Details of Disease | DrugMAP

General Information of Disease (ID: DISEARF8)

Disease Name	Progressive supranuclear palsy-parkinsonism syndrome
Synonyms	progressive supranuclear palsy atypical; Parkinson-dementia syndrome; supranuclear palsy, progressive, 1, atypical; Steele-Richardson-Olszewski syndrome, atypical; atypical PSP; supranuclear palsy, progressive atypical; PSP-p; PSP-parkinsonism
Definition	PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.
Disease Hierarchy	DISH8SHC: Atypical progressive supranuclear palsy syndrome DISEARF8: Progressive supranuclear palsy-parkinsonism syndrome
Disease Identifiers	MONDO ID MONDO_0009839 MESH ID C537240 UMLS CUI C1850077 OMIM ID 260540 MedGen ID 342410 Orphanet ID 240085

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MAPT	TTS87KH	Limited	Genetic Variation	[1]
MAPT	TTXZCO0	Moderate	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAPT	OTMTP2Z7	Moderate	Autosomal recessive	[2]
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References

1	Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy.Mov Disord. 2007 Apr 30;22(6):895-7. doi: 10.1002/mds.21393.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.