Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/600274
http://purl.bioontology.org/ontology/OMIM/600274
Preferred Name

FRONTOTEMPORAL DEMENTIA
Synonyms
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
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Type http://www.w3.org/2002/07/owl#Class

All Properties

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
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prefLabel
FRONTOTEMPORAL DEMENTIA
Gene Symbol
MTBT1
MSTD
DDPAC
MAPT
notation
600274
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]
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OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
Moved from
168610
601630
type
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
http://purl.bioontology.org/ontology/OMIM/MTHU006527
http://purl.bioontology.org/ontology/OMIM/MTHU006534
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
17q21.1
tui
T047
cui
C1838313
C0520716
C0338451
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