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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
External Links
- Disease Ontology
- DOID:9255
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| 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 |
| 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 |
| 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) |
- The Human Phenotype Ontology
| 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 |
