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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
Related Genes
| 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:0001347 | Hyperreflexia |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002371 | Loss of speech |
| HP:0002380 | Fasciculations |
| HP:0002442 | Dyscalculia |
| HP:0002465 | Poor speech |
| HP:0002493 | Upper motor neuron dysfunction |
| HP:0010522 | Dyslexia |
| HP:0010529 | Echolalia |
| HP:0012671 | Abulia |
