MSA1
MCID: MLT157
MIFTS: 70

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 56 73 37
Multiple System Atrophy 56 12 74 52 25 53 58 36 54 43 15 17 71
Shy-Drager Syndrome 12 74 25 53 29 6 43 71
Msa 52 25 58
Sporadic Olivopontocerebellar Atrophy 25 71
Msa1 56 73
Progressive Autonomic Failure with Multiple System Atrophy 25
Multiple System Atrophy 1, Susceptibility to 56
Multiple System Atrophy, Susceptibility to 56
Msa1, Susceptibility to 56
Multisystem Atrophy 58
Opca 25
Sds 25

Characteristics:

Orphanet epidemiological data:

58
multiple system atrophy
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Worldwide),1-5/10000 (Japan); Age of onset: Adult;

OMIM:

56
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:

31
multiple system atrophy 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance sporadic
Onset and clinical course progressive adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Multiple System Atrophy 1

NIH Rare Diseases : 52 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 autonomic dysfunction and pure autonomic failure. 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 abnormal pyramidal sign and dysarthria

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 : 56 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 : 53 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 : 36 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 : 73 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 : 74 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 874)
# Related Disease Score Top Affiliating Genes
1 autonomic dysfunction 33.2 SNCA DBH
2 pure autonomic failure 32.9 TH SNCA MAOB DBH
3 olivopontocerebellar atrophy 32.8 TH SNCA SLC6A3 MBP MAPT MAP2
4 striatonigral degeneration 32.5 TH SNCA SLC6A3 MBP MAP2 DRD2
5 rem sleep behavior disorder 31.1 SNCA SLC6A3 MAPT MAOB LRRK2
6 aceruloplasminemia 30.8 TH SNCA SLC6A3 SERPINA3 PRNP MAPT
7 dementia, lewy body 30.8 TH SNCG SNCB SNCA SLC6A3 SERPINA3
8 essential tremor 30.7 SNCA SLC6A3 PRKN MAPT LRRK2
9 neuritis 30.6 MBP MAPT GFAP
10 movement disease 30.4 TH SNCG SNCA SLC6A3 PRKN MAPT
11 brain injury 30.4 MBP MAPT GFAP DRD2
12 cerebellar disease 30.4 SERPINA3 COQ2 ATXN1
13 motor neuron disease 30.4 SQSTM1 SNCA PRKN MAPT
14 traumatic brain injury 30.3 MBP GFAP DRD2
15 perry syndrome 30.3 TH SNCA MAPT
16 normal pressure hydrocephalus 30.3 SERPINA3 MAPT GFAP
17 dentatorubral-pallidoluysian atrophy 30.3 TH PRNP ATXN1
18 mutism 30.3 SLC6A3 PRNP MAPT
19 stuttering 30.2 SLC6A3 DRD2 DBH
20 supranuclear palsy, progressive, 1 30.2 TH SNCA SLC6A3 SERPINA3 PRNP PRKN
21 dystonia 30.2 TH SQSTM1 SLC6A3 PRKN MAOB LRRK2
22 opiate dependence 30.2 TH SLC6A3 DRD2
23 peripheral nervous system disease 30.1 SERPINA3 PRKN MBP GFAP
24 tremor 30.1 SNCA PRKN MAPT LRRK2
25 binswanger's disease 30.1 MAPT GFAP
26 machado-joseph disease 30.1 SNCA SLC6A3 PRKN ATXN1
27 personality disorder 30.1 TH SLC6A3 MAOB DRD2
28 pathological gambling 30.1 SLC6A3 MAOB DRD2 DBH
29 central neurocytoma 30.1 SNCA MAP2 GFAP
30 nervous system disease 30.1 SNCA SERPINA3 PRNP MBP MAPT
31 restless legs syndrome 30.1 TH SNCA SLC6A3 PRKN MAPT MAOB
32 mental depression 30.1 SLC6A3 SERPINA3 DRD2
33 mitochondrial complex i deficiency, nuclear type 1 30.1 SNCA SLC6A3 PRKN LRRK2 COQ2
34 testicular disease 30.0 SERPINA3 PRKN LRRK2
35 attention deficit-hyperactivity disorder 30.0 TH SNCA SLC6A3 PRKN MAOB DRD2
36 aphasia 30.0 SNCA PRNP MAPT LRRK2
37 creutzfeldt-jakob disease 30.0 SNCA SLC6A3 SERPINA3 PRNP MAPT GFAP
38 granular cell tumor 30.0 SERPINA3 MBP GFAP
39 cerebral amyloid angiopathy, cst3-related 30.0 SERPINA3 PRNP MAPT
40 cocaine dependence 30.0 SLC6A3 MAOB DRD2 DBH
41 frontotemporal dementia 30.0 SQSTM1 SNCB SNCA PRNP MAPT LRRK2
42 sleep disorder 30.0 TH SNCA SLC6A3 MAPT DRD2
43 vascular dementia 29.9 SERPINA3 PRNP MBP MAPT
44 amyloidosis 29.9 SNCA SERPINA3 PRNP MAPT
45 mood disorder 29.9 TH SLC6A3 MAOB GFAP DRD2
46 anxiety 29.8 TH SLC6A3 MAOB DRD2
47 migraine with or without aura 1 29.8 SLC6A3 MAOB DRD2 DBH
48 leukoencephalopathy, hereditary diffuse, with spheroids 29.8 SNCA PRNP MAPT MAP2 GFAP
49 neurodegeneration with brain iron accumulation 29.7 TH SNCG SNCB SNCA SLC6A3 PRKN
50 stroke, ischemic 29.7 TH SERPINA3 MBP MAPT MAP2

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:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
4 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
5 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
6 abnormal rapid eye movement sleep 58 31 frequent (33%) Frequent (79-30%) HP:0002494
7 central sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0010536
8 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
9 postural tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002174
10 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
11 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
12 stridor 58 31 frequent (33%) Frequent (79-30%) HP:0010307
13 orthostatic hypotension due to autonomic dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0004926
14 parkinsonism 58 31 frequent (33%) Frequent (79-30%) HP:0001300
15 raynaud phenomenon 58 31 frequent (33%) Frequent (79-30%) HP:0030880
16 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
17 abnormal brain fdg positron emission tomography 58 31 frequent (33%) Frequent (79-30%) HP:0012658
18 autonomic bladder dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0005341
19 orofacial dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002310
20 gaze-evoked nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000640
21 resting tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002322
22 axial dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002530
23 autonomic erectile dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0008652
24 orthostatic syncope 58 31 frequent (33%) Frequent (79-30%) HP:0012670
25 female anorgasmia 58 31 frequent (33%) Frequent (79-30%) HP:0030015
26 camptocormia 58 31 frequent (33%) Frequent (79-30%) HP:0100595
27 cognitive impairment 31 occasional (7.5%) HP:0100543
28 hyperreflexia 31 HP:0001347
29 ptosis 31 HP:0000508
30 ataxia 31 HP:0001251
31 tremor 31 HP:0001337
32 dysautonomia 58 Frequent (79-30%)
33 skeletal muscle atrophy 31 HP:0003202
34 hypohidrosis 31 HP:0000966
35 babinski sign 31 HP:0003487
36 neurodegeneration 31 HP:0002180
37 urinary urgency 31 HP:0000012
38 urinary incontinence 31 HP:0000020
39 anhidrosis 31 HP:0000970
40 impotence 31 HP:0000802
41 orthostatic hypotension 31 HP:0001278
42 olivopontocerebellar atrophy 31 HP:0002542
43 iris atrophy 31 HP:0001089

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
dysarthria
tremor
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:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.42 ATXN1 CDK5 DBH DRD2 GFAP LRRK2
2 homeostasis/metabolism MP:0005376 10.39 ATXN1 CDK5 COQ2 DBH DRD2 GFAP
3 growth/size/body region MP:0005378 10.3 ATXN1 DBH DRD2 GFAP MAP2 MAPT
4 mortality/aging MP:0010768 10.3 ATXN1 CDK5 COQ2 DBH DRD2 GFAP
5 cellular MP:0005384 10.29 DRD2 GFAP LRRK2 MAOB MAPT MBP
6 nervous system MP:0003631 10.28 ATXN1 CDK5 DBH DRD2 GFAP LRRK2
7 integument MP:0010771 10.14 CDK5 DBH DRD2 LRRK2 MAPT PRKN
8 normal MP:0002873 9.97 CDK5 DBH DRD2 GFAP LRRK2 MAPT
9 no phenotypic analysis MP:0003012 9.91 CDK5 DRD2 LRRK2 MAPT PRKN PRNP
10 skeleton MP:0005390 9.7 ATXN1 COQ2 DBH DRD2 LRRK2 PRKN
11 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 226)
# 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 42794-76-3, 133163-28-7 4195
4 abobotulinumtoxinA Phase 4
5 Acetylcholine Release Inhibitors Phase 4
6 Neuromuscular Agents 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 Autonomic Agents Phase 4
14 Sympathomimetics Phase 4
15 Adrenergic Agonists Phase 4
16 Vasoconstrictor Agents Phase 4
17 Adrenergic Agents Phase 4
18
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
19
Norepinephrine Approved Phase 3 51-41-2 439260
20
nivolumab Approved Phase 2, Phase 3 946414-94-4
21
Cisplatin Approved Phase 2, Phase 3 15663-27-1 84093 441203 2767
22
Droxidopa Approved, Investigational Phase 3 23651-95-8 443940
23
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
24
Levodopa Approved Phase 3 59-92-7 6047
25
Carbidopa Approved Phase 3 28860-95-9 34359
26
Methyldopa Approved Phase 3 555-30-6 38853
27
Metoclopramide Approved, Investigational Phase 3 364-62-5 4168
28
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
29
Rifampicin Approved Phase 3 13292-46-1 5458213 5381226
30
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
31
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
32
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
33
Epigallocatechin Experimental, Investigational Phase 3 970-74-1 72277
34
Epigallocatechin gallate Investigational Phase 3 989-51-5 65064
35 Antineoplastic Agents, Immunological Phase 2, Phase 3
36 Antiparkinson Agents Phase 3
37 Antiemetics Phase 3
38 Gastrointestinal Agents Phase 3
39 Dopamine Agents Phase 3
40 Dopamine Antagonists Phase 3
41 Atomoxetine Hydrochloride Phase 3
42 Sympatholytics Phase 3
43 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3
44 Adrenergic alpha-2 Receptor Agonists Phase 3
45 Dopamine D2 Receptor Antagonists Phase 3
46 alpha-methyltyrosine Phase 3
47 Protective Agents Phase 3
48 Neuroprotective Agents Phase 3
49 Anti-Infective Agents Phase 3
50 Antibiotics, Antitubercular Phase 3

Interventional clinical trials:

(show top 50) (show all 130)
# 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 NCT00782340 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 NCT00633880 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 Multicentre, Phase 3, Clinical Study to Compare the Striatal Uptake of a Dopamine Transporter Radioligand, DaTSCAN™ Ioflupane (123I) Injection, After Intravenous Administration to Chinese Patients With a Diagnosis of Parkinson's Disease, Multiple System Atrophy, Progressive Supranuclear Palsy, or Essential Tremor and to Healthy Controls Not yet recruiting NCT04193527 Phase 3 DaTSCAN™ Ioflupane (123I) Injection
19 A Clinical Study of Patients With Symptomatic Neurogenic Orthostatic Hypotension to Assess Sustained Effects of Droxidopa Therapy Terminated NCT01927055 Phase 3 Droxidopa;Placebo
20 Double-Blind, Placebo-Controlled Study of Rifampicin in Multiple System Atrophy Terminated NCT01287221 Phase 3 Rifampicin;placebo
21 Phase 3 Study of Riluzole in Multiple System Atrophy (MSA) and Progressive Supranuclear Palsy (PSP) (Parkinson's Plus Syndromes) Terminated NCT00211224 Phase 3 Riluzole
22 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
23 Establishing 18F-PBR06 PET Imaging as a Viable Pharmacodynamic Endpoint in MSA Unknown status NCT03033680 Phase 1, Phase 2 [F-18]PBR06
24 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
25 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
26 A Double-blind Placebo-controlled Randomized Clinical Trial of Autologous Mesenchymal Stem Cells in Patients With Multiple System Atrophy Completed NCT00911365 Phase 2
27 A Phase 2 Study to Assess the Effect of TD-9855 in Subjects With Neurogenic Orthostatic Hypotension Completed NCT02705755 Phase 2 TD-9855;Placebo
28 Treatment of Multiple System Atrophy Using Intravenous Immunoglobulins Completed NCT00750867 Phase 2 intravenous immunoglobulin (IVIg)
29 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
30 Assessment of Fluoxetine's Effect in Patients With Multiple System Atrophy : a Double Blind Placebo-controlled Randomized Trial Completed NCT01146548 Phase 2 FLUOXETINE
31 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
32 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
33 Acetylcholinesterase Inhibition: A Novel Approach in the Treatment of Orthostatic Hypotension in Spinal Cord Injury Completed NCT02307526 Phase 2 Pyridostigmine Bromide
34 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
35 Phase 2 Study of Riluzole Effects on Patients With Chronic Cerebellar Ataxia Completed NCT00202397 Phase 2 Riluzole
36 Safety and Efficacy of γIFN Treatment in Friedreich Ataxia Completed NCT03888664 Phase 2 gamma interferon
37 Rituximab Therapy for the Patients With Multiple Syetem Atrophy Recruiting NCT04004819 Phase 2 Rituximab
38 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 Recruiting NCT03753763 Phase 2 Safinamide Methanesulfonate;Safinamide Methanesulfonate matching placebo
39 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
40 Phase 2 Norepinephrine Transporter Blockade, Autonomic Failure Recruiting NCT02796209 Phase 2 Atomexetine;Placebo
41 A Pilot Exploratory, Randomised, Placebo-controlled, Double Blinded, Cross-over , Phase 2a Study to Explore Efficacy and Safety of NBMI Treatment in Patients With Progressive Supranuclear Palsy (PSP) or Multiple System Atrophy (MSA) Recruiting NCT04184063 Phase 2 NBMI
42 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
43 Safety and Efficacy of Droxidopa for Fatigue in Patients With Parkinsonism Not yet recruiting NCT03446807 Phase 2 Droxidopa;Placebo Oral Tablet
44 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
45 L-Dihydroxyphenylserine (L-DOPS) for Norepinephrine Deficiency: Interactions With Carbidopa and Entacapone Terminated NCT00547911 Phase 1, Phase 2 Droxidopa;Carbidopa;Entacapone
46 An Open-Label Study To Assess The Clinical Benefit Of Droxidopa In Subjects With Chronic Fatigue Syndrome Terminated NCT00977171 Phase 2 Droxidopa
47 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
48 Efficacy of Therapeutic Interventions for Orthostatic Hypotension in Parkinson's Disease and Multiple System Atrophy Completed NCT00103597 Phase 1 Fludrocortisone;Domperidone
49 The Autonomic Nervous System and Obesity Completed NCT00179023 Phase 1 Trimethaphan;Trimethaphan;Pseudoephedrine
50 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

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:

40
Brain, Eye, Testes, Cerebellum, Spinal Cord, Bone, Heart
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 3896)
# Title Authors PMID Year
1
Mutant COQ2 in multiple-system atrophy. 61 56 6
24988567 2014
2
Mutant COQ2 in multiple-system atrophy. 61 56 6
24988568 2014
3
Mutant COQ2 in multiple-system atrophy. 61 56 6
24988569 2014
4
Multiplex families with multiple system atrophy. 61 56 6
17420317 2007
5
SNCA variants and multiple system atrophy. 54 61 56
20437598 2010
6
SNCA variants are associated with increased risk for multiple system atrophy. 54 61 56
19475667 2009
7
Multiple system atrophy/progressive supranuclear palsy: alpha-Synuclein, synphilin, tau, and APOE. 54 61 56
11134398 2000
8
Oxidative damage linked to neurodegeneration by selective alpha-synuclein nitration in synucleinopathy lesions. 54 61 56
11062131 2000
9
Cellular milieu imparts distinct pathological α-synuclein strains in α-synucleinopathies. 61 56
29743672 2018
10
Mutant COQ2 in multiple-system atrophy. 61 56
24988570 2014
11
Mutations in COQ2 in familial and sporadic multiple-system atrophy. 61 56
23758206 2013
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. 61 56
21658278 2011
13
Definite multiple system atrophy in a German family. 61 56
19289484 2009
14
Second consensus statement on the diagnosis of multiple system atrophy. 61 56
18725592 2008
15
Phosphorylation of Ser-129 is the dominant pathological modification of alpha-synuclein in familial and sporadic Lewy body disease. 61 56
16847063 2006
16
Probable multiple system atrophy in a German family. 61 56
15146018 2004
17
Consensus statement on the diagnosis of multiple system atrophy. American Autonomic Society and American Academy of Neurology. 61 56
9869555 1998
18
Multiple system atrophy: sporadic or familial? 61 56
8103165 1993
19
Environmental-occupational risk factors and familial associations in multiple system atrophy: a preliminary investigation. 61 56
1821673 1991
20
Farewell to the "Shy-Drager syndrome". 56
8644992 1996
21
Selective vulnerability of urinary Onuf motoneurons in Shy-Drager syndrome. 56
3612199 1987
22
Genetic control of progressive autonomic failure: evidence for an association with an HLA antigen. 56
6133061 1983
23
Pathological findings in idiopathic orthostatic hypotension. Its relationship with Parkinson's disease. 56
5411677 1970
24
FAMILIAL ORTHOSTATIC HYPOTENSION. 56
14236014 1964
25
A neurological syndrome associated with orthostatic hypotension: a clinical-pathologic study. 56
14446364 1960
26
Lewy pathology in the submandibular gland of individuals with incidental Lewy body disease and sporadic Parkinson's disease. 54 61
20229352 2010
27
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. 54 61
20430832 2010
28
Involvement of 4-hydroxy-2-nonenal accumulation in multiple system atrophy. 54 61
20514294 2010
29
Reply to: SNCA variants are associated with increased risk of multiple system atrophy. 54 61
20373361 2010
30
Mitochondrial inhibitor 3-nitroproprionic acid enhances oxidative modification of alpha-synuclein in a transgenic mouse model of multiple system atrophy. 54 61
19405128 2009
31
Detection of elevated levels of soluble alpha-synuclein oligomers in post-mortem brain extracts from patients with dementia with Lewy bodies. 54 61
19155272 2009
32
Serum cholesterol levels and the risk of multiple system atrophy: a case-control study. 54 61
19185013 2009
33
Alpha-synuclein aggregation and Ser-129 phosphorylation-dependent cell death in oligodendroglial cells. 54 61
19203998 2009
34
The G2019S LRRK2 Mutation is Rare in Korean Patients with Parkinson's Disease and Multiple System Atrophy. 54 61
19513331 2009
35
Dopamine transporter immunoreactivity in peripheral blood lymphocytes in multiple system atrophy. 54 61
19089314 2009
36
LRRK2 and parkin immunoreactivity in multiple system atrophy inclusions. 54 61
18936941 2008
37
Glial cytoplasmic inclusions in neurologically normal elderly: prodromal multiple system atrophy? 54 61
18553090 2008
38
Characterization of antibodies that selectively detect alpha-synuclein in pathological inclusions. 54 61
18414880 2008
39
Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes. 54 61
18442140 2008
40
Specificity and regulation of casein kinase-mediated phosphorylation of alpha-synuclein. 54 61
18451726 2008
41
Non-steroidal anti-inflammatory drugs have potent anti-fibrillogenic and fibril-destabilizing effects for alpha-synuclein fibrils in vitro. 54 61
18164319 2008
42
Ubiquitination of alpha-synuclein by Siah-1 promotes alpha-synuclein aggregation and apoptotic cell death. 54 61
18065497 2008
43
The pathophysiology and diagnosis of orthostatic hypotension. 54 61
18368300 2008
44
A more efficient enzyme-linked immunosorbent assay for measurement of alpha-synuclein in cerebrospinal fluid. 54 61
17976734 2008
45
Presynaptic and postsynaptic nigrostriatal dopaminergic functions in multiple system atrophy. 54 61
18185098 2008
46
Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses. 54 61
17653558 2007
47
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. 54 61
17984683 2007
48
Multiple system atrophy: alpha-synuclein and neuronal degeneration. 54 61
18018485 2007
49
p25alpha relocalizes in oligodendroglia from myelin to cytoplasmic inclusions in multiple system atrophy. 54 61
17823288 2007
50
Casein kinase 2 is the major enzyme in brain that phosphorylates Ser129 of human alpha-synuclein: Implication for alpha-synucleinopathies. 54 61
17868672 2007

Variations for Multiple System Atrophy 1

ClinVar genetic disease variations for Multiple System Atrophy 1:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COQ2 NM_015697.8(COQ2):c.382A>G (p.Met128Val)SNV Pathogenic,risk factor 60536 rs778094136 4:84205686-84205686 4:83284533-83284533
2 COQ2 NM_015697.8(COQ2):c.1159C>T (p.Arg387Ter)SNV Pathogenic,risk factor 60538 rs751185256 4:84185459-84185459 4:83264306-83264306
3 COQ2 NM_015697.8(COQ2):c.1160G>A (p.Arg387Gln)SNV risk factor 60539 rs763562410 4:84185458-84185458 4:83264305-83264305
4 COQ2 NM_015697.8(COQ2):c.1028T>C (p.Val343Ala)SNV risk factor 60537 rs397514727 4:84188812-84188812 4:83267659-83267659
5 MAPT NM_016835.4(MAPT):c.664C>A (p.Arg222Ser)SNV Uncertain significance 638372 17:44060834-44060834 17:45983468-45983468

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

73 (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 Chromosome 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:

36
# Name Kegg Source Accession
1 Ubiquinone and other terpenoid-quinone biosynthesis hsa00130

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 TH SNCA SLC6A3 PRKN MAPT LRRK2
2 11.97 TH SNCB SNCA PRNP PRKN MBP
3
Show member pathways
11.79 TH SLC6A3 MAOB DRD2 CDK5
4
Show member pathways
11.68 TH DRD2 CDK5
5 11.58 TH SNCA SLC6A3 PRKN LRRK2
6 11.51 TH MAP2 GFAP
7
Show member pathways
11.46 TH MAOB DBH
8
Show member pathways
11.18 TH SLC6A3 DBH
9 11.06 TH SNCA SLC6A3 PRKN MAOB
10
Show member pathways
10.72 TH SLC6A3 MAOB DRD2 DBH
11 10.62 TH MAOB

GO Terms for Multiple System Atrophy 1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.4 TH SQSTM1 SNCG SNCB SNCA SLC6A3
2 mitochondrion GO:0005739 10.16 TH SQSTM1 SNCA PRKN MAPT MAOB
3 cell GO:0005623 10.03 TH SNCA PRNP PRKN MAPT LRRK2
4 postsynaptic density GO:0014069 9.92 PRNP MAP2 DRD2 CDK5
5 synapse GO:0045202 9.91 SNCG SNCB SNCA MBP LRRK2 DBH
6 membrane raft GO:0045121 9.88 SLC6A3 PRNP MAPT LRRK2
7 dendrite GO:0030425 9.87 TH PRNP MAPT MAP2 LRRK2 DRD2
8 presynapse GO:0098793 9.81 SNCB SNCA PRKN CDK5
9 growth cone GO:0030426 9.8 SNCA MAPT LRRK2 CDK5
10 neuron projection GO:0043005 9.8 TH SLC6A3 PRKN MAPT MAP2 LRRK2
11 cell body GO:0044297 9.78 MAPT MAP2 GFAP
12 perikaryon GO:0043204 9.78 TH LRRK2 DRD2 CDK5
13 synaptic vesicle membrane GO:0030672 9.77 SNCA LRRK2 DRD2
14 postsynapse GO:0098794 9.76 SNCA PRNP LRRK2 CDK5
15 axon GO:0030424 9.76 TH SNCG SNCA SLC6A3 MAPT LRRK2
16 terminal bouton GO:0043195 9.72 TH SNCA LRRK2
17 nuclear periphery GO:0034399 9.62 MAPT MAP2
18 dopaminergic synapse GO:0098691 9.61 SLC6A3 DRD2
19 neuronal cell body GO:0043025 9.61 TH SNCG SNCA SLC6A3 MBP MAPT
20 glial cell projection GO:0097386 9.59 MAPT GFAP
21 autolysosome GO:0044754 9.58 SQSTM1 LRRK2
22 main axon GO:0044304 9.57 MAPT MAP2
23 Lewy body GO:0097413 9.54 SQSTM1 PRKN
24 amphisome GO:0044753 9.4 SQSTM1 LRRK2
25 inclusion body GO:0016234 9.02 SQSTM1 SNCB SNCA PRNP LRRK2

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

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 10.03 TH SNCA SLC6A3 MAOB DRD2
2 autophagy GO:0006914 9.96 SQSTM1 PRKN LRRK2 DRD2
3 response to ethanol GO:0045471 9.9 TH SLC6A3 MAOB DRD2
4 response to toxic substance GO:0009636 9.89 MBP MAOB DRD2
5 axonogenesis GO:0007409 9.89 MAP2 DRD2 CDK5
6 mitochondrion organization GO:0007005 9.89 SQSTM1 PRKN LRRK2 CDK5
7 memory GO:0007613 9.88 TH MAPT DBH ATXN1
8 chemical synaptic transmission GO:0007268 9.88 SNCG SNCB SNCA MBP DBH CDK5
9 regulation of autophagy GO:0010506 9.87 PRKN MAPT LRRK2
10 positive regulation of protein binding GO:0032092 9.86 PRKN LRRK2 CDK5
11 learning GO:0007612 9.86 TH PRKN ATXN1
12 excitatory postsynaptic potential GO:0060079 9.86 SNCA LRRK2 DRD2 CDK5
13 negative regulation of neuron death GO:1901215 9.84 SNCA PRKN LRRK2 CDK5
14 adult locomotory behavior GO:0008344 9.83 SNCG SNCA PRKN
15 protein destabilization GO:0031648 9.83 SNCA PRNP PRKN
16 visual learning GO:0008542 9.82 DRD2 DBH CDK5
17 response to nicotine GO:0035094 9.82 TH SLC6A3 DRD2
18 synaptic vesicle endocytosis GO:0048488 9.81 SNCB SNCA CDK5
19 synapse organization GO:0050808 9.81 SNCG SNCB SNCA MAPT
20 response to amphetamine GO:0001975 9.8 TH DRD2 DBH
21 associative learning GO:0008306 9.78 DRD2 DBH CDK5
22 regulation of neurotransmitter secretion GO:0046928 9.76 SNCG SNCA PRKN
23 positive regulation of neuron death GO:1901216 9.76 SNCA PRNP MAPT CDK5
24 behavioral response to cocaine GO:0048148 9.74 SNCA DRD2 CDK5
25 response to cocaine GO:0042220 9.73 SNCA SLC6A3 DRD2 CDK5
26 startle response GO:0001964 9.72 PRKN DRD2
27 cellular response to dopamine GO:1903351 9.72 PRKN LRRK2
28 prepulse inhibition GO:0060134 9.72 SLC6A3 DRD2
29 behavioral response to ethanol GO:0048149 9.72 DRD2 DBH
30 central nervous system neuron development GO:0021954 9.72 MAPT MAP2 CDK5
31 locomotory behavior GO:0007626 9.72 TH SLC6A3 PRKN DRD2 DBH
32 negative regulation of protein processing GO:0010955 9.71 PRNP LRRK2
33 neurotransmitter biosynthetic process GO:0042136 9.71 TH SLC6A3
34 supramolecular fiber organization GO:0097435 9.71 SNCA MAPT
35 negative regulation of microtubule polymerization GO:0031115 9.7 SNCA MAP2
36 striatum development GO:0021756 9.7 LRRK2 DRD2
37 regulation of microtubule polymerization GO:0031113 9.7 MAPT MAP2
38 regulation of dopamine metabolic process GO:0042053 9.7 SLC6A3 PRKN
39 dopamine biosynthetic process GO:0042416 9.7 TH SNCA SLC6A3
40 adenohypophysis development GO:0021984 9.69 SLC6A3 DRD2
41 regulation of mitochondrial fission GO:0090140 9.68 MAPT LRRK2
42 intracellular distribution of mitochondria GO:0048312 9.68 MAPT LRRK2
43 regulation of locomotion GO:0040012 9.68 SNCA LRRK2
44 protein localization to mitochondrion GO:0070585 9.67 PRKN LRRK2
45 catecholamine biosynthetic process GO:0042423 9.67 TH DBH
46 norepinephrine biosynthetic process GO:0042421 9.67 TH DBH
47 cellular response to manganese ion GO:0071287 9.67 TH PRKN LRRK2
48 regulation of dopamine secretion GO:0014059 9.67 SNCG SNCA PRKN DRD2
49 mitophagy GO:0000423 9.66 SQSTM1 PRKN
50 dopamine catabolic process GO:0042420 9.65 SLC6A3 MAOB DBH

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.42 TH SQSTM1 SNCG SNCA SLC6A3 SERPINA3
2 identical protein binding GO:0042802 9.91 SQSTM1 SNCA PRNP PRKN MAPT LRRK2
3 enzyme binding GO:0019899 9.8 TH SQSTM1 SNCA PRKN MAPT
4 chaperone binding GO:0051087 9.65 PRNP PRKN MAPT
5 protease binding GO:0002020 9.63 SLC6A3 PRNP MBP
6 microtubule binding GO:0008017 9.63 SNCA PRNP MAPT MAP2 LRRK2 CDK5
7 copper ion binding GO:0005507 9.61 SNCA PRNP DBH
8 tau protein binding GO:0048156 9.54 SNCA MAP2 CDK5
9 dopamine binding GO:0035240 9.5 TH SLC6A3 DRD2
10 cuprous ion binding GO:1903136 9.13 SNCB SNCA PRNP
11 tubulin binding GO:0015631 9.02 PRNP PRKN MAPT MAP2 LRRK2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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