PedAM
Pediatric Disease Annotations & Medicines
| multiple system atrophy | ||||
| Disease ID | 87 |
|---|---|
| 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 | 9 C0497327 | dementia | 6 C0038450 | stridor | 3 C0013363 | dysautonomia | 2 C0020649 | hypotension | 2 C0426980 | motor symptoms | 1 C0679466 | cognitive deficits | 1 C0234133 | extrapyramidal symptoms | 1 C0393911 | autonomic failure | 1 C0037315 | sleep-disordered breathing | 1 C0011168 | dysphagia | 1 C0037315 | sleep apnea | 1 C0009814 | stenosis | 1 C0023066 | laryngeal stridor | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (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) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002071 | Abnormality of extrapyramidal motor function | MP:0003880 | abnormal central pattern generator function;HP:0002059 | Cerebral atrophy |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002615 | Hypotension | MP:0008294 | abnormal adrenal gland zona fasciculata morphology;HP:0002063 | Rigidity |
Chemical(Total Drugs:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0037019 | prazosin | D011224 | 19216-56-9 | multiple system atrophy | MESH:D019578 | therapeutic | 10699651 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |