Reduced visual acuity
HP:0008770 Obsessive-compulsive trait
HP:0010819 Atonic seizure
HP:0010841 Multifocal epileptiform discharges
HP:0010845 EEG with generalized slow activity
HP:0010850 EEG with spike-wave complexes
HP:0010852 EEG with photoparoxysmal response
HP:0011147 Typical absence seizure
HP:0011167 Focal tonic seizure
HP:0011194 EEG with series of focal spikes
Displaying 1 entry
Gene ID Gene Symbol Description
5538 PPT1 palmitoyl-protein thioesterase 1

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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