frontotemporal dementia

Summary
Synonym
  • Wilhemsen-Lynch disease
  • frontotemporal lobar degeneration
  • multiple system tauopathy with presenile dementia
  • pallidopontonigral degeneration
Definition
A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.
Super Class
brain disease dementia
Related Genes
Displaying entries 1 - 10 of 14 in total
Gene ID Gene Symbol Description Source
2130 EWSR1 EWS RNA binding protein 1
2521 FUS FUS RNA binding protein
2896 GRN granulin precursor
4137 MAPT microtubule associated protein tau
4747 NEFL neurofilament light chain
7415 VCP valosin containing protein
23435 TARDBP TAR DNA binding protein
25825 BACE2 beta-secretase 2
25978 CHMP2B charged multivesicular body protein 2B
29978 UBQLN2 ubiquilin 2
Displaying all 10 entries
Gene ID Gene Symbol Description Source
14030 Ewsr1 Ewing sarcoma breakpoint region 1
14824 Grn granulin
17758 Map4 microtubule-associated protein 4
17762 Mapt microtubule-associated protein tau
18039 Nefl neurofilament, light polypeptide
54609 Ubqln2 ubiquilin 2
56175 Bace2 beta-site APP-cleaving enzyme 2
83433 Trem2 triggering receptor expressed on myeloid cells 2
94232 Ubqln4 ubiquilin 4
233908 Fus fused in sarcoma
Displaying all 4 entries
Gene ID Gene Symbol Description Source
29143 Grn granulin precursor
83613 Nefl neurofilament light chain
288227 Bace2 beta-secretase 2
317396 Ubqln2 ubiquilin 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
40260 Psn Presenilin
Displaying all 4 entries
Gene ID Gene Symbol Description Source Organism
380307 bace2.L beta-secretase 2 L homeolog Xenopus laevis (African clawed frog)
398806 bace2.S beta-secretase 2 S homeolog Xenopus laevis (African clawed frog)
399258 psen1.L presenilin 1 L homeolog Xenopus laevis (African clawed frog)
100216145 bace2 beta-secretase 2 Xenopus tropicalis (tropical clawed frog)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
850812 YPS3 aspartyl protease
851950 YPS7 putative aspartic endopeptidase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 50 in total
HPO ID HPO Term
HP:0000474 Thickened nuchal skin fold
HP:0000708 Atypical behavior
HP:0000711 Restlessness
HP:0000716 Depression
HP:0000739 Anxiety
HP:0000751 Personality changes
HP:0001268 Mental deterioration
HP:0001297 Stroke
HP:0001300 Parkinsonism
HP:0002071 Abnormality of extrapyramidal motor function
Displaying 1 entry
Gene ID Gene Symbol Description
7415 VCP valosin containing protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024