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	multiple system atrophy

Disease ID	206
Disease	multiple system atrophy
Definition	A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)
Synonym	autonomic failure, progressive autonomic failures, progressive dragers shy syndrome dysautonomia orthostatic hypotension syndrome dysautonomia-orthostatic hypotension syndrome dysautonomia-orthostatic hypotension syndromes dysautonomic orthostatic hypotension dysautonomic orthostatic hypotensions failure, progressive autonomic failures, progressive autonomic hypotension syndrome, dysautonomia-orthostatic hypotension syndromes, dysautonomia-orthostatic hypotension, dysautonomic orthostatic hypotensions, dysautonomic orthostatic idiopathic orthostatic hypotension, shy drager type idiopathic orthostatic hypotension, shy-drager type orthostatic hypotension dysautonomic syndrome orthostatic hypotension, dysautonomic orthostatic hypotensions, dysautonomic progressive autonomic failure progressive autonomic failures shy drager syndrome shy dragers syndrome shy-drager syndrome shy-drager syndrome (disorder) shy-drager syndrome [disease/finding] syndrome, dysautonomia orthostatic hypotension syndrome, dysautonomia-orthostatic hypotension syndrome, shy-drager syndromes, dysautonomia-orthostatic hypotension
Orphanet	ORPHANET:102
DOID	DOID:4752
UMLS	C0037019
MeSH	D012791 D019578
SNOMED-CT	SNOMEDCT_US_2016_09_01:16576004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:24) C0004134 \| ataxia \| 7 C0030567 \| parkinson's disease \| 7 C0497327 \| dementia \| 6 C0007758 \| cerebellar ataxia \| 6 C0030567 \| parkinson disease \| 2 C0524851 \| neurodegenerative disease \| 1 C0024408 \| machado-joseph disease \| 1 C0037019 \| shy-drager syndrome \| 1 C0037315 \| sleep-disordered breathing \| 1 C0037317 \| sleep disturbance \| 1 C0033975 \| psychosis \| 1 C0017205 \| gaucher disease \| 1 C0752347 \| dementia with lewy bodies \| 1 C0028968 \| olivo-ponto-cerebellar atrophy \| 1 C0679466 \| cognitive deficits \| 1 C0035258 \| restless legs syndrome \| 1 C0393571 \| multiple system atrophy \| 1 C0011269 \| vascular dementia \| 1 C0024408 \| joseph disease \| 1 C0037317 \| sleep disturbances \| 1 C0035229 \| respiratory insufficiency \| 1 C0005586 \| bipolar disorder \| 1 C0751772 \| rem sleep behavior disorder \| 1 C0037315 \| sleep apnea \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 551 \| AVP \| CTD_human 6622 \| SNCA \| GHR 27235 \| COQ2 \| CLINVAR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:23) 131 \| ADH7 \| CIPHER 1565 \| CYP2D6 \| CIPHER 1978 \| EIF4EBP1 \| CIPHER 2120 \| ETV6 \| CIPHER 2477 \| FRAXA \| CIPHER 2629 \| GBA \| CIPHER 3383 \| ICAM1 \| CIPHER 3586 \| IL10 \| CIPHER 3552 \| IL1A \| CIPHER 3553 \| IL1B \| CIPHER 3569 \| IL6 \| CIPHER 120892 \| LRRK2 \| CIPHER 79648 \| MCPH1 \| CIPHER 4487 \| MSX1 \| CIPHER 81706 \| PPP1R14C \| CIPHER 12 \| SERPINA3 \| CIPHER 6509 \| SLC1A4 \| CIPHER 6622 \| SNCA \| CIPHER 8878 \| SQSTM1 \| CIPHER 7040 \| TGFB1 \| CIPHER 7124 \| TNF \| CIPHER 7345 \| UCHL1 \| CIPHER 551 \| AVP \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:117) 131 \| ADH7 \| 1.331 \| DISEASES 54840 \| APTX \| 1.886 \| DISEASES 84938 \| ATG4C \| 3.047 \| DISEASES 57130 \| ATP13A1 \| 2.913 \| DISEASES 23400 \| ATP13A2 \| 1.7 \| DISEASES 6311 \| ATXN2 \| 2.06 \| DISEASES 4287 \| ATXN3 \| 4.549 \| DISEASES 6314 \| ATXN7 \| 3.079 \| DISEASES 551 \| AVP \| 2.434 \| DISEASES 617 \| BCS1L \| 1.292 \| DISEASES 627 \| BDNF \| 1.316 \| DISEASES 203228 \| C9orf72 \| 3.483 \| DISEASES 773 \| CACNA1A \| 4.202 \| DISEASES 23066 \| CAND2 \| 2.074 \| DISEASES 875 \| CBS \| 4.168 \| DISEASES 1020 \| CDK5 \| 1.489 \| DISEASES 1103 \| CHAT \| 2.302 \| DISEASES 51142 \| CHCHD2 \| 1.823 \| DISEASES 26586 \| CKAP2 \| 1.227 \| DISEASES 1486 \| CTBS \| 1.376 \| DISEASES 1565 \| CYP2D6 \| 1.566 \| DISEASES 1621 \| DBH \| 4.309 \| DISEASES 1644 \| DDC \| 2.843 \| DISEASES 79947 \| DHDDS \| 1.252 \| DISEASES 1813 \| DRD2 \| 2.017 \| DISEASES 1837 \| DTNA \| 1.159 \| DISEASES 90141 \| EFCAB11 \| 2.924 \| DISEASES 6785 \| ELOVL4 \| 1.125 \| DISEASES 79993 \| ELOVL7 \| 2.676 \| DISEASES 2029 \| ENSA \| 1.593 \| DISEASES 2187 \| FANCB \| 1.064 \| DISEASES 494188 \| FBXO47 \| 3.307 \| DISEASES 2332 \| FMR1 \| 2.464 \| DISEASES 2395 \| FXN \| 1.359 \| DISEASES 5349 \| FXYD3 \| 2.305 \| DISEASES 2643 \| GCH1 \| 2.188 \| DISEASES 2668 \| GDNF \| 1.783 \| DISEASES 2674 \| GFRA1 \| 1.856 \| DISEASES 8733 \| GPAA1 \| 1.952 \| DISEASES 2996 \| GYPE \| 1.65 \| DISEASES 8971 \| H1FX \| 1.999 \| DISEASES 10013 \| HDAC6 \| 2.212 \| DISEASES 11255 \| HRH3 \| 1.976 \| DISEASES 3064 \| HTT \| 1.577 \| DISEASES 3422 \| IDI1 \| 2.356 \| DISEASES 9118 \| INA \| 1.275 \| DISEASES 124152 \| IQCK \| 3.034 \| DISEASES 3748 \| KCNC3 \| 1.418 \| DISEASES 9211 \| LGI1 \| 1.18 \| DISEASES 387486 \| LINC00320 \| 3.281 \| DISEASES 84894 \| LINGO1 \| 1.129 \| DISEASES 81562 \| LMAN2L \| 1.765 \| DISEASES 10046 \| MAMLD1 \| 1.379 \| DISEASES 4129 \| MAOB \| 1.572 \| DISEASES 4133 \| MAP2 \| 1.65 \| DISEASES 4137 \| MAPT \| 3.837 \| DISEASES 4155 \| MBP \| 2.793 \| DISEASES 79772 \| MCTP1 \| 2.642 \| DISEASES 4192 \| MDK \| 1.223 \| DISEASES 4077 \| NBR1 \| 1.684 \| DISEASES 23154 \| NCDN \| 2.697 \| DISEASES 10528 \| NOP56 \| 1.81 \| DISEASES 256933 \| NPB \| 1.18 \| DISEASES 51667 \| NUB1 \| 1.883 \| DISEASES 53829 \| P2RY13 \| 1.717 \| DISEASES 135138 \| PACRG \| 1.551 \| DISEASES 5071 \| PARK2 \| 3.168 \| DISEASES 11315 \| PARK7 \| 2.758 \| DISEASES 10846 \| PDE10A \| 3.105 \| DISEASES 5160 \| PDHA1 \| 1.113 \| DISEASES 23590 \| PDSS1 \| 1.723 \| DISEASES 5179 \| PENK \| 1.443 \| DISEASES 5293 \| PIK3CD \| 3.412 \| DISEASES 65018 \| PINK1 \| 1.493 \| DISEASES 8398 \| PLA2G6 \| 1.546 \| DISEASES 23646 \| PLD3 \| 1.471 \| DISEASES 25894 \| PLEKHG4 \| 1.335 \| DISEASES 5451 \| POU2F1 \| 1.435 \| DISEASES 5521 \| PPP2R2B \| 2.967 \| DISEASES 5621 \| PRNP \| 1.862 \| DISEASES 5710 \| PSMD4 \| 1.405 \| DISEASES 5720 \| PSME1 \| 1.498 \| DISEASES 55269 \| PSPC1 \| 2.193 \| DISEASES 5916 \| RARG \| 1.099 \| DISEASES 146713 \| RBFOX3 \| 2.209 \| DISEASES 10636 \| RGS14 \| 2.23 \| DISEASES 25897 \| RNF19A \| 2.079 \| DISEASES 286205 \| SCAI \| 1.093 \| DISEASES 12 \| SERPINA3 \| 1.271 \| DISEASES 6906 \| SERPINA7 \| 1.173 \| DISEASES 6477 \| SIAH1 \| 1.023 \| DISEASES 6572 \| SLC18A3 \| 2.227 \| DISEASES 6575 \| SLC20A2 \| 1.015 \| DISEASES 6533 \| SLC6A6 \| 1.147 \| DISEASES 23583 \| SMUG1 \| 3.368 \| DISEASES 6622 \| SNCA \| 7.03 \| DISEASES 6623 \| SNCG \| 3.993 \| DISEASES 27044 \| SND1 \| 1.026 \| DISEASES 8878 \| SQSTM1 \| 1.954 \| DISEASES 64426 \| SUDS3 \| 1.804 \| DISEASES 7341 \| SUMO1 \| 1.92 \| DISEASES 22987 \| SV2C \| 2.022 \| DISEASES 6863 \| TAC1 \| 2.959 \| DISEASES 6949 \| TCOF1 \| 3.795 \| DISEASES 7053 \| TGM3 \| 1.678 \| DISEASES 10618 \| TGOLN2 \| 1.893 \| DISEASES 7054 \| TH \| 3.566 \| DISEASES 54664 \| TMEM106B \| 2.288 \| DISEASES 29058 \| TMEM230 \| 2.235 \| DISEASES 9804 \| TOMM20 \| 1.432 \| DISEASES 11076 \| TPPP \| 5.434 \| DISEASES 54209 \| TREM2 \| 1.421 \| DISEASES 7311 \| UBA52 \| 1.135 \| DISEASES 7322 \| UBE2D2 \| 1.457 \| DISEASES 7325 \| UBE2E2 \| 1.584 \| DISEASES 29979 \| UBQLN1 \| 1.202 \| DISEASES 81030 \| ZBP1 \| 1.283 \| DISEASES
Locus	(Waiting for update.)

Disease ID	206
Disease	multiple system atrophy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:29) HP:0100315 \| Lewy bodies \| 24 HP:0001251 \| Ataxia \| 9 HP:0001300 \| Parkinsonism \| 7 HP:0000726 \| Dementia \| 6 HP:0100543 \| Cognitive deficits \| 6 HP:0002459 \| Dysautonomia \| 4 HP:0010307 \| Stridor \| 3 HP:0002615 \| Low blood pressure \| 2 HP:0002360 \| Sleep disturbance \| 2 HP:0001278 \| Orthostatic hypotension \| 1 HP:0007302 \| Bipolar disorder \| 1 HP:0010543 \| Opsoclonus \| 1 HP:0012820 \| Bilateral vocal cord paralysis \| 1 HP:0003146 \| Decreased circulating cholesterol level \| 1 HP:0001272 \| Cerebellar atrophy \| 1 HP:0002093 \| progressive respiratory failure \| 1 HP:0002015 \| Swallowing difficulty \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0000709 \| Psychosis \| 1 HP:0002071 \| Extrapyramidal dysfunction \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0006511 \| Laryngeal stridor \| 1 HP:0001337 \| Tremor \| 1 HP:0002529 \| Neuronal loss in central nervous system \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0001605 \| Vocal cord paralysis \| 1 HP:0001268 \| Mental deterioration \| 1 HP:0002578 \| Gastroparesis \| 1 HP:0003470 \| Inability to move \| 1

Disease ID	206
Disease	multiple system atrophy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:59) C2712322 \| tachycardia C2632116 \| stenosis C2598155 \| pain C2364072 \| depression C1963946 \| laryngeal dystonia C1963093 \| dizziness C1961100 \| erectile dysfunction C1698476 \| antecollis C1695782 \| cerebral hypoperfusion C1504439 \| reversible posterior leukoencephalopathy syndrome C1145670 \| respiratory failure C0949445 \| cervical dystonia C0920233 \| pisa syndrome C0851578 \| sleep disorders C0850024 \| gluten sensitivity C0751772 \| rem sleep behaviour disorder C0700109 \| rigidity C0679466 \| cognitive deficits C0679407 \| gastrointestinal dysfunction C0585544 \| downbeat nystagmus C0497327 \| dementia C0426980 \| motor symptoms C0393911 \| autonomic failure C0393593 \| dystonia C0375381 \| intrinsic sphincter deficiency C0270871 \| facial myokymia C0264162 \| camptocormia C0242422 \| parkinsonism C0242422 \| parkinsonian syndromes C0242422 \| parkinsonian syndrome C0235946 \| cerebral atrophy C0235946 \| brain atrophy C0234165 \| hypometria C0234133 \| extrapyramidal symptoms C0234131 \| motor dysfunction C0221163 \| motor disorder C0086132 \| depressive symptoms C0038454 \| stroke C0038450 \| stridor C0037384 \| snoring C0037315 \| sleep-disordered breathing C0037315 \| sleep apnoea C0037315 \| sleep apnea syndromes C0037315 \| sleep apnea C0031117 \| peripheral neuropathy C0030552 \| paresis C0025160 \| megacolon C0023066 \| laryngeal stridor C0020649 \| hypotension C0018524 \| hallucinations C0013578 \| ectoparasitic infestation C0013363 \| dysautonomia C0011168 \| dysphagia C0008489 \| chorea C0006325 \| bruxism C0005747 \| blepharospasm C0003028 \| anhidrosis C0002871 \| anaemia C0001726 \| affective symptoms
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:14) C0242422 \| parkinsonism \| 7 C0497327 \| dementia \| 6 C0038450 \| stridor \| 3 C0013363 \| dysautonomia \| 2 C0020649 \| hypotension \| 2 C0011168 \| dysphagia \| 1 C0023066 \| laryngeal stridor \| 1 C0679466 \| cognitive deficits \| 1 C0393911 \| autonomic failure \| 1 C0009814 \| stenosis \| 1 C0426980 \| motor symptoms \| 1 C0234133 \| extrapyramidal symptoms \| 1 C0037315 \| sleep apnea \| 1 C0037315 \| sleep-disordered breathing \| 1

Manually Genotype(Total Text Mining Genotypes:0)
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Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:20)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893877	12719631	6622	SNCA	umls:C0037019	BeFree	Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) and Ala53Thr (A53T) substitutions, of the alpha-synuclein gene in certain autosomal-dominant early onset familial Parkinson's disease (PD) has greatly promoted the understanding of the role of alpha-synuclein in the pathogenesis of neurodegenerative diseases, such as PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [5,6,51,75].	0.004071628	2003	SNCA	4	89828149	C	T
rs104893877	12719631	6622	SNCA	umls:C0393571	BeFree	Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) and Ala53Thr (A53T) substitutions, of the alpha-synuclein gene in certain autosomal-dominant early onset familial Parkinson's disease (PD) has greatly promoted the understanding of the role of alpha-synuclein in the pathogenesis of neurodegenerative diseases, such as PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [5,6,51,75].	0.024437157	2003	SNCA	4	89828149	C	T
rs104893878	12719631	6622	SNCA	umls:C0037019	BeFree	Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) and Ala53Thr (A53T) substitutions, of the alpha-synuclein gene in certain autosomal-dominant early onset familial Parkinson's disease (PD) has greatly promoted the understanding of the role of alpha-synuclein in the pathogenesis of neurodegenerative diseases, such as PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [5,6,51,75].	0.004071628	2003	SNCA;SNCA-AS1	4	89835580	C	G
rs104893878	12719631	6622	SNCA	umls:C0393571	BeFree	Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) and Ala53Thr (A53T) substitutions, of the alpha-synuclein gene in certain autosomal-dominant early onset familial Parkinson's disease (PD) has greatly promoted the understanding of the role of alpha-synuclein in the pathogenesis of neurodegenerative diseases, such as PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [5,6,51,75].	0.024437157	2003	SNCA;SNCA-AS1	4	89835580	C	G
rs148156462	25200193	27235	COQ2	umls:C0393571	BeFree	COQ2 p.V393A variant is not a genetic risk factor for PD, suggesting its specificity in disease susceptibility to MSA.	0.002171535	2014	COQ2	4	83264287	A	G
rs148156462	25200193	27235	COQ2	umls:C0037019	BeFree	COQ2 p.V393A variant is not a genetic risk factor for PD, suggesting its specificity in disease susceptibility to MSA.	0.122171535	2014	COQ2	4	83264287	A	G
rs1572931	25040112	8934	RAB29	umls:C0393571	BeFree	An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy in China.	0.000271442	2014	RAB29;LOC105371702	1	205775090	C	A,T
rs1572931	25040112	8934	RAB29	umls:C0037019	BeFree	An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy in China.	0.000271442	2014	RAB29;LOC105371702	1	205775090	C	A,T
rs33949390	25511328	120892	LRRK2	umls:C0393571	BeFree	An association analysis of the R1628P and G2385R polymorphisms of the LRRK2 gene in multiple system atrophy in a Chinese population.	0.01162585	2014	LRRK2	12	40320043	G	A,C,T
rs33949390	25511328	120892	LRRK2	umls:C0037019	BeFree	An association analysis of the R1628P and G2385R polymorphisms of the LRRK2 gene in multiple system atrophy in a Chinese population.	0.001085767	2014	LRRK2	12	40320043	G	A,C,T
rs34778348	25511328	120892	LRRK2	umls:C0393571	BeFree	An association analysis of the R1628P and G2385R polymorphisms of the LRRK2 gene in multiple system atrophy in a Chinese population.	0.01162585	2014	LRRK2;LOC105369736	12	40363526	G	A
rs34778348	18450497	120892	LRRK2	umls:C0037019	BeFree	Analysis of the LRRK2 Gly2385Arg variant in primary dystonia and multiple system atrophy in Taiwan.	0.001085767	2008	LRRK2;LOC105369736	12	40363526	G	A
rs34778348	25511328	120892	LRRK2	umls:C0037019	BeFree	An association analysis of the R1628P and G2385R polymorphisms of the LRRK2 gene in multiple system atrophy in a Chinese population.	0.001085767	2014	LRRK2;LOC105369736	12	40363526	G	A
rs34778348	18450497	120892	LRRK2	umls:C0393571	BeFree	Analysis of the LRRK2 Gly2385Arg variant in primary dystonia and multiple system atrophy in Taiwan.	0.01162585	2008	LRRK2;LOC105369736	12	40363526	G	A
rs397514727	NA	27235	COQ2	umls:C0037019	CLINVAR	NA	0.122171535	NA	COQ2	4	83267659	A	G
rs431905511	23404372	6622	SNCA	umls:C0037019	BeFree	α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?	0.004071628	2013	SNCA	4	89828154	C	T
rs431905511	23404372	6622	SNCA	umls:C0393571	BeFree	α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?	0.024437157	2013	SNCA	4	89828154	C	T
rs751185256	NA	27235	COQ2	umls:C0037019	CLINVAR	NA	0.122171535	NA	COQ2	4	83264306	G	A
rs763562410	NA	27235	COQ2	umls:C0037019	CLINVAR	NA	0.122171535	NA	COQ2	4	83264305	C	T
rs778094136	NA	27235	COQ2	umls:C0037019	CLINVAR	NA	0.122171535	NA	COQ2	4	83284533	T	C,G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	206
Disease	multiple system atrophy
Case	(Waiting for update.)