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MAPT

microtubule associated protein tau

HCNC Approved Symbol
MAPT (HGNC:6893)
Genomic Coordinates
17:45,894,554 - 46,028,334 (17q21.31)
Synonyms
MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103, tau-40, Tau-PHF6, DDPAC, MAPTL
Disease Associations
This gene is associated with the following 5 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
{Parkinson disease, susceptibility to}
168600AD; Multifactorial
Dementia, frontotemporal, with or without parkinsonism
600274AD
Pick disease
172700AD
Supranuclear palsy, progressive
601104AD
Supranuclear palsy, progressive atypical
260540AR

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the MAPT gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Expressionless face
 1 (50.0%)
Intention tremor
 1 (50.0%)
Muscle weakness
 1 (50.0%)
Progressive dementia
 1 (50.0%)
Lack of facial expression
 1 (50.0%)