loading...| Preferred Name |
FRONTOTEMPORAL DEMENTIA |
| Synonyms |
DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM |
| ID |
http://purl.bioontology.org/ontology/OMIM/600274 |
| altLabel |
DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM DDPAC MSTD FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM FRONTOTEMPORAL LOBE DEMENTIA FTDP17 MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIA FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS WILHELMSEN-LYNCH DISEASE FTD DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX PALLIDOPONTONIGRAL DEGENERATION FTLD WITH TAU INCLUSIONS PPND PICK COMPLEX FLDEM WLD |
| cui |
C0338451 C0520716 C1838313 |
| Gene Locus |
17q21.1 |
| Gene Symbol |
DDPAC MSTD MAPT MTBT1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU003271 http://purl.bioontology.org/ontology/OMIM/MTHU000764 http://purl.bioontology.org/ontology/OMIM/MTHU000539 http://purl.bioontology.org/ontology/OMIM/MTHU000781 http://purl.bioontology.org/ontology/OMIM/MTHU006528 http://purl.bioontology.org/ontology/OMIM/MTHU006526 http://purl.bioontology.org/ontology/OMIM/MTHU006538 http://purl.bioontology.org/ontology/OMIM/MTHU006536 http://purl.bioontology.org/ontology/OMIM/MTHU006534 http://purl.bioontology.org/ontology/OMIM/MTHU003268 http://purl.bioontology.org/ontology/OMIM/MTHU006532 http://purl.bioontology.org/ontology/OMIM/MTHU006531 http://purl.bioontology.org/ontology/OMIM/MTHU003631 http://purl.bioontology.org/ontology/OMIM/MTHU000780 http://purl.bioontology.org/ontology/OMIM/MTHU006539 http://purl.bioontology.org/ontology/OMIM/MTHU006529 http://purl.bioontology.org/ontology/OMIM/MTHU006527 http://purl.bioontology.org/ontology/OMIM/MTHU038375 http://purl.bioontology.org/ontology/OMIM/MTHU006535 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
168610 601630 |
| notation |
600274 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
FRONTOTEMPORAL DEMENTIA |
| Scope Statement |
Most cases do not have mutations in the MAPT gene, but map to chromosome 17q [MISCELLANEOUS] Genetic heterogeneity (see, e.g., 600795, 105550) [MISCELLANEOUS] Caused by mutation in the microtubule-associated tau protein gene (MAPT, 157140.0001) [MOLECULAR BASIS] Mean age at onset 45 years [MISCELLANEOUS] Caused by mutation in the presenilin-1 gene (PSEN1, 104311.0023) [MOLECULAR BASIS] Highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) [MISCELLANEOUS] |
| tui |
T047 |