MSA1
MCID: MLT157
MIFTS: 71

Multiple System Atrophy 1 (MSA1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Multiple System Atrophy 1

MalaCards integrated aliases for Multiple System Atrophy 1:

Name: Multiple System Atrophy 1 57 73 36
Multiple System Atrophy 57 11 19 42 52 58 75 28 53 5 43 14 16 71 33
Shy-Drager Syndrome 11 19 42 75 43 71
Msa 19 42 58
Multiple System Atrophy 1, Susceptibility to 57 28
Sporadic Olivopontocerebellar Atrophy 42 71
Multisystem Atrophy 58 33
Msa1 57 73
Progressive Autonomic Failure with Multiple System Atrophy 42
Multiple System Atrophy, Susceptibility to 57
Msa1, Susceptibility to 57
Opca 42
Sds 42

Characteristics:


Inheritance:

Multiple System Atrophy 1: Autosomal dominant 57
Multiple System Atrophy: Multigenic/multifactorial 58

Prevelance:

Multiple System Atrophy: 1-9/100000 (Worldwide, Worldwide, Iceland, Sweden, United Kingdom, France, Italy, Faroe Islands) 1-9/1000000 (Iceland, United States, Russian Federation) 1-5/10000 (Japan) 58

Age Of Onset:

Multiple System Atrophy: Adult 58

OMIM®:

57 (Updated 24-Oct-2022)
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


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Multiple System Atrophy 1

GARD: 19 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. 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.

MalaCards based summary: Multiple System Atrophy 1, also known as multiple system atrophy, is related to pure autonomic failure and olivopontocerebellar atrophy. An important gene associated with Multiple System Atrophy 1 is COQ2 (Coenzyme Q2, Polyprenyltransferase), and among its related pathways/superpathways are Neuroscience and Neural Stem Cells and Lineage-specific Markers. The drugs Acetylcholine and Zoledronic acid have been mentioned in the context of this disorder. Affiliated tissues include Limb and Bone, and related phenotypes are abnormal pyramidal sign and dysarthria

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) (Updated 24-Oct-2022)

MedlinePlus Genetics: 42 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.

NINDS: 52 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.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 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.

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 798)
# Related Disease Score Top Affiliating Genes
1 pure autonomic failure 32.6 SNCA MAOB DBH
2 olivopontocerebellar atrophy 32.4 SNCA SERPINA3 MBP MAP2 COQ2 ATXN1
3 striatonigral degeneration 32.1 TH SNCA SLC6A3 MBP MAP2 LRRK2
4 cerebral degeneration 31.8 SNCA SERPINA3 MBP MAPT GFAP
5 tremor 31.6 SNCA PRKN MAPT LRRK2
6 rem sleep behavior disorder 31.4 SNCA SLC6A3 PRKN MAPT MAOB LRRK2
7 constipation 31.1 TH SNCA SLC6A3 MAOB LRRK2
8 spinocerebellar ataxia 1 31.1 SNCA HTT ATXN1
9 supranuclear palsy, progressive, 1 30.9 TH SNCA SLC6A3 SERPINA3 PRNP PRKN
10 cerebellar disease 30.9 SNCA SERPINA3 PRNP PRKN MAPT LRRK2
11 essential tremor 30.8 SNCA SLC6A3 PRKN MAPT LRRK2
12 amyloidosis 30.8 SNCA SERPINA3 PRNP MAPT
13 movement disease 30.7 TH SNCG SNCA SLC6A3 SERPINA3 PRNP
14 aphasia 30.7 SNCB SNCA PRNP MAPT LRRK2
15 dystonia 30.7 TH SQSTM1 SNCA SLC6A3 PRKN MAOB
16 speech disorder 30.6 SLC6A3 MAPT DRD2
17 spinocerebellar ataxia 17 30.6 SLC6A3 HTT ATXN1
18 ideomotor apraxia 30.6 SNCA SLC6A3 PRNP MAPT
19 coenzyme q10 deficiency, primary, 1 30.6 SNCA MAPT COQ2
20 neonatal hypoxic and ischemic brain injury 30.6 TH MBP
21 parkinson disease 1, autosomal dominant 30.6 SNCA LRRK2
22 gaucher's disease 30.6 SNCA PRKN LRRK2
23 restless legs syndrome 30.6 SNCA SLC6A3 PRKN MAPT MAOB DRD2
24 hereditary late-onset parkinson disease 30.6 SNCA MAPT LRRK2
25 parkinson disease 15, autosomal recessive early-onset 30.5 SNCA PRKN LRRK2
26 gaucher disease, type i 30.5 SNCA PRKN LRRK2
27 spinal cord disease 30.5 SERPINA3 MBP GFAP
28 normal pressure hydrocephalus 30.5 SNCA SLC6A3 SERPINA3 MAPT
29 motor neuron disease 30.4 SQSTM1 SNCA SERPINA3 PRKN MAPT HTT
30 vascular parkinsonism 30.4 SNCA SLC6A3 PRKN MAOB LRRK2
31 dentatorubral-pallidoluysian atrophy 30.4 PRNP HTT ATXN1
32 mutism 30.3 SLC6A3 PRNP MAPT
33 frontotemporal dementia 30.3 SQSTM1 SNCB SNCA SERPINA3 PRNP PRKN
34 binswanger's disease 30.3 MAPT GFAP
35 parkinson disease 2, autosomal recessive juvenile 30.3 SNCA PRKN LRRK2
36 parkinson disease 23, autosomal recessive early-onset 30.3 SNCA HTT
37 hydrocephalus 30.3 SLC6A3 SERPINA3 MBP MAPT GFAP
38 drug dependence 30.3 SLC6A3 DRD2 DBH
39 pseudobulbar palsy 30.3 SNCA PRNP MAPT
40 pathological gambling 30.3 SLC6A3 MAOB DRD2
41 stuttering 30.2 SLC6A3 DRD2 DBH
42 leprosy 3 30.2 SERPINA3 PRKN LRRK2
43 neuritis 30.2 MBP MAPT GFAP
44 prion disease 30.2 SNCA SERPINA3 PRNP MAPT HTT
45 personality disorder 30.2 TH SLC6A3 MAOB DRD2
46 psychotic disorder 30.2 TH SLC6A3 SERPINA3 MAOB DRD2 DBH
47 creutzfeldt-jakob disease 30.2 SNCA SERPINA3 PRNP MAPT LRRK2 HTT
48 vascular dementia 30.2 SNCA SERPINA3 PRNP MBP MAPT MAOB
49 cerebral amyloid angiopathy, cst3-related 30.1 SNCA SERPINA3 PRNP MAPT
50 anosognosia 30.1 MAPT HTT

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
tremor
rigidity
postural instability
more
Cardiovascular Vascular:
orthostatic hypotension

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

Genitourinary External Genitalia Male:
erectile dysfunction

Genitourinary Bladder:
urinary incontinence
urinary urgency
incomplete bladder emptying

Skin Nails Hair Skin:
decreased sweating

Clinical features from OMIM®:

146500 (Updated 24-Oct-2022)

MGI Mouse Phenotypes related to Multiple System Atrophy 1:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.45 ATXN1 DBH DRD2 GFAP HTT LRRK2
2 homeostasis/metabolism MP:0005376 10.41 ATXN1 DBH DRD2 GFAP HTT LRRK2
3 normal MP:0002873 10.34 DBH DRD2 GFAP HTT LRRK2 MAPT
4 growth/size/body region MP:0005378 10.34 ATXN1 COQ2 DBH DRD2 GFAP HTT
5 behavior/neurological MP:0005386 10.28 ATXN1 DBH DRD2 GFAP HTT LRRK2
6 cellular MP:0005384 10.25 DRD2 GFAP HTT LRRK2 MAOB MAPT
7 no phenotypic analysis MP:0003012 10.16 DRD2 HTT LRRK2 MAPT PRKN PRNP
8 cardiovascular system MP:0005385 10.15 COQ2 DBH DRD2 GFAP HTT LRRK2
9 muscle MP:0005369 10.08 ATXN1 DRD2 GFAP HTT MAPT PRKN
10 skeleton MP:0005390 10.03 ATXN1 COQ2 DBH DRD2 HTT LRRK2
11 mortality/aging MP:0010768 9.89 ATXN1 COQ2 DBH DRD2 GFAP HTT
12 taste/olfaction MP:0005394 9.55 DRD2 HTT MAPT SLC6A3 SNCA
13 integument MP:0010771 9.4 DBH DRD2 HTT LRRK2 MAPT PRKN

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 156)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2
Zoledronic acid Approved Phase 4 118072-93-8 68740
3
abobotulinumtoxinA Phase 4
4 Botulinum Toxins, Type A Phase 4
5 Botulinum Toxins Phase 4
6
Minocycline Approved, Investigational Phase 3 10118-90-8, 13614-98-7 54675783 5281021
7
Droxidopa Approved, Investigational Phase 3 23651-95-8 443940 92974
8
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
9
Rifampicin Approved Phase 3 13292-46-1 135512673 5381226 135900090
10
Sorbitol Approved, Investigational Phase 3 69-65-8, 50-70-4 453 6251 5780
11
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
12
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
13
Epigallocatechin gallate Investigational Phase 3 989-51-5 65064
14
Epigallocatechin Experimental, Investigational Phase 3 970-74-1 72277
15 Antiparkinson Agents Phase 3
16 Neurotransmitter Agents Phase 3
17 Anti-Infective Agents Phase 3
18 Antibiotics, Antitubercular Phase 3
19 Anti-Bacterial Agents Phase 3
20 Protective Agents Phase 3
21 Neuroprotective Agents Phase 3
22 Excitatory Amino Acid Antagonists Phase 3
23 Anticonvulsants Phase 3
24 Dermatologic Agents Phase 3
25 Photosensitizing Agents Phase 3
26 Micronutrients Phase 3
27 Folate Phase 3
28 Antitubercular Agents Phase 3
29 Isoniazid, pyrazinamide, rifampin drug combination Phase 3
30 Vitamins Phase 3
31 Trace Elements Phase 3
32 Vitamin B9 Phase 3
33
Vitamin B2 Phase 3
34 Vitamin B Complex Phase 3
35 diuretics Phase 3
36
Fluoxetine Approved, Vet_approved Phase 2 54910-89-3 3386
37
Rasagiline Approved Phase 2 136236-51-6 3052776
38
Midodrine Approved Phase 1, Phase 2 133163-28-7, 42794-76-3 4195
39
Exenatide Approved, Investigational Phase 2 141758-74-9 45588096
40
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
41
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
42
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
43
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
44
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
45
Carbidopa Approved Phase 1, Phase 2 28860-95-9 34359 38101
46
Entacapone Approved, Investigational Phase 1, Phase 2 130929-57-6 5281081
47
Norepinephrine Approved Phase 1, Phase 2 51-41-2 439260
48
Lithium carbonate Approved Phase 2 554-13-2
49
Uric acid Investigational Phase 2 69-93-2 1175
50
1,2-Dihydroxybenzene Experimental Phase 1, Phase 2 120-80-9 289

Interventional clinical trials:

(show top 50) (show all 137)
# 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 TOPAZ: Trial of Parkinson's And Zoledronic Acid A Randomized Placebo-controlled Trial of Zoledronic Acid for the Prevention of Fractures in Patients With Parkinson's Disease Recruiting NCT03924414 Phase 4 Zoledronic Acid 5Mg/Bag 100Ml Inj
3 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
4 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 Completed NCT02071459 Phase 2, Phase 3 L-Threo DOPS;placebo
5 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 Completed NCT04193527 Phase 3 DaTSCAN™ Ioflupane (123I) Injection
6 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
7 A Randomized, Double-Blind, Placebo-Controlled, Parallel- Group Study to Evaluate the Efficacy and Safety of BHV-3241 in Subjects With Multiple System Atrophy (M-STAR Study) Completed NCT03952806 Phase 3 Verdiperstat;Placebo
8 Double-Blind, Randomised, Two-Armed Study for the Evaluation of Efficacy and Safety of Minocycline for Treatment Completed NCT00146809 Phase 3 Minocyline
9 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
10 Phase 3 Study of Riluzole in Multiple System Atrophy (MSA) and Progressive Supranuclear Palsy (PSP) (Parkinson's Plus Syndromes) Terminated NCT00211224 Phase 3 Riluzole
11 Double-Blind, Placebo-Controlled Study of Rifampicin in Multiple System Atrophy Terminated NCT01287221 Phase 3 Rifampicin;placebo
12 A Clinical Study of Patients With Symptomatic Neurogenic Orthostatic Hypotension to Assess Sustained Effects of Droxidopa Therapy Terminated NCT01927055 Phase 3 Droxidopa;Placebo
13 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
14 A Phase 2 Study to Assess the Effect of TD-9855 in Subjects With Neurogenic Orthostatic Hypotension Completed NCT02705755 Phase 2 TD-9855;Placebo
15 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
16 Assessment of Fluoxetine's Effect in Patients With Multiple System Atrophy : a Double Blind Placebo-controlled Randomized Trial Completed NCT01146548 Phase 2 FLUOXETINE
17 Treatment of Multiple System Atrophy Using Intravenous Immunoglobulins Completed NCT00750867 Phase 2 intravenous immunoglobulin (IVIg)
18 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 Completed NCT03753763 Phase 2 Safinamide Methanesulfonate;Safinamide Methanesulfonate matching placebo
19 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
20 A Double-blind Placebo-controlled Randomized Clinical Trial of Autologous Mesenchymal Stem Cells in Patients With Multiple System Atrophy Completed NCT00911365 Phase 2
21 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) Completed NCT04184063 Phase 2 NBMI
22 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
23 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
24 Interventional, Randomized, Double-blind, Parallel-group, Placebo-controlled, Multi-centre Study to Assess the Efficacy, Safety and Tolerability of Lu AF82422 in Patients With Multiple System Atrophy Recruiting NCT05104476 Phase 2 Lu AF82422;Placebo
25 Randomized, Double-blind, Sham-controlled to Evaluate the Effects of an Automated Abdominal Binder in Improving Orthostatic Tolerance in Autonomic Failure Patients With Disabling Orthostatic Hypotension Recruiting NCT03482297 Phase 1, Phase 2 Placebo;Midodrine
26 A Randomized, Double-Blind, Placebo-Controlled Study of ATH434 in Multiple System Atrophy Recruiting NCT05109091 Phase 2 ATH434 dose level 1;ATH434 dose level 2;Placebo
27 An Open Label, Single Site, 48 Week, Randomised Controlled Trial Evaluating the Safety and Efficacy of Exenatide Once-weekly in the Treatment of Patients With Multiple System Atrophy Recruiting NCT04431713 Phase 2 Exenatide Pen Injector [Bydureon]
28 Randomized Double-Blind Placebo-Controlled Adaptive Design Trial Of Intrathecally Administered Autologous Mesenchymal Stem Cells In Multiple System Atrophy Recruiting NCT05167721 Phase 2
29 Intrathecal Autologous Mesenchymal Stem Cell Therapy in Multiple System Atrophy (MSA) - Effect of Dose and Natural History Active, not recruiting NCT02315027 Phase 1, Phase 2
30 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 Not yet recruiting NCT05526391 Phase 2 TAK-341;Placebo
31 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 Terminated NCT03589976 Phase 2 Sirolimus 2 MG
32 L-Dihydroxyphenylserine (L-DOPS) for Norepinephrine Deficiency: Interactions With Carbidopa and Entacapone Terminated NCT00547911 Phase 1, Phase 2 Droxidopa;Carbidopa;Entacapone
33 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
34 Safety and Efficacy of Droxidopa for Fatigue in Patients With Parkinsonism Withdrawn NCT03446807 Phase 2 Droxidopa;Placebo Oral Tablet
35 Efficacy of Therapeutic Interventions for Orthostatic Hypotension in Parkinson's Disease and Multiple System Atrophy Completed NCT00103597 Phase 1 Fludrocortisone;Domperidone
36 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
37 A Phase 1 Study to Evaluate the Safety and Tolerability of Autologous Bone Marrow Derived Mesenchymal Stem Cells in Subjects With Multiple System Atrophy Completed NCT03265444 Phase 1
38 The Autonomic Nervous System and Obesity Completed NCT00179023 Phase 1 Trimethaphan;Pseudoephedrine
39 Randomized, Double-Blind, Placebo-controlled Safety Study of Glial Cell Line-Derived Neurotrophic Factor Gene Transfer (AAV2-GDNF) in Multiple System Atrophy Recruiting NCT04680065 Phase 1
40 The Effects of Midodrine and Droxidopa on Splanchnic Capacitance in Autonomic Failure Aim 2 of RDCRN (Rare Diseases Clinical Research Network) Project 2 Recruiting NCT02897063 Phase 1 Droxidopa;Midodrine;Placebo
41 [18F]F-DOPA Imaging in Patients With Autonomic Failure Recruiting NCT04246437 Phase 1 [18F]FDOPA;Carbidopa 200mg oral dose;Entacapone 400mg oral dose
42 A Phase 1 Study to Assess the Safety, Tolerability, and Pharmacokinetics of ION464 Administered Intrathecally to Adults With Multiple System Atrophy Recruiting NCT04165486 Phase 1 ION464;Placebo
43 Hemodynamic Mechanisms of Abdominal Compression in the Treatment of Orthostatic Hypotension in Autonomic Failure Recruiting NCT02429557 Phase 1 Placebo pill;midodrine
44 Proof of Mechanism Study to Evaluate Binding of Alfa-synuclein by [18F]UCB-2897 in Participants With Parkinson's Disease or Multi-system Atrophy Recruiting NCT05274568 Phase 1 [18F]UCB-2897
45 Reduction in Splanchnic Capacitance Contributes to Sympathetically Dependent Hypertension in Autonomic Aim 1 of Rare Diseases Clinical Research Network (RDCRN) Project 2 Active, not recruiting NCT02726711 Phase 1 Trimethaphan;Placebo
46 Contribution of Angiotensin II to Supine Hypertension in Autonomic Failure Terminated NCT01292694 Phase 1 Losartan;Captopril;Placebo
47 The Role of Endothelin in the Supine Hypertension of Autonomic Failure Withdrawn NCT01119417 Phase 1 BQ123;Bq123;Saline
48 Blood Alpha-Synuclein, Gene Expression, and Smell Testing as Diagnostic and Prognostic Biomarkers in Parkinson's Disease Unknown status NCT00653783
49 Exploit the Neural Source and the Feasibility of Transcranial Direct Current Stimulation for Freezing of Gait in Parkinson's Disease and Multiple System Atrophy Unknown status NCT03721887
50 Exploratory Study to Evaluate the Effective Site for Control of Motor Coordination Function After Transcranial Direct Current Stimulation in Multiple Systemic Atrophy With Cerebellar Feature Unknown status NCT04092556

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 Multiple System Atrophy 28
2 Multiple System Atrophy 1, Susceptibility to 28 COQ2

Anatomical Context for Multiple System Atrophy 1

Organs/tissues related to Multiple System Atrophy 1:

MalaCards : Brain, Spinal Cord, Cerebellum, Bone Marrow, Eye, 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 5620)
# Title Authors PMID Year
1
Mutant COQ2 in multiple-system atrophy. 62 57 5
24988567 2014
2
Mutant COQ2 in multiple-system atrophy. 62 57 5
24988568 2014
3
Mutant COQ2 in multiple-system atrophy. 62 57 5
24988569 2014
4
Multiplex families with multiple system atrophy. 62 57 5
17420317 2007
5
SNCA variants and multiple system atrophy. 53 62 57
20437598 2010
6
SNCA variants are associated with increased risk for multiple system atrophy. 53 62 57
19475667 2009
7
Multiple system atrophy/progressive supranuclear palsy: alpha-Synuclein, synphilin, tau, and APOE. 53 62 57
11134398 2000
8
Oxidative damage linked to neurodegeneration by selective alpha-synuclein nitration in synucleinopathy lesions. 53 62 57
11062131 2000
9
Discriminating α-synuclein strains in Parkinson's disease and multiple system atrophy. 62 57
32025029 2020
10
Cellular milieu imparts distinct pathological α-synuclein strains in α-synucleinopathies. 62 57
29743672 2018
11
Mutant COQ2 in multiple-system atrophy. 62 57
24988570 2014
12
Mutations in COQ2 in familial and sporadic multiple-system atrophy. 62 57
23758206 2013
13
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. 62 57
21658278 2011
14
Definite multiple system atrophy in a German family. 62 57
19289484 2009
15
Second consensus statement on the diagnosis of multiple system atrophy. 62 57
18725592 2008
16
Phosphorylation of Ser-129 is the dominant pathological modification of alpha-synuclein in familial and sporadic Lewy body disease. 62 57
16847063 2006
17
Probable multiple system atrophy in a German family. 62 57
15146018 2004
18
Consensus statement on the diagnosis of multiple system atrophy. American Autonomic Society and American Academy of Neurology. 62 57
9869555 1998
19
Farewell to the "Shy-Drager syndrome". 62 57
8644992 1996
20
Multiple system atrophy: sporadic or familial? 62 57
8103165 1993
21
Environmental-occupational risk factors and familial associations in multiple system atrophy: a preliminary investigation. 62 57
1821673 1991
22
Selective vulnerability of urinary Onuf motoneurons in Shy-Drager syndrome. 62 57
3612199 1987
23
Genetic control of progressive autonomic failure: evidence for an association with an HLA antigen. 57
6133061 1983
24
Pathological findings in idiopathic orthostatic hypotension. Its relationship with Parkinson's disease. 57
5411677 1970
25
FAMILIAL ORTHOSTATIC HYPOTENSION. 57
14236014 1964
26
A neurological syndrome associated with orthostatic hypotension: a clinical-pathologic study. 57
14446364 1960
27
Lewy pathology in the submandibular gland of individuals with incidental Lewy body disease and sporadic Parkinson's disease. 53 62
20229352 2010
28
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. 53 62
20430832 2010
29
Involvement of 4-hydroxy-2-nonenal accumulation in multiple system atrophy. 53 62
20514294 2010
30
Reply to: SNCA variants are associated with increased risk of multiple system atrophy. 53 62
20373361 2010
31
Leucine-rich repeat kinase 2 gene-associated disease: redefining genotype-phenotype correlation. 53 62
20197701 2010
32
TDP-43 in ubiquitinated inclusions in the inferior olives in frontotemporal lobar degeneration and in other neurodegenerative diseases: a degenerative process distinct from normal ageing. 53 62
19330339 2009
33
Mitochondrial inhibitor 3-nitroproprionic acid enhances oxidative modification of alpha-synuclein in a transgenic mouse model of multiple system atrophy. 53 62
19405128 2009
34
Detection of elevated levels of soluble alpha-synuclein oligomers in post-mortem brain extracts from patients with dementia with Lewy bodies. 53 62
19155272 2009
35
Serum cholesterol levels and the risk of multiple system atrophy: a case-control study. 53 62
19185013 2009
36
Alpha-synuclein aggregation and Ser-129 phosphorylation-dependent cell death in oligodendroglial cells. 53 62
19203998 2009
37
The G2019S LRRK2 Mutation is Rare in Korean Patients with Parkinson's Disease and Multiple System Atrophy. 53 62
19513331 2009
38
Dopamine transporter immunoreactivity in peripheral blood lymphocytes in multiple system atrophy. 53 62
19089314 2009
39
LRRK2 and parkin immunoreactivity in multiple system atrophy inclusions. 53 62
18936941 2008
40
Glial cytoplasmic inclusions in neurologically normal elderly: prodromal multiple system atrophy? 53 62
18553090 2008
41
Characterization of antibodies that selectively detect alpha-synuclein in pathological inclusions. 53 62
18414880 2008
42
Associations between multiple system atrophy and polymorphisms of SLC1A4, SQSTM1, and EIF4EBP1 genes. 53 62
18442140 2008
43
Specificity and regulation of casein kinase-mediated phosphorylation of alpha-synuclein. 53 62
18451726 2008
44
Ubiquitination of alpha-synuclein by Siah-1 promotes alpha-synuclein aggregation and apoptotic cell death. 53 62
18065497 2008
45
Non-steroidal anti-inflammatory drugs have potent anti-fibrillogenic and fibril-destabilizing effects for alpha-synuclein fibrils in vitro. 53 62
18164319 2008
46
The pathophysiology and diagnosis of orthostatic hypotension. 53 62
18368300 2008
47
A more efficient enzyme-linked immunosorbent assay for measurement of alpha-synuclein in cerebrospinal fluid. 53 62
17976734 2008
48
Presynaptic and postsynaptic nigrostriatal dopaminergic functions in multiple system atrophy. 53 62
18185098 2008
49
Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses. 53 62
17653558 2007
50
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. 53 62
17984683 2007

Variations for Multiple System Atrophy 1

ClinVar genetic disease variations for Multiple System Atrophy 1:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COQ2 NM_001358921.2(COQ2):c.663G>A (p.Trp221Ter) SNV Pathogenic
1031932 rs1735008495 GRCh37: 4:84191112-84191112
GRCh38: 4:83269959-83269959
2 COQ2 NM_001358921.2(COQ2):c.878T>C (p.Val293Ala) SNV Risk Factor
60537 rs397514727 GRCh37: 4:84188812-84188812
GRCh38: 4:83267659-83267659
3 COQ2 NM_001358921.2(COQ2):c.138dup (p.Ala47fs) DUP Likely Pathogenic
631951 rs759310292 GRCh37: 4:84205779-84205780
GRCh38: 4:83284626-83284627
4 COQ2 NM_001358921.2(COQ2):c.232A>G (p.Met78Val) SNV Risk Factor
60536 rs778094136 GRCh37: 4:84205686-84205686
GRCh38: 4:83284533-83284533
5 COQ2 NM_001358921.2(COQ2):c.1009C>T (p.Arg337Ter) SNV Risk Factor
60538 rs751185256 GRCh37: 4:84185459-84185459
GRCh38: 4:83264306-83264306
6 COQ2 NM_001358921.2(COQ2):c.1010G>A (p.Arg337Gln) SNV Risk Factor
60539 rs763562410 GRCh37: 4:84185458-84185458
GRCh38: 4:83264305-83264305
7 LOC112997540, COQ2 NM_015697.9(COQ2):c.103T>G (p.Cys35Gly) SNV Uncertain Significance
1319748 GRCh37: 4:84205965-84205965
GRCh38: 4:83284812-83284812
8 MAPT NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser) SNV Uncertain Significance
638372 rs150983093 GRCh37: 17:44060834-44060834
GRCh38: 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:

6
# 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

GO Terms for Multiple System Atrophy 1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 10.28 DRD2 HTT LRRK2 MAP2 MAPT PRNP
2 neuron projection GO:0043005 10.26 TH SLC6A3 PRKN MAPT MAP2 LRRK2
3 axon GO:0030424 10.13 TH SNCG SNCA SLC6A3 MAPT LRRK2
4 cell projection GO:0042995 10.07 TH SNCA SLC6A3 PRKN MBP MAPT
5 synapse GO:0045202 10.06 DBH DRD2 LRRK2 MBP PRKN SNCA
6 terminal bouton GO:0043195 10 TH PRNP LRRK2
7 neuronal cell body GO:0043025 9.89 TH SNCG SNCB SNCA SLC6A3 MBP
8 axon terminus GO:0043679 9.85 DRD2 SLC6A3 SNCA SNCB SNCG
9 Lewy body GO:0097413 9.81 SQSTM1 PRKN
10 dopaminergic synapse GO:0098691 9.8 SLC6A3 PRKN DRD2
11 amphisome GO:0044753 9.76 SQSTM1 LRRK2
12 main axon GO:0044304 9.67 MAPT MAP2
13 inclusion body GO:0016234 9.4 SQSTM1 SNCB SNCA PRNP LRRK2 HTT

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 10.32 SNCG SNCB SNCA MBP DBH
2 response to xenobiotic stimulus GO:0009410 10.28 TH SNCA SLC6A3 MAOB DRD2
3 learning GO:0007612 10.15 TH PRKN ATXN1
4 memory GO:0007613 10.15 TH MAPT DBH ATXN1
5 negative regulation of neuron death GO:1901215 10.14 SNCA PRKN LRRK2
6 response to ethanol GO:0045471 10.14 TH SLC6A3 MAOB DRD2
7 negative regulation of protein phosphorylation GO:0001933 10.14 PRNP PRKN LRRK2 DRD2
8 adult locomotory behavior GO:0008344 10.13 SNCG SNCA PRKN
9 synaptic vesicle endocytosis GO:0048488 10.11 SNCA SNCB SNCG
10 synapse organization GO:0050808 10.11 MAPT SNCA SNCB SNCG
11 protein destabilization GO:0031648 10.1 SNCA PRNP PRKN HTT
12 positive regulation of neuron death GO:1901216 10.08 MAPT PRNP SNCA
13 response to amphetamine GO:0001975 10.07 TH DRD2 DBH
14 amyloid fibril formation GO:1990000 10.04 MAPT PRKN SNCA
15 response to nicotine GO:0035094 10.03 TH SLC6A3 DRD2
16 locomotory behavior GO:0007626 10.02 TH SLC6A3 PRKN DRD2 DBH
17 protein localization to mitochondrion GO:0070585 9.97 PRKN LRRK2
18 behavioral response to ethanol GO:0048149 9.97 DRD2 DBH
19 adenohypophysis development GO:0021984 9.96 DRD2 SLC6A3
20 regulation of mitochondrial fission GO:0090140 9.96 LRRK2 MAPT
21 positive regulation of autophagy of mitochondrion GO:1903599 9.95 PRKN HTT
22 intracellular distribution of mitochondria GO:0048312 9.95 MAPT LRRK2
23 cellular response to manganese ion GO:0071287 9.95 TH PRKN LRRK2
24 regulation of locomotion GO:0040012 9.94 SNCA LRRK2
25 norepinephrine biosynthetic process GO:0042421 9.94 TH DBH
26 dopamine biosynthetic process GO:0042416 9.93 TH SNCA SLC6A3
27 regulation of dopamine secretion GO:0014059 9.92 SNCG SNCA PRKN DRD2
28 dopamine catabolic process GO:0042420 9.91 DBH MAOB SLC6A3
29 regulation of synaptic vesicle transport GO:1902803 9.88 PRKN LRRK2
30 hyaloid vascular plexus regression GO:1990384 9.88 TH SLC6A3 DRD2
31 regulation of CAMKK-AMPK signaling cascade GO:1905289 9.86 LRRK2 HTT
32 regulation of neuron death GO:1901214 9.86 LRRK2 SNCA SNCB SNCG
33 regulation of neurotransmitter secretion GO:0046928 9.83 SNCG SNCA PRKN
34 regulation of neurotransmitter uptake GO:0051580 9.75 GFAP DRD2
35 dopamine metabolic process GO:0042417 9.7 SNCB SNCA PRKN DRD2
36 catecholamine biosynthetic process GO:0042423 9.61 TH DBH
37 synaptic transmission, dopaminergic GO:0001963 9.35 TH SNCA PRKN DRD2
38 dopamine uptake involved in synaptic transmission GO:0051583 9.23 SNCA SLC6A3 PRKN DRD2

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.32 ATXN1 DRD2 GFAP HTT LRRK2 MAOB
2 copper ion binding GO:0005507 9.8 SNCA PRNP DBH
3 dopamine binding GO:0035240 9.63 TH SLC6A3 DRD2
4 tubulin binding GO:0015631 9.56 PRNP PRKN MAPT MAP2 LRRK2
5 cuprous ion binding GO:1903136 9.23 SNCG SNCB SNCA PRNP

Sources for Multiple System Atrophy 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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