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 11 - 20 of 52 in total
HPO ID HPO Term
HP:0000733 Motor stereotypy
HP:0000738 Hallucinations
HP:0000739 Anxiety
HP:0000744 Low frustration tolerance
HP:0000750 Delayed speech and language development
HP:0000752 Hyperactivity
HP:0001250 Seizure
HP:0001251 Ataxia
HP:0001257 Spasticity
HP:0001268 Mental deterioration
Displaying 1 entry
Gene ID Gene Symbol Description
5538 PPT1 palmitoyl-protein thioesterase 1

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


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Last updated: August 19, 2024