MSA1
MCID: MLT157
MIFTS: 71

Multiple System Atrophy 1 (MSA1)

Categories: Blood diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Multiple System Atrophy 1

MalaCards integrated aliases for Multiple System Atrophy 1:

Name: Multiple System Atrophy 1 57 74 38
Multiple System Atrophy 57 12 75 53 25 54 59 37 55 44 15 17 72
Shy-Drager Syndrome 12 75 25 54 29 6 44 72
Msa 53 25 59
Sporadic Olivopontocerebellar Atrophy 25 72
Msa1 57 74
Progressive Autonomic Failure with Multiple System Atrophy 25
Multiple System Atrophy 1, Susceptibility to 57
Multiple System Atrophy, Susceptibility to 57
Msa1, Susceptibility to 57
Multisystem Atrophy 59
Opca 25
Sds 25

Characteristics:

Orphanet epidemiological data:

59
multiple system atrophy
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Worldwide),1-5/10000 (Japan); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable phenotype
progressive disorder
onset in middle age
poor response to l-dopa treatment
heterozygous, homozygous, and compound heterozygous coq2 mutations have been identified


HPO:

32
multiple system atrophy 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance sporadic
Onset and clinical course progressive adult onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:4752
OMIM 57 146500
KEGG 37 H01614
SNOMED-CT 68 16576004
MESH via Orphanet 45 D019578
ICD10 via Orphanet 34 G90.3
UMLS via Orphanet 73 C0393571
Orphanet 59 ORPHA102
UMLS 72 C0037019 C0393571 C2919194

Summaries for Multiple System Atrophy 1

NIH Rare Diseases : 53 Multiple system atrophy (MSA) causes the progressive loss of nerve cells in the brain (a neurodegenerative disease). MSA affects several areas of the brain, including the cerebellum, which is involved in controlling movement and some emotions, as well as certain types of learning and memory, and the autonomic nervous system, which controls your body's automatic, or regulating functions, such as blood pressure, digestion and temperature.The initial symptoms of MSA start around age 50, and are very similar to the initial symptoms of Parkinson's disease. These symptoms may include slowness of movement, tremor, or rigidity (stiffness), clumsiness or coordination problems, difficulties with speech, orthostatic hypotension (a condition in which blood pressure drops when rising from a seated or lying down position), and bladder control problems. Other symptoms of MSA may include muscle contractures, abnormal posture, bending of the neck, involuntary sighing, trouble sleeping and emotional problems. As MSA progresses, breathing problems while sleeping (sleep apnea) and irregular heart rhythms may develop. MSA may be divided in 2 subtypes, depending on the main symptoms at the time when a person with MSA is evaluated: the parkinsonian type (MSA-P), which have Parkinson disease-like symptoms, such as moving slowly, stiffness, and tremor, along with problems of balance, coordination, and autonomic nervous system dysfunction the cerebellar type (MSA-C), with primary symptoms of cerebellar ataxia (cerebellum is the part of the brain that is responsible for movement coordination) such as problems with balance and coordination, difficulty swallowing and speaking, and abnormal eye movements The cause of MSA is unknown, although environmental toxins, trauma, and genetic factors may be involved. Most cases occur at random, without any other cases in the family. Diagnosis of MSA is suggested by a combination of symptoms, physical examination, lab test results, and response to certain medications. However, no laboratory or imaging studies are able to confirm the diagnosis. Treatment may include medication, physical, occupational, and speech therapy, and nutritional support. There is no cure for MSA, and there is no known way to prevent the disease from getting worse. The goal of treatment is to control symptoms. Most people with MSA survive between 6-15 years after symptoms first begin.

MalaCards based summary : Multiple System Atrophy 1, also known as multiple system atrophy, is related to striatonigral degeneration and semantic dementia. An important gene associated with Multiple System Atrophy 1 is COQ2 (Coenzyme Q2, Polyprenyltransferase), and among its related pathways/superpathways are Ubiquinone and other terpenoid-quinone biosynthesis and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Acetylcholine and Iodine have been mentioned in the context of this disorder. Affiliated tissues include Limb and Bone, and related phenotypes are dysarthria and constipation

Genetics Home Reference : 25 Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. The autonomic nervous system controls body functions that are mostly involuntary, such as regulation of blood pressure. The most frequent autonomic symptoms associated with multiple system atrophy are a sudden drop in blood pressure upon standing (orthostatic hypotension), urinary difficulties, and erectile dysfunction in men. Researchers have described two major types of multiple system atrophy, which are distinguished by their major signs and symptoms at the time of diagnosis. In one type, known as MSA-P, a group of movement abnormalities called parkinsonism are predominant. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). The other type of multiple system atrophy, known as MSA-C, is characterized by cerebellar ataxia, which causes problems with coordination and balance. This form of the condition can also include speech difficulties (dysarthria) and problems controlling eye movement. Multiple system atrophy usually occurs in older adults; on average, signs and symptoms appear around age 55. The condition worsens with time, and affected individuals survive an average of 10 years after the signs and symptoms first appear.

OMIM : 57 Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions (GCIs) that consist of abnormally phosphorylated alpha-synuclein (SNCA; 163890) or tau (MAPT; 157140) (Gilman et al., 1998; Gilman et al., 2008; Scholz et al., 2009). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by The Multiple-System Atrophy Research Collaboration, 2013). MSA is similar clinically and pathologically to Parkinson disease (PD; 168600) and Lewy body dementia (127750). See also PARK1 (168601), which is specifically caused by mutation in the SNCA gene. Pure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear (Vanderhaeghen et al., 1970; Schatz, 1996). (146500)

NINDS : 54 Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. MSA affects both men and women primarily in their 50s.  Although what causes MSA is unknown, the disorder's symptoms reflect the loss of nerve cells in several different areas in the brain and spinal cord that control the autonomic nervous system and coordinate muscle movements.  The loss of nerve cells may be due to the buildup of a protein called alpha-synuclein in the cells that support nerve cells in the brain.

KEGG : 37
Multiple system atrophy (MSA) is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. MSA encompasses striatonigral degeneration, olivopontocerebellar atrophy, and Shy-Drager syndrome, which were originally described as independent clinicopathological entities. The coexistence was detected later, and these conditions were regarded as nosologically allied. The disease is characterized by the accumulation of alpha-synuclein fibrils in oligodendrocytes that form glial cytoplasmic inclusions (GCI), a neuropathological hallmark and central player in the pathogenesis of MSA. Although MSA is widely considered to be a nongenetic disorder, genetic mutations of the COQ2 gene have been linked to MSA as identified in Japanese families.

UniProtKB/Swiss-Prot : 74 Multiple system atrophy 1: A progressive neurodegenerative disorder clinically characterized by parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Pathologically, it is characterized by degeneration of striatonigral and olivopontocerebellar structures, and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein or tau.

Wikipedia : 75 Multiple system atrophy (MSA) is a rare neurodegenerative disorder characterized by autonomic... more...

Related Diseases for Multiple System Atrophy 1

Diseases related to Multiple System Atrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 838)
# Related Disease Score Top Affiliating Genes
1 striatonigral degeneration 33.1 SNCA SLC6A3 DRD2
2 semantic dementia 32.8 RPS27A MAPT
3 pure autonomic failure 32.7 TH SNCA DBH
4 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 32.1 RPS27A MAPT
5 aceruloplasminemia 30.9 SNCA GFAP COQ2 ATXN1
6 corticobasal degeneration 30.8 RPS27A MAPT LRRK2
7 behavioral variant of frontotemporal dementia 30.5 SQSTM1 MAPT
8 rem sleep behavior disorder 30.5 SNCA SLC6A3 RPS27A LRRK2
9 ideomotor apraxia 30.5 MBP MAPT
10 dementia, lewy body 30.4 TH SNCB SNCA SLC6A3 RPS27A PRKN
11 essential tremor 30.4 SNCA SLC6A3 PRKN LRRK2
12 perry syndrome 30.1 TH SNCA SLC6A3
13 dystonia 29.9 TH SQSTM1 SLC6A3 PRKN DRD2
14 stuttering 29.9 SLC6A3 DRD2 DBH
15 attention deficit-hyperactivity disorder 29.8 TH SLC6A3 DRD2 DBH
16 supranuclear palsy, progressive, 1 29.8 TH SNCA SLC6A3 RPS27A PRKN MAPT
17 cocaine dependence 29.8 SLC6A3 DRD2 DBH
18 pick disease of brain 29.7 SQSTM1 SNCA RPS27A MAPT
19 movement disease 29.6 TH SNCA SLC6A3 PRKN MAPT LRRK2
20 tremor 29.6 SNCA PRKN MAPT LRRK2
21 motor neuron disease 29.5 SQSTM1 SNCA RPS27A MAPT
22 huntington disease 29.4 SQSTM1 SNCA DRD2 ATXN1
23 traumatic brain injury 29.4 MBP GFAP DRD2
24 brain injury 29.3 MBP MAPT GFAP DRD2
25 machado-joseph disease 29.3 SNCA SLC6A3 RPS27A ATXN1
26 primary cerebellar degeneration 29.3 RPS27A GLUD1 ATXN1
27 frontotemporal dementia 29.2 SQSTM1 SNCA RPS27A MAPT LRRK2
28 parkinson disease, late-onset 29.0 TH SNCB SNCA SLC6A3 PRKN MAPT
29 leukoencephalopathy, hereditary diffuse, with spheroids 29.0 SNCA RPS27A MAPT GFAP
30 alzheimer disease 28.7 SQSTM1 SNCB SNCA MAPT GFAP
31 dementia 28.7 SQSTM1 SNCB SNCA SLC6A3 PRKN MAPT
32 amyotrophic lateral sclerosis 1 28.1 TH SQSTM1 SNCA RPS27A MAPT GFAP
33 nervous system disease 27.7 TH SNCA SLC6A3 PRKN MBP MAPT
34 central nervous system disease 27.4 TH SNCA SLC6A3 PRKN MBP MAPT
35 multiple system atrophy with orthostatic hypotension 12.5
36 multiple system atrophy, parkinsonian type 12.5
37 multiple system atrophy, cerebellar type 12.5
38 shwachman-diamond syndrome 1 12.2
39 salla disease 11.9
40 trichohepatoenteric syndrome 1 11.9
41 olivopontocerebellar atrophy 11.8
42 seborrheic dermatitis 11.7
43 autonomic dysfunction 11.7
44 dysautonomia 11.6
45 spinocerebellar ataxia 7 11.6
46 myopathy, lactic acidosis, and sideroblastic anemia 1 11.5
47 spinocerebellar degeneration 11.4
48 primary orthostatic hypotension 11.4
49 autonomic nervous system disease 11.4
50 olivopontocerebellar atrophy v 11.4

Graphical network of the top 20 diseases related to Multiple System Atrophy 1:



Diseases related to Multiple System Atrophy 1

Symptoms & Phenotypes for Multiple System Atrophy 1

Human phenotypes related to Multiple System Atrophy 1:

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
2 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
3 abnormal pyramidal sign 59 32 frequent (33%) Frequent (79-30%) HP:0007256
4 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
5 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
6 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
7 postural tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002174
8 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
9 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
10 stridor 59 32 frequent (33%) Frequent (79-30%) HP:0010307
11 orthostatic hypotension due to autonomic dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0004926
12 parkinsonism 59 32 frequent (33%) Frequent (79-30%) HP:0001300
13 raynaud phenomenon 59 32 frequent (33%) Frequent (79-30%) HP:0030880
14 postural instability 59 32 frequent (33%) Frequent (79-30%) HP:0002172
15 abnormal brain fdg positron emission tomography 59 32 frequent (33%) Frequent (79-30%) HP:0012658
16 orofacial dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002310
17 gaze-evoked nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000640
18 resting tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002322
19 autonomic bladder dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0005341
20 central sleep apnea 59 32 frequent (33%) Frequent (79-30%) HP:0010536
21 abnormal rapid eye movement sleep 59 32 frequent (33%) Frequent (79-30%) HP:0002494
22 axial dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0002530
23 autonomic erectile dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0008652
24 orthostatic syncope 59 32 frequent (33%) Frequent (79-30%) HP:0012670
25 female anorgasmia 59 32 frequent (33%) Frequent (79-30%) HP:0030015
26 camptocormia 59 32 frequent (33%) Frequent (79-30%) HP:0100595
27 cognitive impairment 32 occasional (7.5%) HP:0100543
28 ptosis 32 HP:0000508
29 ataxia 32 HP:0001251
30 tremor 32 HP:0001337
31 hyperreflexia 32 HP:0001347
32 dysautonomia 59 Frequent (79-30%)
33 skeletal muscle atrophy 32 HP:0003202
34 hypohidrosis 32 HP:0000966
35 babinski sign 32 HP:0003487
36 neurodegeneration 32 HP:0002180
37 urinary urgency 32 HP:0000012
38 urinary incontinence 32 HP:0000020
39 anhidrosis 32 HP:0000970
40 impotence 32 HP:0000802
41 orthostatic hypotension 32 HP:0001278
42 olivopontocerebellar atrophy 32 HP:0002542
43 iris atrophy 32 HP:0001089

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
tremor
hyperreflexia
rigidity
bradykinesia
more
Cardiovascular Vascular:
orthostatic hypotension

Genitourinary External Genitalia Male:
erectile dysfunction

Genitourinary Bladder:
urinary urgency
urinary incontinence
incomplete bladder emptying

Head And Neck Eyes:
gaze-evoked nystagmus
extraocular movement difficulties

Skin Nails Hair Skin:
decreased sweating

Clinical features from OMIM:

146500

MGI Mouse Phenotypes related to Multiple System Atrophy 1:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.29 ATXN1 DBH DRD2 GFAP LRRK2 MAPT
2 homeostasis/metabolism MP:0005376 10.28 ATXN1 DBH DRD2 GFAP GLUD1 LRRK2
3 growth/size/body region MP:0005378 10.27 ATXN1 DBH DRD2 GFAP GLUD1 MAPT
4 mortality/aging MP:0010768 10.21 ATXN1 COQ2 DBH DRD2 GFAP LRRK2
5 cellular MP:0005384 10.18 DRD2 GFAP LRRK2 MAPT MBP PRKN
6 nervous system MP:0003631 10.13 ATXN1 DBH DRD2 GFAP LRRK2 MAPT
7 cardiovascular system MP:0005385 10.1 DBH DRD2 GFAP LRRK2 MAPT PRKN
8 integument MP:0010771 10.06 DBH DRD2 LRRK2 MAPT PRKN SLC6A3
9 normal MP:0002873 9.9 DBH DRD2 GFAP LRRK2 MAPT MBP
10 no phenotypic analysis MP:0003012 9.8 DRD2 LRRK2 MAPT PRKN SNCA SNCB
11 skeleton MP:0005390 9.65 ATXN1 COQ2 DBH DRD2 LRRK2 PRKN
12 taste/olfaction MP:0005394 8.92 DRD2 MAPT SLC6A3 SNCA

Drugs & Therapeutics for Multiple System Atrophy 1

Drugs for Multiple System Atrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 239)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2
Iodine Approved, Investigational Phase 4 7553-56-2 807
3
Midodrine Approved Phase 4 133163-28-7, 42794-76-3 4195
4 Neuromuscular Agents Phase 4
5 abobotulinumtoxinA Phase 4
6 Acetylcholine Release Inhibitors Phase 4
7 Botulinum Toxins Phase 4
8 Botulinum Toxins, Type A Phase 4
9 Pharmaceutical Solutions Phase 4
10 Calamus Phase 4
11 cadexomer iodine Phase 4
12 Neurotransmitter Agents Phase 4
13 Peripheral Nervous System Agents Phase 4
14 Autonomic Agents Phase 4
15 Sympathomimetics Phase 4
16 Adrenergic Agonists Phase 4
17 Adrenergic alpha-Agonists Phase 4
18 Adrenergic Agents Phase 4
19 Vasoconstrictor Agents Phase 4
20
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
21
Norepinephrine Approved Phase 3 51-41-2 439260
22
Cisplatin Approved Phase 2, Phase 3 15663-27-1 84093 441203 2767
23
nivolumab Approved Phase 2, Phase 3 946414-94-4
24
Droxidopa Approved, Investigational Phase 3 23651-95-8 443940
25
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
26
Levodopa Approved Phase 3 59-92-7 6047
27
Carbidopa Approved Phase 3 28860-95-9 34359
28
Metoclopramide Approved, Investigational Phase 3 364-62-5 4168
29
Methyldopa Approved Phase 3 555-30-6 38853
30
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
31
Rifampicin Approved Phase 3 13292-46-1 5381226 5458213
32
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
33
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
34
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
35
Epigallocatechin Experimental, Investigational Phase 3 970-74-1 72277
36
Epigallocatechin gallate Investigational Phase 3 989-51-5 65064
37 Cardiotonic Agents Phase 3
38 Antineoplastic Agents, Immunological Phase 2, Phase 3
39 Antiparkinson Agents Phase 3
40 Antiemetics Phase 3
41 Gastrointestinal Agents Phase 3
42 Dopamine Antagonists Phase 3
43 Dopamine Agents Phase 3
44 Atomoxetine Hydrochloride Phase 3
45 Neurotransmitter Uptake Inhibitors Phase 3
46 Sympatholytics Phase 3
47 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
48 Adrenergic alpha-2 Receptor Agonists Phase 3
49 alpha-methyltyrosine Phase 3
50 Dopamine D2 Receptor Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 124)
# Name Status NCT ID Phase Drugs
1 The Use of Toxin Botulinum A Toxin in Patients With Parkinson's Disease and Multiple System Disease, Affected by Refractory Detrusor Overactivity. Unknown status NCT00822913 Phase 4 Intravesical injection of Botulinum A toxin
2 A Multi-Center, Double-Blind, Randomized, Placebo-Controlled, Crossover Study to Assess the Clinical Benefit of Midodrine Hydrochloride in Patients With Neurogenic Orthostatic Hypotension Completed NCT00046475 Phase 4 Midodrine Hydrochloride
3 RESTORE: A Clinical Study of Patients With Symptomatic Neurogenic Orthostatic Hypotension to Assess Sustained Effects of Droxidopa Therapy Recruiting NCT02586623 Phase 4 Droxidopa capsules;Placebo capsules
4 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
5 A Phase IV, Multi-Center, Double-Blind, Parallel Group, Randomized, Placebo-Controlled Study to Assess the Clinical Benefit of Three Doses of Midodrine Hydrochloride (ProAmatine®) in Subjects With Neurogenic Orthostatic Hypotension Terminated NCT00046163 Phase 4 midodrine hydrochloride (ProAmatine®)
6 Evaluate the Long-term (3 Months) Efficacy of L-threo DOPS (DroxiDopa) on Orthostatic Hypotension Symptoms and Other Non-motor Symptoms in Patients With Multiple System Atrophy (MSA). Comparative Study Versus Placebo Unknown status NCT02071459 Phase 2, Phase 3 L-Threo DOPS;placebo
7 An Open-label Study, to Assess the Long-term Safety and Clinical Benefit of Droxidopa in Subjects With PAF, Dopamine Beta Hydroxylase Deficiency or Non-diabetic Neuropathy and Symptomatic Neurogenic Orthostatic Hypotension Completed NCT00738062 Phase 3 Droxidopa;Placebo
8 Phase III, Multi-Center, Study to Assess the Clinical Effect of Droxidopa in Subjects With Primary Autonomic Failure, Dopamine Beta Hydroxylase Deficiency or Non-Diabetic Neuropathy and Symptomatic NOH Completed NCT00633880 Phase 3 Placebo;Droxidopa
9 Phase III, Multi-Center, Study to Assess the Clinical Effect of Droxidopa in Subjects With Primary Autonomic Failure, Dopamine Beta Hydroxylase Deficiency or Non-Diabetic Neuropathy and Symptomatic NOH Completed NCT00782340 Phase 3 Placebo;Droxidopa
10 A Multi-center, Double-blind, Randomized, Parallel-Group, Placebo-Controlled Study to Assess the Clinical Effect of Droxidopa in the Treatment of Symptomatic Neurogenic Orthostatic Hypotension in Patients With Parkinson's Disease Completed NCT01176240 Phase 3 Droxidopa
11 Double-blind, Randomised, Placebo-controlled Parallel Group Study to Investigate the Effect of EGCG Supplementation on Disease Progression of Patients With Multiple System Atrophy (MSA) Completed NCT02008721 Phase 3 EGCG as putative neuroprotective agent;Placebo
12 Double-Blind, Randomised, Two-Armed Study for the Evaluation of Efficacy and Safety of Minocycline for Treatment Completed NCT00146809 Phase 3 Minocyline
13 A Randomized, Double-Blind, Placebo-Controlled, Parallel- Group Study to Evaluate the Efficacy and Safety of BHV-3241 in Subjects With Multiple System Atrophy Recruiting NCT03952806 Phase 3 Verdiperstat;Placebo
14 Gut Microbiota Alteration and Improvement of Ataxia in Patients of Multiple System Atrophy Treating With Tllsh2910 - a Randomized, Placebo-controlled, Double-blinded, Cross-over, Single-center Clinical Trial Recruiting NCT03901638 Phase 3 Tllsh2910;Placebo
15 A Phase 3, 4-week, Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel-group Study of TD-9855 in Treating Symptomatic Neurogenic Orthostatic Hypotension in Subjects With Primary Autonomic Failure Recruiting NCT03750552 Phase 3 ampreloxetine;Placebo
16 A Phase II/III Randomized Study of Maintenance Nivolumab Versus Observation in Patients With Locally Advanced, Intermediate Risk HPV Positive OPCA Recruiting NCT03811015 Phase 2, Phase 3 Cisplatin
17 Treatment of Hypotensive Patients Having a Unique Pattern of Autonomic Symptoms Enrolling by invitation NCT00581477 Phase 3 droxidopa;placebo;alpha-methyldopa;carbidopa;metyrosine;levodopa;atomoxetine;metoclopramide
18 A Clinical Study of Patients With Symptomatic Neurogenic Orthostatic Hypotension to Assess Sustained Effects of Droxidopa Therapy Terminated NCT01927055 Phase 3 Droxidopa;Placebo
19 Double-Blind, Placebo-Controlled Study of Rifampicin in Multiple System Atrophy Terminated NCT01287221 Phase 3 Rifampicin;placebo
20 Phase 3 Study of Riluzole in Multiple System Atrophy (MSA) and Progressive Supranuclear Palsy (PSP) (Parkinson's Plus Syndromes) Terminated NCT00211224 Phase 3 Riluzole
21 A Phase II, Randomised, Placebo-Controlled, Double-Blind, Replicated Crossover, Pilot Study on the Effect of Fipamezole on Neurogenic Orthostatic Hypotension in Patients With Multiple System Atrophy or Parkinson's Disease Unknown status NCT00758849 Phase 2 Placebo;Fipamezole
22 Establishing 18F-PBR06 PET Imaging as a Viable Pharmacodynamic Endpoint in MSA Unknown status NCT03033680 Phase 1, Phase 2 [F-18]PBR06
23 A Multi-centered, Randomized, Double-blind, Placebo-controlled Clinical Trial to Assess the Efficacy, Safety, and Tolerability of Rasagiline Mesylate 1 mg in Patients With Multiple System Atrophy of the Parkinsonian Subtype (MSA-P) Completed NCT00977665 Phase 2 rasagiline mesylate;placebo
24 A 12-Week, Multicenter, Randomized, Parallel-Group Study to Assess the Safety, Tolerability, Pharmacokinetics, Biomarker Effects, Efficacy, and Effect on Microglia Activation, as Measured by Positron Emission Tomography, of AZD3241 in Subjects With Multiple System Atrophy Completed NCT02388295 Phase 2 AZD3241;Placebo
25 A Double-blind Placebo-controlled Randomized Clinical Trial of Autologous Mesenchymal Stem Cells in Patients With Multiple System Atrophy Completed NCT00911365 Phase 2
26 A Phase 2 Study to Assess the Effect of TD-9855 in Subjects With Neurogenic Orthostatic Hypotension Completed NCT02705755 Phase 2 TD-9855;Placebo
27 Treatment of Multiple System Atrophy Using Intravenous Immunoglobulins Completed NCT00750867 Phase 2 intravenous immunoglobulin (IVIg)
28 A Double-blinded Placebo-controlled Single-center Study to Evaluate the Efficacy of Intranasal Insulin 40 International Units Day as Treatment for Subjects With Parkinson Disease and Multiple System Atrophy Completed NCT02064166 Phase 2 Intranasal Insulin
29 Assessment of Fluoxetine's Effect in Patients With Multiple System Atrophy : a Double Blind Placebo-controlled Randomized Trial Completed NCT01146548 Phase 2 FLUOXETINE
30 Inosine 5'-Monophosphate to Raise of Serum Uric Acid Level in Patients With Multiple System Atrophy: a Multi-center, Randomized Controlled, Double Blind, Parallel Assigned Clinical Trial (IMPROVE MSA Study) Completed NCT03403309 Phase 2 1) Inosine 5'-monophosphate;Placebo
31 A Phase II, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Dose-Response, Study To Assess The Clinical Benefit Of Droxidopa and Droxidopa/Carbidopa In Subjects With Fibromyalgia Completed NCT01323374 Phase 2 Droxidopa;Carbidopa;Droxidopa/carbidopa;Placebo
32 The Differential Diagnosis of Parkinson's Disease and Parkinsonism by Positron-emission Tomography With Vesicular Monoamine Transporter Ligand (18F-DTBZ) Completed NCT01824056 Phase 2 18F-FDG
33 Acetylcholinesterase Inhibition: A Novel Approach in the Treatment of Orthostatic Hypotension in Spinal Cord Injury Completed NCT02307526 Phase 2 Pyridostigmine Bromide
34 Phase 2 Study of Riluzole Effects on Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
35 Safety and Efficacy of γIFN Treatment in Friedreich Ataxia Completed NCT03888664 Phase 2 gamma interferon
36 A Single Center Randomized,Double Blind, Placebo-controlled Futility Trial to Determine if Sirolimus is of Sufficient Promise to Slow the Progression of Multiple System Atrophy Recruiting NCT03589976 Phase 2 Sirolimus 2 MG
37 Phase 2 Norepinephrine Transporter Blockade, Autonomic Failure Recruiting NCT02796209 Phase 2 Atomexetine;Placebo
38 The Effect of Adrenergic Blocker Therapy on Cardiac and Striatal Transporter Uptake in Pre-Motor and Symptomatic Parkinson's Disease Recruiting NCT03775096 Phase 2 Carvedilol
39 Rituximab Therapy for the Patients With Multiple Syetem Atrophy Not yet recruiting NCT04004819 Phase 2 Rituximab
40 12-weeks, Multicentre, Randomized, Double-blind, Placebo-controlled, Exploratory, Pilot Study to Evaluate the Safety and Efficacy of Safinamide 200 mg OD, as add-on Therapy, in Patients With Possible or Probable Parkinsonian Variant of MSA Not yet recruiting NCT03753763 Phase 2 Safinamide Methanesulfonate;Safinamide Methanesulfonate matching placebo
41 Safety and Efficacy of Droxidopa for Fatigue in Patients With Parkinsonism Not yet recruiting NCT03446807 Phase 2 Droxidopa;Placebo Oral Tablet
42 A Double-blind, Randomized, Placebo-controlled Clinical Trial to Assess Efficacy, Safety and Tolerability of Lithium in Multiple System Atrophy. Terminated NCT00997672 Phase 2 Lithium Carbonate;Placebo
43 An Open-Label Study To Assess The Clinical Benefit Of Droxidopa In Subjects With Chronic Fatigue Syndrome Terminated NCT00977171 Phase 2 Droxidopa
44 L-Dihydroxyphenylserine (L-DOPS) for Norepinephrine Deficiency: Interactions With Carbidopa and Entacapone Terminated NCT00547911 Phase 1, Phase 2 Droxidopa;Carbidopa;Entacapone
45 A Phase 1 Study to Evaluate the Safety and Tolerability of Autologous Bone Marrow Derived Mesenchymal Stem Cells in Subjects With Multiple System Atrophy Unknown status NCT03265444 Phase 1
46 A Randomized, Placebo-controlled, Parallel Group, Patient-blind, Phase I Study Assessing the Safety and Exploring the Immunogenicity/Therapeutic Activity of AFFITOPE® PD01A and PD03A in Patients With Early Multiple System Atrophy Completed NCT02270489 Phase 1
47 Efficacy of Therapeutic Interventions for Orthostatic Hypotension in Parkinson's Disease and Multiple System Atrophy Completed NCT00103597 Phase 1 Fludrocortisone;Domperidone
48 The Autonomic Nervous System and Obesity Completed NCT00179023 Phase 1 Trimethaphan;Trimethaphan;Pseudoephedrine
49 The Pathophysiology and Treatment of Supine Hypertension in Patients With Autonomic Failure Completed NCT00223717 Phase 1 Clonidine;Nitroglycerin transdermal;Dipyridamole/ Aspirin (Aggrenox);Desmopressin (DDAVP);Sildenafil;Nifedipine;Hydralazine;Hydrochlorothiazide;Placebo;Bosentan;Diltiazem;Eplerenone;guanfacine;captopril;carbidopa;losartan;metoprolol tartrate;nebivolol hydrochloride;prazosin hydrochloride;tamsulosin hydrochloride;aliskiren
50 A Dose Response Trial of Droxidopa to Treat Hypotension in Persons With SCI Completed NCT01354158 Phase 1 Droxidopa

Search NIH Clinical Center for Multiple System Atrophy 1

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Multiple System Atrophy 1 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Multiple System Atrophy 1:
Mesenchymal stem cells for multiple system atrophy
Embryonic/Adult Cultured Cells Related to Multiple System Atrophy 1:
Bone marrow-derived mesenchymal stem cells PMIDs: 19513327

Cochrane evidence based reviews: multiple system atrophy

Genetic Tests for Multiple System Atrophy 1

Genetic tests related to Multiple System Atrophy 1:

# Genetic test Affiliating Genes
1 Shy-Drager Syndrome 29 COQ2

Anatomical Context for Multiple System Atrophy 1

MalaCards organs/tissues related to Multiple System Atrophy 1:

41
Brain, Testes, Eye, Cerebellum, Spinal Cord, Heart, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Multiple System Atrophy 1:
# Tissue Anatomical CompartmentCell Relevance
1 Limb Pelvic Girdle Bone Marrow Stromal Cells Potential therapeutic candidate
2 Bone Bone Marrow Bone Marrow Stromal Cells Potential therapeutic candidate

Publications for Multiple System Atrophy 1

Articles related to Multiple System Atrophy 1:

(show top 50) (show all 3769)
# Title Authors PMID Year
1
Mutant COQ2 in multiple-system atrophy. 38 8 71
24988567 2014
2
Mutant COQ2 in multiple-system atrophy. 38 8 71
24988568 2014
3
Mutant COQ2 in multiple-system atrophy. 38 8 71
24988569 2014
4
Mutations in COQ2 in familial and sporadic multiple-system atrophy. 38 8 71
23758206 2013
5
Multiplex families with multiple system atrophy. 38 8 71
17420317 2007
6
SNCA variants and multiple system atrophy. 9 38 8
20437598 2010
7
SNCA variants are associated with increased risk for multiple system atrophy. 9 38 8
19475667 2009
8
Multiple system atrophy/progressive supranuclear palsy: alpha-Synuclein, synphilin, tau, and APOE. 9 38 8
11134398 2000
9
Oxidative damage linked to neurodegeneration by selective alpha-synuclein nitration in synucleinopathy lesions. 9 38 8
11062131 2000
10
Cellular milieu imparts distinct pathological α-synuclein strains in α-synucleinopathies. 38 8
29743672 2018
11
Mutant COQ2 in multiple-system atrophy. 38 8
24988570 2014
12
Copy number loss of (src homology 2 domain containing)-transforming protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy. 38 8
21658278 2011
13
Definite multiple system atrophy in a German family. 38 8
19289484 2009
14
Second consensus statement on the diagnosis of multiple system atrophy. 38 8
18725592 2008
15
Phosphorylation of Ser-129 is the dominant pathological modification of alpha-synuclein in familial and sporadic Lewy body disease. 38 8
16847063 2006
16
Probable multiple system atrophy in a German family. 38 8
15146018 2004
17
Consensus statement on the diagnosis of multiple system atrophy. American Autonomic Society and American Academy of Neurology. 38 8
9869555 1998
18
Multiple system atrophy: sporadic or familial? 38 8
8103165 1993
19
Environmental-occupational risk factors and familial associations in multiple system atrophy: a preliminary investigation. 38 8
1821673 1991
20
Farewell to the "Shy-Drager syndrome". 8
8644992 1996
21
Selective vulnerability of urinary Onuf motoneurons in Shy-Drager syndrome. 8
3612199 1987
22
Genetic control of progressive autonomic failure: evidence for an association with an HLA antigen. 8
6133061 1983
23
Pathological findings in idiopathic orthostatic hypotension. Its relationship with Parkinson's disease. 8
5411677 1970
24
FAMILIAL ORTHOSTATIC HYPOTENSION. 8
14236014 1964
25
A neurological syndrome associated with orthostatic hypotension: a clinical-pathologic study. 8
14446364 1960
26
In vivo visualization of alpha-synuclein deposition by carbon-11-labelled 2-[2-(2-dimethylaminothiazol-5-yl)ethenyl]-6-[2-(fluoro)ethoxy]benzoxazole positron emission tomography in multiple system atrophy. 9 38
20430832 2010
27
Lewy pathology in the submandibular gland of individuals with incidental Lewy body disease and sporadic Parkinson's disease. 9 38
20229352 2010
28
Involvement of 4-hydroxy-2-nonenal accumulation in multiple system atrophy. 9 38
20514294 2010
29
Reply to: SNCA variants are associated with increased risk of multiple system atrophy. 9 38
20373361 2010
30
Mitochondrial inhibitor 3-nitroproprionic acid enhances oxidative modification of alpha-synuclein in a transgenic mouse model of multiple system atrophy. 9 38
19405128 2009
31
Serum cholesterol levels and the risk of multiple system atrophy: a case-control study. 9 38
19185013 2009
32
Alpha-synuclein aggregation and Ser-129 phosphorylation-dependent cell death in oligodendroglial cells. 9 38
19203998 2009
33
Detection of elevated levels of soluble alpha-synuclein oligomers in post-mortem brain extracts from patients with dementia with Lewy bodies. 9 38
19155272 2009
34
The G2019S LRRK2 Mutation is Rare in Korean Patients with Parkinson's Disease and Multiple System Atrophy. 9 38
19513331 2009
35
Dopamine transporter immunoreactivity in peripheral blood lymphocytes in multiple system atrophy. 9 38
19089314 2009
36
LRRK2 and parkin immunoreactivity in multiple system atrophy inclusions. 9 38
18936941 2008
37
Glial cytoplasmic inclusions in neurologically normal elderly: prodromal multiple system atrophy? 9 38
18553090 2008
38
Characterization of antibodies that selectively detect alpha-synuclein in pathological inclusions. 9 38
18414880 2008
39
Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes. 9 38
18442140 2008
40
Specificity and regulation of casein kinase-mediated phosphorylation of alpha-synuclein. 9 38
18451726 2008
41
Non-steroidal anti-inflammatory drugs have potent anti-fibrillogenic and fibril-destabilizing effects for alpha-synuclein fibrils in vitro. 9 38
18164319 2008
42
The pathophysiology and diagnosis of orthostatic hypotension. 9 38
18368300 2008
43
Ubiquitination of alpha-synuclein by Siah-1 promotes alpha-synuclein aggregation and apoptotic cell death. 9 38
18065497 2008
44
A more efficient enzyme-linked immunosorbent assay for measurement of alpha-synuclein in cerebrospinal fluid. 9 38
17976734 2008
45
Presynaptic and postsynaptic nigrostriatal dopaminergic functions in multiple system atrophy. 9 38
18185098 2008
46
Phosphorylated Smad 2/3 colocalizes with phospho-tau inclusions in Pick disease, progressive supranuclear palsy, and corticobasal degeneration but not with alpha-synuclein inclusions in multiple system atrophy or dementia with Lewy bodies. 9 38
17984683 2007
47
Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses. 9 38
17653558 2007
48
Multiple system atrophy: alpha-synuclein and neuronal degeneration. 9 38
18018485 2007
49
p25alpha relocalizes in oligodendroglia from myelin to cytoplasmic inclusions in multiple system atrophy. 9 38
17823288 2007
50
Casein kinase 2 is the major enzyme in brain that phosphorylates Ser129 of human alpha-synuclein: Implication for alpha-synucleinopathies. 9 38
17868672 2007

Variations for Multiple System Atrophy 1

ClinVar genetic disease variations for Multiple System Atrophy 1:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COQ2 NM_015697.8(COQ2): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic,risk factor rs778094136 4:84205686-84205686 4:83284533-83284533
2 COQ2 NM_015697.8(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 4:84185459-84185459 4:83264306-83264306
3 COQ2 NM_015697.8(COQ2): c.1160G> A (p.Arg387Gln) single nucleotide variant risk factor rs763562410 4:84185458-84185458 4:83264305-83264305
4 COQ2 NM_015697.8(COQ2): c.1028T> C (p.Val343Ala) single nucleotide variant risk factor rs397514727 4:84188812-84188812 4:83267659-83267659
5 MAPT NM_016835.4(MAPT): c.664C> A (p.Arg222Ser) single nucleotide variant Uncertain significance 17:44060834-44060834 17:45983468-45983468

UniProtKB/Swiss-Prot genetic disease variations for Multiple System Atrophy 1:

74 (show all 11)
# Symbol AA change Variation ID SNP ID
1 COQ2 p.Phe29Leu VAR_070239
2 COQ2 p.Pro49His VAR_070240
3 COQ2 p.Ser57Thr VAR_070241
4 COQ2 p.Met78Val VAR_070243
5 COQ2 p.Ile97Thr VAR_070244
6 COQ2 p.Pro107Ser VAR_070245
7 COQ2 p.Ser113Phe VAR_070246
8 COQ2 p.Thr267Ala VAR_070247
9 COQ2 p.Ser297Cys VAR_070248
10 COQ2 p.Arg337Gln VAR_070250
11 COQ2 p.Val343Ala VAR_070251 rs397514727

Copy number variations for Multiple System Atrophy 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 124182 19 1 6900000 Loss Multiple system atrophy

Expression for Multiple System Atrophy 1

Search GEO for disease gene expression data for Multiple System Atrophy 1.

Pathways for Multiple System Atrophy 1

Pathways related to Multiple System Atrophy 1 according to KEGG:

37
# Name Kegg Source Accession
1 Ubiquinone and other terpenoid-quinone biosynthesis hsa00130

GO Terms for Multiple System Atrophy 1

Cellular components related to Multiple System Atrophy 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.93 TH SQSTM1 LRRK2 DRD2 DBH
2 mitochondrion GO:0005739 9.92 TH SQSTM1 SNCA PRKN MAPT LRRK2
3 lysosome GO:0005764 9.86 SQSTM1 SNCA LRRK2 GFAP
4 neuron projection GO:0043005 9.77 TH SLC6A3 PRKN MAPT LRRK2
5 growth cone GO:0030426 9.76 SNCA MAPT LRRK2
6 synaptic vesicle GO:0008021 9.75 TH SNCA LRRK2
7 perikaryon GO:0043204 9.74 TH LRRK2 DRD2
8 presynapse GO:0098793 9.72 SNCB SNCA PRKN
9 synaptic vesicle membrane GO:0030672 9.65 SNCA LRRK2 DRD2
10 neuronal cell body GO:0043025 9.63 TH SNCA SLC6A3 MBP MAPT LRRK2
11 terminal bouton GO:0043195 9.58 TH SNCA LRRK2
12 dopaminergic synapse GO:0098691 9.52 SLC6A3 DRD2
13 glial cell projection GO:0097386 9.51 MAPT GFAP
14 autolysosome GO:0044754 9.49 SQSTM1 LRRK2
15 Lewy body GO:0097413 9.43 SQSTM1 PRKN
16 axon GO:0030424 9.43 TH SNCA SLC6A3 MAPT LRRK2 DRD2
17 amphisome GO:0044753 9.26 SQSTM1 LRRK2
18 inclusion body GO:0016234 8.92 SQSTM1 SNCB SNCA LRRK2
19 cytoplasm GO:0005737 10.27 TH SQSTM1 SNCB SNCA SLC6A3 RPS27A

Biological processes related to Multiple System Atrophy 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.97 TH SNCA SLC6A3 DRD2
2 chemical synaptic transmission GO:0007268 9.94 SNCB SNCA MBP DBH
3 negative regulation of neuron apoptotic process GO:0043524 9.89 SNCB SNCA PRKN
4 membrane organization GO:0061024 9.88 SNCA RPS27A MBP
5 response to ethanol GO:0045471 9.85 TH SLC6A3 DRD2
6 mitochondrion organization GO:0007005 9.83 SQSTM1 PRKN LRRK2
7 autophagy GO:0006914 9.81 SQSTM1 PRKN LRRK2 DRD2
8 excitatory postsynaptic potential GO:0060079 9.78 SNCA LRRK2 DRD2
9 regulation of autophagy GO:0010506 9.77 PRKN MAPT LRRK2
10 learning GO:0007612 9.76 TH PRKN ATXN1
11 regulation of reactive oxygen species metabolic process GO:2000377 9.72 SNCA PRKN
12 negative regulation of neuron death GO:1901215 9.72 SNCA PRKN LRRK2
13 regulation of long-term neuronal synaptic plasticity GO:0048169 9.71 SNCA DRD2
14 regulation of neurotransmitter secretion GO:0046928 9.71 SNCA PRKN
15 regulation of neuron death GO:1901214 9.71 SNCA LRRK2
16 synapse organization GO:0050808 9.71 SNCB SNCA MAPT
17 memory GO:0007613 9.71 TH MAPT DBH ATXN1
18 behavioral response to cocaine GO:0048148 9.7 SNCA DRD2
19 response to metal ion GO:0010038 9.7 TH SNCB
20 microglial cell activation GO:0001774 9.7 SNCA MAPT
21 response to iron ion GO:0010039 9.69 SLC6A3 DRD2
22 positive regulation of long-term synaptic potentiation GO:1900273 9.69 SQSTM1 DRD2
23 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.69 PRKN LRRK2
24 startle response GO:0001964 9.68 PRKN DRD2
25 regulation of mitochondrion organization GO:0010821 9.68 SQSTM1 PRKN
26 striatum development GO:0021756 9.68 LRRK2 DRD2
27 prepulse inhibition GO:0060134 9.67 SLC6A3 DRD2
28 response to nicotine GO:0035094 9.67 TH SLC6A3 DRD2
29 negative regulation of protein phosphorylation GO:0001933 9.67 SNCA PRKN LRRK2 DRD2
30 neurotransmitter biosynthetic process GO:0042136 9.66 TH SLC6A3
31 cellular response to dopamine GO:1903351 9.66 PRKN LRRK2
32 supramolecular fiber organization GO:0097435 9.65 SNCA MAPT
33 regulation of dopamine metabolic process GO:0042053 9.65 SLC6A3 PRKN
34 response to cocaine GO:0042220 9.65 SNCA SLC6A3 DRD2
35 regulation of locomotion GO:0040012 9.64 SNCA LRRK2
36 intracellular distribution of mitochondria GO:0048312 9.63 MAPT LRRK2
37 behavioral response to ethanol GO:0048149 9.63 DRD2 DBH
38 adenohypophysis development GO:0021984 9.62 SLC6A3 DRD2
39 regulation of mitochondrial fission GO:0090140 9.62 MAPT LRRK2
40 dopamine catabolic process GO:0042420 9.61 SLC6A3 DBH
41 response to amphetamine GO:0001975 9.61 TH DRD2 DBH
42 protein localization to mitochondrion GO:0070585 9.59 PRKN LRRK2
43 norepinephrine biosynthetic process GO:0042421 9.58 TH DBH
44 mitophagy GO:0000423 9.57 SQSTM1 PRKN
45 catecholamine biosynthetic process GO:0042423 9.56 TH DBH
46 locomotory behavior GO:0007626 9.55 TH SLC6A3 PRKN DRD2 DBH
47 dopamine uptake involved in synaptic transmission GO:0051583 9.52 SNCA PRKN
48 dopamine biosynthetic process GO:0042416 9.5 TH SNCA SLC6A3
49 regulation of synaptic vesicle transport GO:1902803 9.46 PRKN LRRK2
50 cellular response to manganese ion GO:0071287 9.43 TH PRKN LRRK2

Molecular functions related to Multiple System Atrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.71 SNCA PRKN MAPT LRRK2
2 enzyme binding GO:0019899 9.55 TH SQSTM1 SNCA PRKN MAPT
3 ferrous iron binding GO:0008198 9.43 TH SNCA
4 tubulin binding GO:0015631 9.43 PRKN MAPT LRRK2
5 phospholipase binding GO:0043274 9.37 SNCA PRKN
6 cuprous ion binding GO:1903136 9.32 SNCB SNCA
7 identical protein binding GO:0042802 9.28 SQSTM1 SNCA PRKN MAPT LRRK2 GLUD1
8 dopamine binding GO:0035240 9.13 TH SLC6A3 DRD2

Sources for Multiple System Atrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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