Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

SUPRANUCLEAR PALSY, PROGRESSIVE, 1
Synonyms

PSP
ID

http://purl.bioontology.org/ontology/OMIM/601104
altLabel

PSP

STEELE-RICHARDSON-OLSZEWSKI SYNDROME

PSNP1
cui

C0038868

C4551863
Gene Locus

17q21.1
Gene Symbol

MTBT1

MSTD

DDPAC

MAPT
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000787

http://purl.bioontology.org/ontology/OMIM/MTHU000766

http://purl.bioontology.org/ontology/OMIM/MTHU000781

http://purl.bioontology.org/ontology/OMIM/MTHU000768

http://purl.bioontology.org/ontology/OMIM/MTHU000770

http://purl.bioontology.org/ontology/OMIM/MTHU000771

http://purl.bioontology.org/ontology/OMIM/MTHU001337

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU000782

http://purl.bioontology.org/ontology/OMIM/MTHU036378

http://purl.bioontology.org/ontology/OMIM/MTHU000765

http://purl.bioontology.org/ontology/OMIM/MTHU000778

http://purl.bioontology.org/ontology/OMIM/MTHU000772

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU006134

http://purl.bioontology.org/ontology/OMIM/MTHU000775

http://purl.bioontology.org/ontology/OMIM/MTHU000777

http://purl.bioontology.org/ontology/OMIM/MTHU000776

http://purl.bioontology.org/ontology/OMIM/MTHU001899

http://purl.bioontology.org/ontology/OMIM/MTHU000774

http://purl.bioontology.org/ontology/OMIM/MTHU000767

http://purl.bioontology.org/ontology/OMIM/MTHU000785

http://purl.bioontology.org/ontology/OMIM/MTHU000301

http://purl.bioontology.org/ontology/OMIM/MTHU000786

http://purl.bioontology.org/ontology/OMIM/MTHU000769

http://purl.bioontology.org/ontology/OMIM/MTHU000764

http://purl.bioontology.org/ontology/OMIM/MTHU000779

http://purl.bioontology.org/ontology/OMIM/MTHU006135
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

601104
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SUPRANUCLEAR PALSY, PROGRESSIVE, 1
Scope Statement

Phenotypic overlap with frontotemporal dementia (600274) [MISCELLANEOUS]

May show good response to levodopa [MISCELLANEOUS]

Average age at onset 66 years although earlier onset may occur [MISCELLANEOUS]

Caused by mutation in the microtubule-associated protein tau gene (MAPT, 157140.0019) [MOLECULAR BASIS]

Median survival 5.7 years [MISCELLANEOUS]

Associated with the tau (157140) H1 haplotype [MISCELLANEOUS]

Autosomal dominant with incomplete penetrance [MISCELLANEOUS]

Genetic heterogeneity (see PSNP2 609454) [MISCELLANEOUS]
tui

T047
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