MSA1
MCID: MLT157
MIFTS: 74

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 75 38
Multiple System Atrophy 57 38 12 76 53 25 54 59 37 55 44 15 73
Shy-Drager Syndrome 12 25 54 29 6 44 73
Msa 53 25 59
Sporadic Olivopontocerebellar Atrophy 25 73
Msa1 57 75
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
Shydrager Syndrome 76
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

Classifications:

Orphanet: 59  
Rare neurological diseases


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 semantic dementia and dysautonomia. 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.. 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.

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.

UniProtKB/Swiss-Prot : 75 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 : 76 Multiple system atrophy (MSA), also known as Shy�??Drager syndrome, is a rare neurodegenerative... 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 354)
# Related Disease Score Top Affiliating Genes
1 semantic dementia 32.5 RPS27A MAPT
2 dysautonomia 32.4 SNCA PRKN
3 striatonigral degeneration 32.4 SNCA SLC6A3 DRD2
4 pure autonomic failure 32.2 TH SNCA DBH
5 synucleinopathy 31.6 TH SNCB SNCA SLC6A3 PRKN MAPT
6 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 31.5 RPS27A MAPT
7 dementia, lewy body 31.3 TH SNCB SNCA SLC6A3 RPS27A PRKN
8 tremor 30.3 SNCA PRKN MAPT LRRK2
9 supranuclear palsy, progressive, 1 30.3 TH SNCA SLC6A3 RPS27A PRKN MAPT
10 corticobasal degeneration 30.3 RPS27A MAPT LRRK2
11 aceruloplasminemia 30.2 SNCA GFAP COQ2 ATXN1
12 essential tremor 30.1 SNCA SLC6A3 PRKN LRRK2
13 rem sleep behavior disorder 30.1 SNCA SLC6A3 RPS27A LRRK2
14 motor neuron disease 29.9 SQSTM1 SNCA RPS27A MAPT
15 machado-joseph disease 29.9 SNCA SLC6A3 RPS27A ATXN1
16 perry syndrome 29.8 TH SNCA SLC6A3
17 amyotrophic lateral sclerosis 1 29.7 TH SQSTM1 SNCA RPS27A MAPT GFAP
18 dystonia 29.7 TH SQSTM1 SLC6A3 PRKN DRD2
19 stuttering 29.6 SLC6A3 DRD2 DBH
20 cocaine dependence 29.6 SLC6A3 DRD2 DBH
21 parkinson disease, late-onset 29.5 TH SNCB SNCA SLC6A3 RPS27A PRKN
22 frontotemporal dementia 29.4 SQSTM1 SNCA RPS27A MAPT LRRK2
23 restless legs syndrome 29.4 TH SNCA SLC6A3 PRKN DRD2
24 pick disease of brain 29.4 SQSTM1 SNCA RPS27A MAPT
25 bipolar disorder 29.3 TH SLC6A3 MAPT DRD2 DBH
26 dementia 29.2 SQSTM1 SNCB SNCA SLC6A3 PRKN MAPT
27 movement disease 29.1 TH SNCA SLC6A3 PRKN MAPT LRRK2
28 schizophrenia 28.9 TH SLC6A3 MBP DRD2 DBH
29 multiple system atrophy with orthostatic hypotension 12.4
30 multiple system atrophy, cerebellar type 12.3
31 multiple system atrophy, parkinsonian type 12.3
32 shwachman-diamond syndrome 1 12.0
33 salla disease 11.7
34 olivopontocerebellar atrophy 11.6
35 spinocerebellar ataxia 7 11.4
36 myopathy, lactic acidosis, and sideroblastic anemia 1 11.4
37 trichohepatoenteric syndrome 1 11.3
38 primary orthostatic hypotension 11.3
39 postural hypotension 11.3
40 spinocerebellar ataxia, x-linked 1 11.2
41 sydenham chorea 11.2
42 rheumatic encephalitis 11.2
43 deafness, autosomal dominant 69 11.2
44 olivopontocerebellar atrophy v 11.1
45 microcephaly 1, primary, autosomal recessive 11.0
46 desbuquois dysplasia 1 11.0
47 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 11.0
48 macrocephaly/autism syndrome 11.0
49 sandhoff disease 11.0
50 sickle cell - hemoglobin d disease 11.0

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

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

Human phenotypes related to Multiple System Atrophy 1:

59 32 (show all 44)
# 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 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
4 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
5 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
6 postural tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002174
7 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
8 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
9 stridor 59 32 frequent (33%) Frequent (79-30%) HP:0010307
10 orthostatic hypotension due to autonomic dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0004926
11 parkinsonism 59 32 frequent (33%) Frequent (79-30%) HP:0001300
12 raynaud phenomenon 59 32 frequent (33%) Frequent (79-30%) HP:0030880
13 postural instability 59 32 frequent (33%) Frequent (79-30%) HP:0002172
14 abnormal brain fdg positron emission tomography 59 32 frequent (33%) Frequent (79-30%) HP:0012658
15 orofacial dyskinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002310
16 gaze-evoked nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000640
17 resting tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002322
18 central sleep apnea 59 32 frequent (33%) Frequent (79-30%) HP:0010536
19 abnormal rapid eye movement sleep 59 32 frequent (33%) Frequent (79-30%) HP:0002494
20 axial dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0002530
21 autonomic bladder dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0005341
22 autonomic erectile dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0008652
23 orthostatic syncope 59 32 frequent (33%) Frequent (79-30%) HP:0012670
24 female anorgasmia 59 32 frequent (33%) Frequent (79-30%) HP:0030015
25 camptocormia 59 32 frequent (33%) Frequent (79-30%) HP:0100595
26 ptosis 32 HP:0000508
27 ataxia 32 HP:0001251
28 tremor 32 HP:0001337
29 hyperreflexia 32 HP:0001347
30 dysautonomia 59 Frequent (79-30%)
31 abnormal pyramidal signs 59 Frequent (79-30%)
32 cognitive impairment 32 occasional (7.5%) HP:0100543
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
44 abnormal pyramidal sign 32 frequent (33%) HP:0007256

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

Search Clinical Trials , 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, Cerebellum, Testes, Eye, 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 1241)
# Title Authors Year
1
Association analysis of SNP rs11868035 in SREBF1 with sporadic Parkinson's disease, sporadic amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population. ( 29128630 )
2018
2
Neurogenic bladder in progressive supranuclear palsy: A comparison with Parkinson's disease and multiple system atrophy. ( 29356135 )
2018
3
Progressive striatonigral degenerationA in a transgenic mouse model of multiple system atrophy: translational implications for interventional therapies. ( 29298733 )
2018
4
Characteristics of Early Oropharyngeal Dysphagia in Patients with Multiple System Atrophy. ( 29621788 )
2018
5
Eosinophilia in the muscle layer of the esophagus and the urinary bladder in a Multiple System Atrophy patient with dysphagia and dysuria. ( 29633461 )
2018
6
Nocturnal Hypertension in Multiple System Atrophy May Cause Posterior Reversible Encephalopathy Syndrome. ( 29877278 )
2018
7
Quadratus Lumborum Block as Sole, Homeostatic-Preserving Anesthetic for a Patient with Multiple System Atrophy Undergoing Open Inguinal Hernia Repair: A Case Report. ( 30050698 )
2018
8
Erratum to "Quadratus Lumborum Block as Sole, Homeostatic-Preserving Anesthetic for a Patient with Multiple System Atrophy Undergoing Open Inguinal Hernia Repair: A Case Report". ( 30210875 )
2018
9
The relationship between four GWAS-identified loci in Alzheimer's disease and the risk of Parkinson's disease, amyotrophic lateral sclerosis, and multiple system atrophy. ( 30144538 )
2018
10
Determining the Effect of the HNMT, STK39, and NMD3 Polymorphisms on the Incidence of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Multiple System Atrophy in Chinese Populations. ( 29564728 )
2018
11
Efficacy of denosumab in two cases with multiple-system atrophy and osteoporosis. ( 29765223 )
2018
12
Breathing Irregularity Is Independently Associated With the Severity of Obstructive Sleep Apnea in Patients With Multiple System Atrophy. ( 30353807 )
2018
13
A case of multiple system atrophy-parkinsonian type with stuttering- and palilalia-like dysfluencies and putaminal atrophy. ( 29157667 )
2018
14
Oligodendroglial A-synucleinopathy driven neuroinflammation in multiple system atrophy. ( 30444295 )
2018
15
3-Hz postural tremor in multiple system atrophy cerebellar type (MSA-C)-a static posturography study. ( 29027029 )
2018
16
The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy. ( 30242188 )
2018
17
Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy. ( 30254015 )
2018
18
Comparison of gait parameters between drug-naïve patients diagnosed with multiple system atrophy with predominant parkinsonism and Parkinson's disease. ( 30266299 )
2018
19
NLRP3 Inflammasome-Related Proteins Are Upregulated in the Putamen of Patients With Multiple System Atrophy. ( 30295793 )
2018
20
Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy. ( 30344007 )
2018
21
High Resolution Manofluorographic Study in Patients With Multiple System Atrophy: Possible Early Detection of Upper Esophageal Sphincter and Proximal Esophageal Abnormality. ( 30345277 )
2018
22
Effects of anodal tDCS on motor and cognitive function in a patient with multiple system atrophy. ( 30345833 )
2018
23
Sleep-Disordered Breathing in Multiple System Atrophy: Pathophysiology and New Insights for Diagnosis and Treatment. ( 30353833 )
2018
24
MRI evaluation of progressive supranuclear palsy: differentiation from Parkinson's disease and multiple system atrophy. ( 30373485 )
2018
25
Clinical characteristics and quality of life in Chinese patients with multiple system atrophy. ( 30378279 )
2018
26
Clinics in diagnostic imaging (191). Multiple system atrophy-cerebellar type (MSA-C). ( 30386855 )
2018
27
Anle138b modulates α-synuclein oligomerization and prevents motor decline and neurodegeneration in a mouse model of multiple system atrophy. ( 30452793 )
2018
28
An update on advances in magnetic resonance imaging of multiple system atrophy. ( 30460448 )
2018
29
Parkinson's disease and multiple system atrophy have distinct α-synuclein seed characteristics. ( 30478174 )
2018
30
Treatment of multiple system atrophy - the past, present and future. ( 30498625 )
2018
31
Stridor-related gray matter alterations in multiple system atrophy: A pilot study. ( 30509725 )
2018
32
Abnormal functional connectivity of the amygdala is associated with depressive symptoms in patients with multiple system atrophy. ( 30532544 )
2018
33
Anesthesia in Patients With Multiple-System Atrophy: A Narrative Review and Practice Guidance. ( 30550435 )
2018
34
Altered structural connectivity of the motor subnetwork in multiple system atrophy with cerebellar features. ( 30552481 )
2018
35
5-methylcytosine and 5-hydroxymethylcytosine in brains of patients with multiple system atrophy and patients with Parkinson's disease. ( 30557654 )
2018
36
Multiple system atrophy: experimental models and reality. ( 29058121 )
2018
37
Ocular features of multiple system atrophy. ( 29066238 )
2018
38
Coenzyme Q10 Supplementation in Orthostatic Hypotension and Multiple-System Atrophy: A Report on 7 Cases. ( 29080629 )
2018
39
Altered gut microbiome and metabolome in patients with multiple system atrophy. ( 29083071 )
2018
40
Symptomatic therapy of multiple system atrophy. ( 29104019 )
2018
41
Cerebrospinal fluid levels of coenzyme Q10 are reduced in multiple system atrophy. ( 29107645 )
2018
42
Diagnosis of multiple system atrophy. ( 29111419 )
2018
43
Serum microRNA expression profiling in patients with multiple system atrophy. ( 29115515 )
2018
44
The neuropathology of multiple system atrophy and its therapeutic implications. ( 29169744 )
2018
45
Evaluation of autonomic functions of patients with multiple system atrophy and Parkinson's disease by head-up tilt test. ( 29185078 )
2018
46
Simple linear brainstem MRI measurements in the differential diagnosis of progressive supranuclear palsy from the parkinsonian variant of multiple system atrophy. ( 29196955 )
2018
47
123I-FP-CIT SPECT Accurately Distinguishes Parkinsonian From Cerebellar Variant of Multiple System Atrophy. ( 29215405 )
2018
48
Neuropsychological and clinical heterogeneity of cognitive impairment in patients with multiple system atrophy. ( 29223069 )
2018
49
Recommendations of the Global Multiple System Atrophy Research Roadmap Meeting. ( 29237794 )
2018
50
A new CHCHD2 mutation identified in a southern italy patient with multiple system atrophy. ( 29248339 )
2018

Variations for Multiple System Atrophy 1

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

75 (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

ClinVar genetic disease variations for Multiple System Atrophy 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COQ2 NM_015697.7(COQ2): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic,risk factor rs778094136 GRCh37 Chromosome 4, 84205686: 84205686
2 COQ2 NM_015697.7(COQ2): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic,risk factor rs778094136 GRCh38 Chromosome 4, 83284533: 83284533
3 COQ2 NM_015697.7(COQ2): c.1028T> C (p.Val343Ala) single nucleotide variant risk factor rs397514727 GRCh37 Chromosome 4, 84188812: 84188812
4 COQ2 NM_015697.7(COQ2): c.1028T> C (p.Val343Ala) single nucleotide variant risk factor rs397514727 GRCh38 Chromosome 4, 83267659: 83267659
5 COQ2 NM_015697.7(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 GRCh37 Chromosome 4, 84185459: 84185459
6 COQ2 NM_015697.7(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 GRCh38 Chromosome 4, 83264306: 83264306
7 COQ2 NM_015697.7(COQ2): c.1160G> A (p.Arg387Gln) single nucleotide variant risk factor rs763562410 GRCh37 Chromosome 4, 84185458: 84185458
8 COQ2 NM_015697.7(COQ2): c.1160G> A (p.Arg387Gln) single nucleotide variant risk factor rs763562410 GRCh38 Chromosome 4, 83264305: 83264305

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 DBH DRD2 LRRK2 SQSTM1 TH
2 mitochondrion GO:0005739 9.92 COQ2 GLUD1 LRRK2 MAPT PRKN SNCA
3 lysosome GO:0005764 9.86 GFAP LRRK2 SNCA SQSTM1
4 neuron projection GO:0043005 9.77 LRRK2 MAPT PRKN SLC6A3 TH
5 growth cone GO:0030426 9.76 LRRK2 MAPT SNCA
6 synaptic vesicle GO:0008021 9.75 LRRK2 SNCA TH
7 perikaryon GO:0043204 9.74 DRD2 LRRK2 TH
8 presynapse GO:0098793 9.72 PRKN SNCA SNCB
9 synaptic vesicle membrane GO:0030672 9.65 DRD2 LRRK2 SNCA
10 neuronal cell body GO:0043025 9.63 LRRK2 MAPT MBP SLC6A3 SNCA TH
11 terminal bouton GO:0043195 9.58 LRRK2 SNCA TH
12 dopaminergic synapse GO:0098691 9.52 DRD2 SLC6A3
13 glial cell projection GO:0097386 9.51 GFAP MAPT
14 autolysosome GO:0044754 9.49 LRRK2 SQSTM1
15 Lewy body GO:0097413 9.43 PRKN SQSTM1
16 axon GO:0030424 9.43 DRD2 LRRK2 MAPT SLC6A3 SNCA TH
17 amphisome GO:0044753 9.26 LRRK2 SQSTM1
18 inclusion body GO:0016234 8.92 LRRK2 SNCA SNCB SQSTM1
19 cytoplasm GO:0005737 10.27 ATXN1 DBH GFAP GLUD1 LRRK2 MAPT

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 DRD2 SLC6A3 SNCA TH
2 chemical synaptic transmission GO:0007268 9.94 DBH MBP SNCA SNCB
3 negative regulation of neuron apoptotic process GO:0043524 9.89 PRKN SNCA SNCB
4 membrane organization GO:0061024 9.88 MBP RPS27A SNCA
5 response to ethanol GO:0045471 9.85 DRD2 SLC6A3 TH
6 mitochondrion organization GO:0007005 9.83 LRRK2 PRKN SQSTM1
7 autophagy GO:0006914 9.81 DRD2 LRRK2 PRKN SQSTM1
8 excitatory postsynaptic potential GO:0060079 9.78 DRD2 LRRK2 SNCA
9 regulation of autophagy GO:0010506 9.77 LRRK2 MAPT PRKN
10 learning GO:0007612 9.76 ATXN1 PRKN TH
11 regulation of reactive oxygen species metabolic process GO:2000377 9.72 PRKN SNCA
12 negative regulation of neuron death GO:1901215 9.72 LRRK2 PRKN SNCA
13 regulation of long-term neuronal synaptic plasticity GO:0048169 9.71 DRD2 SNCA
14 regulation of neurotransmitter secretion GO:0046928 9.71 PRKN SNCA
15 behavioral response to cocaine GO:0048148 9.71 DRD2 SNCA
16 synapse organization GO:0050808 9.71 MAPT SNCA SNCB
17 memory GO:0007613 9.71 ATXN1 DBH MAPT TH
18 regulation of neuron death GO:1901214 9.7 LRRK2 SNCA
19 microglial cell activation GO:0001774 9.7 MAPT SNCA
20 response to metal ion GO:0010038 9.7 SNCB TH
21 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.69 LRRK2 PRKN
22 positive regulation of long-term synaptic potentiation GO:1900273 9.69 DRD2 SQSTM1
23 response to iron ion GO:0010039 9.69 DRD2 SLC6A3
24 regulation of mitochondrion organization GO:0010821 9.68 PRKN SQSTM1
25 startle response GO:0001964 9.68 DRD2 PRKN
26 axon development GO:0061564 9.68 GFAP MAPT
27 striatum development GO:0021756 9.67 DRD2 LRRK2
28 prepulse inhibition GO:0060134 9.67 DRD2 SLC6A3
29 response to cocaine GO:0042220 9.67 DRD2 SLC6A3 SNCA
30 negative regulation of protein phosphorylation GO:0001933 9.67 DRD2 LRRK2 PRKN SNCA
31 cellular response to dopamine GO:1903351 9.66 LRRK2 PRKN
32 neurotransmitter biosynthetic process GO:0042136 9.66 SLC6A3 TH
33 supramolecular fiber organization GO:0097435 9.65 MAPT SNCA
34 regulation of dopamine metabolic process GO:0042053 9.65 PRKN SLC6A3
35 response to nicotine GO:0035094 9.65 DRD2 SLC6A3 TH
36 adenohypophysis development GO:0021984 9.64 DRD2 SLC6A3
37 behavioral response to ethanol GO:0048149 9.63 DBH DRD2
38 intracellular distribution of mitochondria GO:0048312 9.63 LRRK2 MAPT
39 regulation of locomotion GO:0040012 9.62 LRRK2 SNCA
40 dopamine catabolic process GO:0042420 9.62 DBH SLC6A3
41 regulation of mitochondrial fission GO:0090140 9.61 LRRK2 MAPT
42 response to amphetamine GO:0001975 9.61 DBH DRD2 TH
43 protein localization to mitochondrion GO:0070585 9.59 LRRK2 PRKN
44 catecholamine biosynthetic process GO:0042423 9.58 DBH TH
45 mitophagy GO:0000423 9.57 PRKN SQSTM1
46 norepinephrine biosynthetic process GO:0042421 9.56 DBH TH
47 locomotory behavior GO:0007626 9.55 DBH DRD2 PRKN SLC6A3 TH
48 dopamine uptake involved in synaptic transmission GO:0051583 9.52 PRKN SNCA
49 dopamine biosynthetic process GO:0042416 9.5 SLC6A3 SNCA TH
50 regulation of synaptic vesicle transport GO:1902803 9.46 LRRK2 PRKN

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 LRRK2 MAPT PRKN SNCA
2 enzyme binding GO:0019899 9.55 MAPT PRKN SNCA SQSTM1 TH
3 ferrous iron binding GO:0008198 9.43 SNCA TH
4 tubulin binding GO:0015631 9.43 LRRK2 MAPT PRKN
5 phospholipase binding GO:0043274 9.37 PRKN SNCA
6 cuprous ion binding GO:1903136 9.32 SNCA SNCB
7 identical protein binding GO:0042802 9.28 ATXN1 DRD2 GFAP GLUD1 LRRK2 MAPT
8 dopamine binding GO:0035240 9.13 DRD2 SLC6A3 TH

Sources for Multiple System Atrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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