Term ID: 2074
Name: Increased neuronal autofluorescent lipopigment
Synonym: Neuronal lipopigments
Definition: 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.
Comments:
Reference: HP:0002074
Genes and Diseases: Child Nodes: Sister Nodes: ..Increased extraneuronal autofluorescent lipopigment (HP:0003463) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0002074 HP:0002074 Increased neuronal autofluorescent lipopigment 0 CLN3 CL E G H 1201 2074 OMIM:204200 Ceroid lipofuscinosis, neuronal, 3 . 216 HP:0002074 HP:0002074 Increased neuronal autofluorescent lipopigment 0 CLN5 CL E G H 1203 2076 OMIM:256731 Ceroid lipofuscinosis, neuronal, 5 . 141 HP:0002074 HP:0002074 Increased neuronal autofluorescent lipopigment 0 CLN6 CL E G H 54982 2077 OMIM:204300 Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive . 143 HP:0002074 HP:0002074 Increased neuronal autofluorescent lipopigment 0 CLN6 CL E G H 54982 2077 OMIM:601780 Ceroid lipofuscinosis, neuronal, 6 . 143 HP:0002074 HP:0002074 Increased neuronal autofluorescent lipopigment 0 CLN8 CL E G H 2055 2079 OMIM:600143 Ceroid lipofuscinosis, neuronal, 8 . 111 HP:0002074 HP:0002074 Increased neuronal autofluorescent lipopigment 0 CLN8 CL E G H 2055 2079 OMIM:610003 Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant . 111 HP:0002074 HP:0002074 Increased neuronal autofluorescent lipopigment 0 CTSD CL E G H 1509 2529 OMIM:610127 Ceroid lipofuscinosis, neuronal, 10 . 159 HP:0002074 HP:0002074 Increased neuronal autofluorescent lipopigment 0 DNAJC5 CL E G H 80331 16235 OMIM:162350 Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant . 155 HP:0002074 HP:0002074 Increased neuronal autofluorescent lipopigment 0 PPT1 CL E G H 5538 9325 OMIM:256730 Ceroid lipofuscinosis, neuronal, 1 . 172 HP:0002074 HP:0002074 Increased neuronal autofluorescent lipopigment 0 TPP1 CL E G H 1200 2073 OMIM:204500 Ceroid lipofuscinosis, neuronal, 2 . 203
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
