Details of Disease

General Information of Disease (ID: DISASEYE)

Disease Name	Multiple system atrophy
Synonyms	susceptibility to multiple system atrophy 1; Shy-dragger syndrome (formerly); autonomic failure, Pure; hypotension, orthostatic; Shy-Drager syndrome; multisystem atrophy; MSA
Disease Class	8D87: Autonomic nervous system disorder
Definition	Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.
Disease Hierarchy	DISOJJ2D: Movement disorder DISFEF6X: Synucleinopathy DISASEYE: Multiple system atrophy
ICD Code	ICD-11 ICD-11: 8D87.0 Expand ICD-11 '8D87.0 Expand ICD-10 'G10-G14; 'G13; 'G13.2; 'G13.8
Disease Identifiers	MONDO ID MONDO_0007803 MESH ID D019578 UMLS CUI C0393571 MedGen ID 98276 Orphanet ID 102 SNOMED CT ID 230297002

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 4 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
TAK-341	DM6D30Q	Phase 2	Antibody	[1]
ION464	DMZAQS8	Phase 1	Antisense oligonucleotide	[2]
NPT200-11	DMFDBV5	Phase 1	Small molecular drug	[3]
TEV-56286	DMOKMNC	Phase 1	NA	[4]
------------------------------------------------------------------------------------

This Disease is Treated as An Indication in 1 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
NGN-9077	DM6FN9J	Investigative	NA	[5]
------------------------------------------------------------------------------------

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
LRRK2	TTK0FEA	Limited	Biomarker	[6]
SNCA	TT08OSU	Strong	Altered Expression	[7]
------------------------------------------------------------------------------------

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COQ2	OTDAKEY4	Moderate	Autosomal recessive	[8]
APTX	OTPAS5G8	Strong	Biomarker	[9]
ELOVL7	OT89NYVC	Strong	Genetic Variation	[10]
FBXO47	OTMAOLX2	Strong	Genetic Variation	[10]
PPP1R1B	OTSIJMQ9	Strong	Biomarker	[11]
------------------------------------------------------------------------------------

References

1	ClinicalTrials.gov (NCT05526391) A Randomized, Double-blind, Placebo-Controlled, Phase 2 Study to Evaluate the Efficacy, Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intravenous TAK-341 in Subjects With Multiple System Atrophy. U.S.National Institutes of Health.
2	ClinicalTrials.gov (NCT04165486) A Phase 1 Study to Assess the Safety, Tolerability, and Pharmacokinetics of ION464 Administered Intrathecally to Adults With Multiple System Atrophy. U.S.National Institutes of Health.
3	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
4	ClinicalTrials.gov (NCT05532358) An Open-Label, One-Sequence, Two-Part Drug-Drug Interaction Study in Healthy Volunteers to Assess the CYP1A2 and CYP3A4 Perpetrator Interaction Potential and CYP1A2 Victim Potential of TEV-56286 (anle138b). U.S.National Institutes of Health.
5	The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
6	LRRK2 and parkin immunoreactivity in multiple system atrophy inclusions.Acta Neuropathol. 2008 Dec;116(6):639-46. doi: 10.1007/s00401-008-0446-3. Epub 2008 Oct 21.
7	Microglial activation mediates neurodegeneration related to oligodendroglial alpha-synucleinopathy: implications for multiple system atrophy.Mov Disord. 2007 Nov 15;22(15):2196-203. doi: 10.1002/mds.21671.
8	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.
9	Aprataxin (APTX) gene mutations resembling multiple system atrophy.Parkinsonism Relat Disord. 2007 Apr;13(3):139-42. doi: 10.1016/j.parkreldis.2006.08.010. Epub 2006 Oct 27.
10	A genome-wide association study in multiple system atrophy.Neurology. 2016 Oct 11;87(15):1591-1598. doi: 10.1212/WNL.0000000000003221. Epub 2016 Sep 14.
11	Anti-DARPP32 antibody-immunopositive inclusions in the brain of patients with multiple system atrophy.Clin Neuropathol. 2008 Sep-Oct;27(5):309-16. doi: 10.5414/npp27309.