PedAM
Pediatric Disease Annotations & Medicines
| motor neuron disease | ||||
| Disease ID | 530 |
|---|---|
| Disease | motor neuron disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) C0497327 | dementia | 11 C0338451 | frontotemporal dementia | 6 C0011168 | dysphagia | 2 C0242422 | parkinsonism | 2 C0026838 | spasticity | 1 C0003537 | aphasia | 1 C0008489 | chorea | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:31) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912431 | 9689131 | 6647 | SOD1 | umls:C0085084 | BeFree | To investigate the role of neurofilaments in motor neuron disease caused by superoxide dismutase (SOD1) mutations, transgenic mice expressing a amyotrophic lateral sclerosis-linked SOD1 mutant (SOD1(G37R)) were mated with transgenic mice expressing human neurofilament heavy (NF-H) subunits. | 0.163520083 | 1998 | SOD1 | 21 | 31663829 | G | A |
| rs121912431 | 16046140 | 6647 | SOD1 | umls:C0085084 | BeFree | The establishment of this SOD1-G37R cDNA transgenic model indicates that expression of mutant SOD1 proteins in the neuromuscular unit is sufficient to cause motor neuron disease. | 0.163520083 | 2005 | SOD1 | 21 | 31663829 | G | A |
| rs121912436 | 20573565 | 6647 | SOD1 | umls:C0085084 | BeFree | Wild-type human SOD1 overexpression does not accelerate motor neuron disease in mice expressing murine Sod1 G86R. | 0.163520083 | 2010 | SOD1 | 21 | 31667274 | G | C |
| rs121912438 | 17853944 | 1666 | DECR1 | umls:C0085084 | BeFree | Here we determined that dysregulated redox stress in ALS mice caused by NADPH oxidases Nox1 and Nox2 significantly influenced the progression of motor neuron disease caused by mutant SOD1(G93A) expression. | 0.000271442 | 2007 | SOD1 | 21 | 31667299 | G | C |
| rs121912438 | 9633809 | 6647 | SOD1 | umls:C0085084 | BeFree | In the present study, we investigated the time course of microglial (major histocompatibility-II antigen immunoreactivity) and astrocytic (glial fibrillary acidic protein immunoreactivity) activation in relation to the course of motor neuron disease in the TgN(SOD1-G93A)G1H FALS mice. | 0.163520083 | 1998 | SOD1 | 21 | 31667299 | G | C |
| rs121912438 | 11011020 | 6647 | SOD1 | umls:C0085084 | BeFree | We therefore studied whether motor neuron disease (MND) in mice expressing the human SOD1 mutant G93A is dependent on p53 by crossing G93A mice with p53-knockout mice. | 0.163520083 | 2000 | SOD1 | 21 | 31667299 | G | C |
| rs121912438 | 16973244 | 6647 | SOD1 | umls:C0085084 | BeFree | To test whether ALS2 plays a protective role against mutant SOD1-mediated motor neuron degeneration in vivo, we examined the progression of motor neuron disease in SOD1(G93A) mice on an ALS2 null background. | 0.163520083 | 2007 | SOD1 | 21 | 31667299 | G | C |
| rs121912438 | 9633809 | 2670 | GFAP | umls:C0085084 | BeFree | In the present study, we investigated the time course of microglial (major histocompatibility-II antigen immunoreactivity) and astrocytic (glial fibrillary acidic protein immunoreactivity) activation in relation to the course of motor neuron disease in the TgN(SOD1-G93A)G1H FALS mice. | 0.000542884 | 1998 | SOD1 | 21 | 31667299 | G | C |
| rs121912438 | 16973244 | 57679 | ALS2 | umls:C0085084 | BeFree | To test whether ALS2 plays a protective role against mutant SOD1-mediated motor neuron degeneration in vivo, we examined the progression of motor neuron disease in SOD1(G93A) mice on an ALS2 null background. | 0.006524536 | 2007 | SOD1 | 21 | 31667299 | G | C |
| rs121912438 | 9382875 | 6647 | SOD1 | umls:C0085084 | BeFree | Since the mechanism whereby mutations in SOD1 lead to MND remains enigmatic, we asked whether NF inclusions in motor neurons compromise axonal transport during the onset and progression of MND in a line of mice that contained approximately 30% fewer copies of the transgene than the original G93A (Gurney et al., 1994). | 0.163520083 | 1997 | SOD1 | 21 | 31667299 | G | C |
| rs121912438 | 17853944 | 6647 | SOD1 | umls:C0085084 | BeFree | Here we determined that dysregulated redox stress in ALS mice caused by NADPH oxidases Nox1 and Nox2 significantly influenced the progression of motor neuron disease caused by mutant SOD1(G93A) expression. | 0.163520083 | 2007 | SOD1 | 21 | 31667299 | G | C |
| rs121912438 | 17853944 | 27035 | NOX1 | umls:C0085084 | BeFree | Here we determined that dysregulated redox stress in ALS mice caused by NADPH oxidases Nox1 and Nox2 significantly influenced the progression of motor neuron disease caused by mutant SOD1(G93A) expression. | 0.000271442 | 2007 | SOD1 | 21 | 31667299 | G | C |
| rs121912438 | 12384220 | 6647 | SOD1 | umls:C0085084 | BeFree | These findings suggest that the expression of the SOD1(G93A G1H) mutant protein results in a disease that resembles the late stages of human motor neuron disease. | 0.163520083 | 2002 | SOD1 | 21 | 31667299 | G | C |
| rs121912438 | 16049935 | 6647 | SOD1 | umls:C0085084 | BeFree | Mice that overexpress the human Cu,Zn superoxide dismutase-1 mutant G93A develop a delayed and progressive motor neuron disease similar to human amyotrophic lateral sclerosis (ALS). | 0.163520083 | 2005 | SOD1 | 21 | 31667299 | G | C |
| rs121912438 | 8610185 | 6647 | SOD1 | umls:C0085084 | BeFree | Transgenic mice (line G1H) expressing a human SOD1 containing a mutation of Gly-93 --> Ala (G93A) develop a motor neuron disease similar to familial amyotrophic lateral sclerosis, but transgenic mice (line N1029) expressing a wild-type human SOD1 transgene do not. | 0.163520083 | 1996 | SOD1 | 21 | 31667299 | G | C |
| rs121912438 | 19683573 | 6647 | SOD1 | umls:C0085084 | BeFree | We next applied CME repeatedly to living Wld(S) mice and to SOD1(G93A) mice, an animal model of motor neuron disease, and observed degeneration of identified neuromuscular synapses over a 1-4day period in both of these mutant lines. | 0.163520083 | 2009 | SOD1 | 21 | 31667299 | G | C |
| rs121912438 | 14736504 | 6647 | SOD1 | umls:C0085084 | BeFree | To determine where and when the pathological changes of motor neuron disease begins, we performed a comprehensive spatiotemporal analysis of disease progression in SOD1(G93A) mice. | 0.163520083 | 2004 | SOD1 | 21 | 31667299 | G | C |
| rs121912443 | 25762155 | 6647 | SOD1 | umls:C0085084 | BeFree | We found that peroxidized Cys111 of H46R SOD1 plays a role in promoting formation of high molecular weight insoluble SOD1 species that is correlated with the progression of the motor neuron disease phenotype. | 0.163520083 | 2015 | SOD1 | 21 | 31663857 | A | G |
| rs121912443 | 21453731 | 6647 | SOD1 | umls:C0085084 | BeFree | To address this issue, we here investigate whether absence of GFAP affects the phenotypic expression of motor neuron disease (MND) using an H46R mutant Cu/Zn superoxide dismutase-expressing mouse model of ALS (SOD1(H46R)). | 0.163520083 | 2011 | SOD1 | 21 | 31663857 | A | G |
| rs121912443 | 17549011 | 6647 | SOD1 | umls:C0085084 | BeFree | Motor neuron disease in transgenic mice with an H46R mutant SOD1 gene. | 0.163520083 | 2007 | SOD1 | 21 | 31663857 | A | G |
| rs137852972 | 21750110 | 26580 | BSCL2 | umls:C0085084 | BeFree | N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress. | 0.001085767 | 2011 | BSCL2;HNRNPUL2-BSCL2 | 11 | 62702499 | T | C |
| rs1990622 | 24385136 | 203228 | C9orf72 | umls:C0085084 | BeFree | We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays. | 0.006243163 | 2013 | NA | 7 | 12244161 | A | G |
| rs1990622 | 24385136 | 54664 | TMEM106B | umls:C0085084 | BeFree | We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays. | 0.000271442 | 2013 | NA | 7 | 12244161 | A | G |
| rs267606673 | 24754450 | 7415 | VCP | umls:C0085084 | BeFree | Immunoprecipitation assays revealed abnormal interaction between ATP7A(T994I) and p97/VCP, a protein mutated in two autosomal dominant forms of motor neuron disease. | 0.001357209 | 2014 | ATP7A | X | 78029314 | C | T |
| rs267606673 | 24754450 | 538 | ATP7A | umls:C0085084 | BeFree | Immunoprecipitation assays revealed abnormal interaction between ATP7A(T994I) and p97/VCP, a protein mutated in two autosomal dominant forms of motor neuron disease. | 0.000271442 | 2014 | ATP7A | X | 78029314 | C | T |
| rs28942073 | 23127958 | 3074 | HEXB | umls:C0085084 | BeFree | In summary, H235Y is the first mutation in the β-sheet of the (β/α)₈-barrel domain of the β-subunit that abolishes α-β and β-β dimer formation; the presented patient is the second patient to exhibit the motor neuron disease phenotype with P417L and a non-functional allele of HEXB. | 0.000542884 | 2013 | HEXB | 5 | 74718804 | C | T |
| rs3173615 | 24385136 | 54664 | TMEM106B | umls:C0085084 | BeFree | We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays. | 0.000271442 | 2013 | TMEM106B | 7 | 12229791 | C | G |
| rs3173615 | 24385136 | 203228 | C9orf72 | umls:C0085084 | BeFree | We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays. | 0.006243163 | 2013 | TMEM106B | 7 | 12229791 | C | G |
| rs63750092 | 15883319 | 4137 | MAPT | umls:C0085084 | BeFree | A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. | 0.000814326 | 2005 | MAPT | 17 | 46014277 | A | T |
| rs74315431 | 20207736 | 9217 | VAPB | umls:C0085084 | BeFree | These results shed light on the mechanism by which VAP-B(P56S) aggregates are formed and induce familial motor neuron diseases. | 0.001628651 | 2010 | VAPB | 20 | 58418318 | C | T |
| rs80265967 | 17146286 | 6647 | SOD1 | umls:C0085084 | BeFree | Motor neuron disease in mice expressing the wild type-like D90A mutant superoxide dismutase-1. | 0.163520083 | 2006 | SOD1 | 21 | 31667290 | A | C |
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:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:7) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0085084 | baclofen | D001418 | 1134-47-0 | motor neuron disease | MESH:D016472 | therapeutic | 18385632 | ||
| C0085084 | dapsone | D003622 | 80-08-0 | motor neuron disease | MESH:D016472 | marker/mechanism | 9251603 | ||
| C0085084 | methotrexate | D008727 | 1959/5/2 | motor neuron disease | MESH:D016472 | marker/mechanism | 11241435 | ||
| C0085084 | nitric oxide | D009569 | 10102-43-9 | motor neuron disease | MESH:D016472 | marker/mechanism | 7885422 | ||
| C0085084 | phenytoin | D010672 | 57-41-0 | motor neuron disease | MESH:D016472 | marker/mechanism | 856594 | ||
| C0085084 | progesterone | D011374 | 57-83-0 | motor neuron disease | MESH:D016472 | therapeutic | 22486171 | ||
| C0085084 | vincristine | D014750 | - | motor neuron disease | MESH:D016472 | marker/mechanism | 10390891 | ||
FDA approved drug and dosage information(Total Drugs:1) | ||||||||
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| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D016472 | inomax | nitric oxide | 100PPM Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons | GAS;INHALATION | Discontinued | None | Yes | No |
FDA labeling changes(Total Drugs:1) | |||||||||||||
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| DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
| MESH:D016472 | 12/21/2010 | inomax | nitric oxide | Prevention of bronchopulmonary dysplasia | INOmax is not indicated for prevention of BPD in preterm neonates d 34 weeks gestational age.Efficacy for the prevention of BPD in preterm infants was not established in three ldouble-blind, placebo-controlled clinical trials in a total of 2,149 preterm infants Information on clinical trials, adverse reaction | Labeling | B | - | - | - | INO Therapeutics | 2/11/2010 | FALSE' |