PedAM
Pediatric Disease Annotations & Medicines
| muscular atrophy | ||||
| Disease ID | 523 |
|---|---|
| Disease | muscular atrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1135207 | ataxia |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:10) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs116840805 | 17039257 | 5063 | PAK3 | umls:C0026846 | BeFree | Loss of caveolin-3 in P104L mutant caveolin-3 transgenic mice caused muscular atrophy with increase in phosphorylated Smad2 (p-Smad2) as well as p21 (also known as Cdkn1a), a myostatin target gene. | 0.000271442 | 2006 | CAV3;SSUH2 | 3 | 8745725 | C | T |
| rs116840805 | 17039257 | 1026 | CDKN1A | umls:C0026846 | BeFree | Loss of caveolin-3 in P104L mutant caveolin-3 transgenic mice caused muscular atrophy with increase in phosphorylated Smad2 (p-Smad2) as well as p21 (also known as Cdkn1a), a myostatin target gene. | 0.000271442 | 2006 | CAV3;SSUH2 | 3 | 8745725 | C | T |
| rs121912438 | 11555629 | 6647 | SOD1 | umls:C0026846 | BeFree | Transgenic mice overexpressing a mutated form of human SOD1 with a Gly93Ala substitution develop progressive muscle wasting and paralysis as a result of spinal motoneuron loss and die at 5 to 6 months. | 0.122714419 | 2001 | SOD1 | 21 | 31667299 | G | C |
| rs121918551 | 18628786 | 8086 | AAAS | umls:C0026846 | BeFree | Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. | 0.000542884 | 2008 | AAAS | 12 | 53308095 | G | A |
| rs132630304 | 22068590 | 4534 | MTM1 | umls:C0026846 | BeFree | Hemizygous male Mtm1 p.R69C mice develop early muscle atrophy prior to the onset of weakness at 2 months. | 0.000814326 | 2012 | MTM1 | X | 150598660 | C | G,T |
| rs137853305 | 17430991 | 7169 | TPM2 | umls:C0026846 | BeFree | It is suggested that the R133W beta-Tm mutation induces alteration in myosin-actin kinetics causing a reduced number of myosin molecules in the strong actin-binding state, resulting in overall muscle weakness in the absence of muscle wasting. | 0.000271442 | 2007 | TPM2 | 9 | 35685529 | G | A |
| rs267607486 | 19005210 | 1674 | DES | umls:C0026846 | BeFree | Here, we examined a desmin mutation, E245D, that is located within the coil IB (nebulin-binding) region of desmin and that has been reported to cause human cardiomyopathy and skeletal muscle atrophy. | 0.000542884 | 2009 | DES | 2 | 219420346 | G | C |
| rs267607486 | 19005210 | 4703 | NEB | umls:C0026846 | BeFree | Here, we examined a desmin mutation, E245D, that is located within the coil IB (nebulin-binding) region of desmin and that has been reported to cause human cardiomyopathy and skeletal muscle atrophy. | 0.000271442 | 2009 | DES | 2 | 219420346 | G | C |
| rs387906738 | 22847149 | 1778 | DYNC1H1 | umls:C0026846 | BeFree | Whole-exome sequencing of two affected sibs and their mother who showed a unique quadriceps-dominant form of neurogenic muscular atrophy disclosed a heterozygous DYNC1H1 mutation [p.H306R (c.917A>G)]. | 0.000271442 | 2012 | DYNC1H1 | 14 | 101980506 | A | G |
| rs57105105 | 22288874 | 4747 | NEFL | umls:C0026846 | BeFree | The identification of severe gaiting defects in combination with previously observed muscle atrophy, reduced axon caliber and decreased nerve conduction velocity suggests that hNF-L(E397K) mice recapitulate many of clinical signs associated with CMT2E. | 0.000271442 | 2012 | NEFL;MIR6841 | 8 | 24953776 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (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:15) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0026846 | bupivacaine | D002045 | 2180-92-9 | muscular atrophy | MESH:D009133 | marker/mechanism | 3407988 | ||
| C0026846 | chloroquine | D002738 | 1954/5/7 | muscular atrophy | MESH:D009133 | marker/mechanism | 12739036 | ||
| C0026846 | ciprofloxacin | D002939 | 85721-33-1 | muscular atrophy | MESH:D009133 | therapeutic | 19401694 | ||
| C0026846 | colchicine | D003078 | 64-86-8 | muscular atrophy | MESH:D009133 | marker/mechanism | 8234983 | ||
| C0026846 | creatine | D003401 | 57-00-1 | muscular atrophy | MESH:D009133 | therapeutic | 17053101 | ||
| C0026846 | dapsone | D003622 | 80-08-0 | muscular atrophy | MESH:D009133 | marker/mechanism | 6322702 | ||
| C0026846 | diatrizoate | D003973 | 117-96-4 | muscular atrophy | MESH:D009133 | marker/mechanism | 5578696 | ||
| C0026846 | cisplatin | D002945 | 15663-27-1 | muscular atrophy | MESH:D009133 | marker/mechanism | 24823295 | ||
| C0026846 | melphalan | D008558 | 148-82-3 | muscular atrophy | MESH:D009133 | marker/mechanism | 7802575 | ||
| C0026846 | mifepristone | D015735 | 84371-65-3 | muscular atrophy | MESH:D009133 | therapeutic | 12721153 | ||
| C0026846 | nicotine | D009538 | - | muscular atrophy | MESH:D009133 | marker/mechanism | 18694773 | ||
| C0026846 | rifampin | D012293 | 13292-46-1 | muscular atrophy | MESH:D009133 | marker/mechanism | 6789927 | ||
| C0026846 | vincristine | D014750 | - | muscular atrophy | MESH:D009133 | marker/mechanism | 4290103 | ||
| C0026846 | vitamin e | D014810 | 1406-18-4 | muscular atrophy | MESH:D009133 | therapeutic | 572510 | ||
| C0026846 | zidovudine | D015215 | 30516-87-1 | muscular atrophy | MESH:D009133 | marker/mechanism | 1892364 | ||
FDA approved drug and dosage information(Total Drugs:8) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D009133 | cipro | ciprofloxacin | 400MG/40ML (10MG/ML) | INJECTABLE;INJECTION | Discontinued | None | Yes | No |
| MESH:D009133 | cipro | ciprofloxacin | 250MG/5ML | FOR SUSPENSION;ORAL | Prescription | AB | Yes | No |
| MESH:D009133 | retrovir | zidovudine | 100MG | CAPSULE;ORAL | Prescription | AB | Yes | Yes |
| MESH:D009133 | retrovir | zidovudine | 50MG/5ML | SYRUP;ORAL | Prescription | AA | Yes | Yes |
| MESH:D009133 | retrovir | zidovudine | 10MG/ML | INJECTABLE;INJECTION | Prescription | AP | Yes | Yes |
| MESH:D009133 | retrovir | zidovudine | 200MG | TABLET;ORAL | Discontinued | None | No | No |
| MESH:D009133 | zidovudine | zidovudine | 60MG | TABLET;ORAL | Discontinued | None | No | No |
| MESH:D009133 | zidovudine | zidovudine | 60MG | TABLET;ORAL | Discontinued | None | No | No |
FDA labeling changes(Total Drugs:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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:D009133 | 03/25/2004 | cipro | ciprofloxacin | Complicated UTI and pyelonephritis | Indicated for the treatment of complicated urinary tract infections (cUTIs) and pyelonephritis in pediatric patients 1 17 years of age Not drug of first choice due to increased adverse events compared to controls including events related to joints and/or surrounding tissues Information on PK and dose in pediatric patients 1 17 years of age The most frequent adverse events observed within 6 weeks of treatment initiation during the cUTI clinical trial were gastrointestinal 15% compared to 9% and musculoskeletal 9.3% compared to 6% in ciprofloxacin-treated compared to control-treated patients, respectively | Labeling | B | - | - | - | Bayer | 12/18/2003 | FALSE' |
| MESH:D009133 | 03/25/2004 | cipro | ciprofloxacin | Complicated UTI and pyelonephritis | Indicated for the treatment of complicated urinary tract infections (cUTIs) and pyelonephritis in pediatric patients 1 17 years of age Not drug of first choice due to increased adverse events compared to controls including events related to joints and/or surrounding tissues Information on PK and dose in pediatric patients 1 17 years of age The most frequent adverse events observed within 6 weeks of treatment initiation during the cUTI clinical trial were gastrointestinal 15% compared to 9% and musculoskeletal 9.3% compared to 6% in ciprofloxacin-treated compared to control-treated patients, respectively | Labeling | B | - | - | - | Bayer | 12/18/2003 | FALSE' |
| MESH:D009133 | 6/11/2009 | retrovir | zidovudine | Treatment of HIV-1 infection in combination with other antiretroviral agents | Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |
| MESH:D009133 | 6/11/2009 | retrovir | zidovudine | Treatment of HIV-1 infection in combination with other antiretroviral agents | Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |
| MESH:D009133 | 6/11/2009 | retrovir | zidovudine | Treatment of HIV-1 infection in combination with other antiretroviral agents | Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |
| MESH:D009133 | 6/11/2009 | retrovir | zidovudine | Treatment of HIV-1 infection in combination with other antiretroviral agents | Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |
| MESH:D009133 | 09/19/2008 | retrovir syrup, capsules and tablets | zidovudine | Used in combination with 18 other antiretroviral agents for the treatment of HIV-1 infection | Dosing and administration information provided to children 6 weeks to less than 18 years of age Macrocytosis was reported in the majority of pediatric patients receiving Retrovir 180 mg/m2 every 6 hours in open-label studies New dosing regimen | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |
| MESH:D009133 | 6/11/2009 | retrovir | zidovudine | Treatment of HIV-1 infection in combination with other antiretroviral agents | Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg | Labeling | - | P | - | - | GlaxoSmithKline | - | TRUE' |