Human Gene Set: HP_INCREASED_NEURONAL_AUTOFLUORESCENT_LIPOPIGMENT


Standard name HP_INCREASED_NEURONAL_AUTOFLUORESCENT_LIPOPIGMENT
Systematic name M46068
Brief description Increased neuronal autofluorescent lipopigment
Full description or abstract 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. [https://orcid.org/0000-0002-0736-9199, PMID:11406682]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0002074
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0002074
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2026.1.Hs: Updated to HPO Release 2026-01-08.


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