increased neuronal autofluorescent lipopigment Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. (Human Phenotype Ontology, HP_0002074)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002074
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Genes

8 genes associated with the increased neuronal autofluorescent lipopigment 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
TPP1 tripeptidyl peptidase I