Human Phenotype
Ontology
Grandparent Node: Morphological central nervous system abnormality (HP:0002011) Parent Node: Atrophy/Degeneration affecting the central nervous system (HP:0007367) ..Starting node Increased cerebral lipofuscin (HP:0011813)
Term ID: 11813
Name: Increased cerebral lipofuscin
Synonym:
Definition: 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.
Comments:
Reference: HP:0011813
Genes and Diseases: Child Nodes: ........Increased neuronal autofluorescent lipopigment (HP:0002074) ........Increased extraneuronal autofluorescent lipopigment (HP:0003463) Sister Nodes: ..Atrophy/Degeneration affecting the brainstem (HP:0007366) ..Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) ..Atrophy/Degeneration involving the spinal cord (HP:0007344) ..Brain atrophy (HP:0012444) ..Central nervous system degeneration (HP:0007009) ..Motor neuron atrophy (HP:0007373) ..Neurodegeneration (HP:0002180) ..Neuronal loss in central nervous system (HP:0002529) ..Senile plaques (HP:0100256) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0011813 HP:0011813 Increased cerebral lipofuscin 0 CLN3 CL E G H 1201 2074 OMIM:204200 Ceroid lipofuscinosis, neuronal, 3 216 HP:0011813 HP:0011813 Increased cerebral lipofuscin 0 CLN5 CL E G H 1203 2076 OMIM:256731 Ceroid lipofuscinosis, neuronal, 5 141 HP:0011813 HP:0011813 Increased cerebral lipofuscin 0 CLN6 CL E G H 54982 2077 OMIM:204300 Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive 143 HP:0011813 HP:0011813 Increased cerebral lipofuscin 0 CLN6 CL E G H 54982 2077 OMIM:601780 Ceroid lipofuscinosis, neuronal, 6 143 HP:0011813 HP:0011813 Increased cerebral lipofuscin 0 CLN8 CL E G H 2055 2079 OMIM:600143 Ceroid lipofuscinosis, neuronal, 8 111 HP:0011813 HP:0011813 Increased cerebral lipofuscin 0 CLN8 CL E G H 2055 2079 OMIM:610003 Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 111 HP:0011813 HP:0011813 Increased cerebral lipofuscin 0 CTSD CL E G H 1509 2529 OMIM:610127 Ceroid lipofuscinosis, neuronal, 10 159 HP:0011813 HP:0011813 Increased cerebral lipofuscin 0 DNAJC5 CL E G H 80331 16235 OMIM:162350 Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant 155 HP:0011813 HP:0011813 Increased cerebral lipofuscin 0 PPT1 CL E G H 5538 9325 OMIM:256730 Ceroid lipofuscinosis, neuronal, 1 172 HP:0011813 HP:0011813 Increased cerebral lipofuscin 0 PSAP CL E G H 5660 9498 OMIM:610539 Gaucher disease, atypical . 81 HP:0011813 HP:0011813 Increased cerebral lipofuscin 0 TARS2 CL E G H 80222 30740 OMIM:615918 Combined oxidative phosphorylation deficiency 21 28 HP:0011813 HP:0011813 Increased cerebral lipofuscin 0 TPP1 CL E G H 1200 2073 OMIM:204500 Ceroid lipofuscinosis, neuronal, 2 203 HP:0011813 HP:0003463 Increased extraneuronal autofluorescent lipopigment 1 CLN3 CL E G H 1201 2074 OMIM:204200 Ceroid lipofuscinosis, neuronal, 3 . 216 HP:0011813 HP:0002074 Increased neuronal autofluorescent lipopigment 1 CLN3 CL E G H 1201 2074 OMIM:204200 Ceroid lipofuscinosis, neuronal, 3 . 216 HP:0011813 HP:0002074 Increased neuronal autofluorescent lipopigment 1 CLN5 CL E G H 1203 2076 OMIM:256731 Ceroid lipofuscinosis, neuronal, 5 . 141 HP:0011813 HP:0002074 Increased neuronal autofluorescent lipopigment 1 CLN6 CL E G H 54982 2077 OMIM:204300 Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive . 143 HP:0011813 HP:0002074 Increased neuronal autofluorescent lipopigment 1 CLN6 CL E G H 54982 2077 OMIM:601780 Ceroid lipofuscinosis, neuronal, 6 . 143 HP:0011813 HP:0002074 Increased neuronal autofluorescent lipopigment 1 CLN8 CL E G H 2055 2079 OMIM:600143 Ceroid lipofuscinosis, neuronal, 8 . 111 HP:0011813 HP:0002074 Increased neuronal autofluorescent lipopigment 1 CLN8 CL E G H 2055 2079 OMIM:610003 Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant . 111 HP:0011813 HP:0002074 Increased neuronal autofluorescent lipopigment 1 CTSD CL E G H 1509 2529 OMIM:610127 Ceroid lipofuscinosis, neuronal, 10 . 159 HP:0011813 HP:0002074 Increased neuronal autofluorescent lipopigment 1 DNAJC5 CL E G H 80331 16235 OMIM:162350 Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant . 155 HP:0011813 HP:0002074 Increased neuronal autofluorescent lipopigment 1 PPT1 CL E G H 5538 9325 OMIM:256730 Ceroid lipofuscinosis, neuronal, 1 . 172 HP:0011813 HP:0003463 Increased extraneuronal autofluorescent lipopigment 1 TPP1 CL E G H 1200 2073 OMIM:204500 Ceroid lipofuscinosis, neuronal, 2 . 203 HP:0011813 HP:0002074 Increased neuronal autofluorescent lipopigment 1 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.
