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 11 - 14 of 14 in total
Gene ID Gene Symbol Description Source
29979 UBQLN1 ubiquilin 1
54209 TREM2 triggering receptor expressed on myeloid cells 2
56893 UBQLN4 ubiquilin 4
120892 LRRK2 leucine rich repeat kinase 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 11 - 20 of 50 in total
HPO ID HPO Term
HP:0002145 Frontotemporal dementia
HP:0002185 Neurofibrillary tangles
HP:0002186 Apraxia
HP:0002300 Mutism
HP:0002354 Memory impairment
HP:0002366 Abnormal lower motor neuron morphology
HP:0002381 Aphasia
HP:0002427 Expressive aphasia
HP:0002446 Astrocytosis
HP:0002500 Abnormal cerebral white matter morphology
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