Preferred Name |
FRONTOTEMPORAL DEMENTIA |
|
Synonyms |
FTDP17 |
|
ID |
http://purl.bioontology.org/ontology/OMIM/600274 |
|
altLabel |
FTDP17 DDPAC FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS PALLIDOPONTONIGRAL DEGENERATION DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM WILHELMSEN-LYNCH DISEASE MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIA FRONTOTEMPORAL LOBE DEMENTIA MSTD PPND FTLD WITH TAU INCLUSIONS FLDEM FTD DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM WLD PICK COMPLEX |
|
cui |
C1838313 C0520716 C0338451 |
|
Gene Locus |
17q21.1 |
|
Gene Symbol |
MTBT1 MSTD DDPAC MAPT |
|
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000781 http://purl.bioontology.org/ontology/OMIM/MTHU006531 http://purl.bioontology.org/ontology/OMIM/MTHU003268 http://purl.bioontology.org/ontology/OMIM/MTHU000780 http://purl.bioontology.org/ontology/OMIM/MTHU000539 http://purl.bioontology.org/ontology/OMIM/MTHU006526 http://purl.bioontology.org/ontology/OMIM/MTHU038375 http://purl.bioontology.org/ontology/OMIM/MTHU006529 http://purl.bioontology.org/ontology/OMIM/MTHU006539 http://purl.bioontology.org/ontology/OMIM/MTHU003631 http://purl.bioontology.org/ontology/OMIM/MTHU006538 http://purl.bioontology.org/ontology/OMIM/MTHU006533 http://purl.bioontology.org/ontology/OMIM/MTHU000764 http://purl.bioontology.org/ontology/OMIM/MTHU003271 http://purl.bioontology.org/ontology/OMIM/MTHU006537 http://purl.bioontology.org/ontology/OMIM/MTHU006536 http://purl.bioontology.org/ontology/OMIM/MTHU006535 http://purl.bioontology.org/ontology/OMIM/MTHU006532 http://purl.bioontology.org/ontology/OMIM/MTHU006528 |
|
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 |
Caused by mutation in the microtubule-associated tau protein gene (MAPT, 157140.0001) [MOLECULAR BASIS] Highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) [MISCELLANEOUS] Caused by mutation in the presenilin-1 gene (PSEN1, 104311.0023) [MOLECULAR BASIS] Mean age at onset 45 years [MISCELLANEOUS] Genetic heterogeneity (see, e.g., 600795, 105550) [MISCELLANEOUS] Most cases do not have mutations in the MAPT gene, but map to chromosome 17q [MISCELLANEOUS] |
|
tui |
T047 |