Details of Disease

General Information of Disease (ID: DIS47BVM)

Disease Name Supranuclear palsy, progressive, 1
Synonyms
PSNP1; Steele-Richardson-Olszewski disease; Steele-Richardson-Olszewski syndrome; supranuclear palsy, progressive, 1; supranuclear palsy, progressive, type 1; classic PSP syndrome; PSP; Richardson syndrome; supranuclear palsy, progressive; classic progressive supranuclear palsy syndrome
Definition
Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.
Disease Hierarchy
DISO5KRQ: Progressive supranuclear palsy
DIS47BVM: Supranuclear palsy, progressive, 1
Disease Identifiers
MONDO ID
MONDO_0010997
MESH ID
D013494
UMLS CUI
C4551863
OMIM ID
601104
MedGen ID
1640811
Orphanet ID
240071

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MAPT TTS87KH Limited Biomarker [1]
EIF2AK3 TT79U1M Strong Biomarker [2]
MAPT TTXZCO0 Strong Autosomal dominant [3]
MOBP TTYUK4F Strong Biomarker [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MAPT OTMTP2Z7 Strong Autosomal dominant [3]
SRSF2 OTVDHO6U Strong Biomarker [1]
STX6 OTC5F5M6 Strong Biomarker [2]
TRA2B OTZYQW52 Strong Biomarker [1]
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References

1 Mitochondrial complex 1 inhibition increases 4-repeat isoform tau by SRSF2 upregulation.PLoS One. 2014 Nov 17;9(11):e113070. doi: 10.1371/journal.pone.0113070. eCollection 2014.
2 Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859.
3 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.