increased cerebral lipofuscin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. (Human Phenotype Ontology, HP_0011813)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011813
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Genes

9 genes associated with the increased cerebral lipofuscin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CTSD cathepsin D
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
PPT1 palmitoyl-protein thioesterase 1
PSAP prosaposin
TPP1 tripeptidyl peptidase I