PedAM
Pediatric Disease Annotations & Medicines
| neural tube defects | ||||
| Disease ID | 276 |
|---|---|
| Disease | neural tube defects |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:19) HP:0002414 | Spina bifida | 7 HP:0000238 | Nonsyndromal hydrocephalus | 7 HP:0100507 | Folate deficiency | 6 HP:0002323 | Anencephaly | 3 HP:0030769 | Exencephaly | 2 HP:0100561 | Spinal cord lesion | 1 HP:0001274 | Absent corpus callosum | 1 HP:0001518 | Small for gestational age | 1 HP:0000078 | Genital abnormalities | 1 HP:0000924 | Abnormality of the skeletal system | 1 HP:0009792 | Teratoma | 1 HP:0002084 | Bifid skull | 1 HP:0005268 | Spontaneous abortion | 1 HP:0006882 | Severe hydrocephalus | 1 HP:0009800 | gestational diabetes | 1 HP:0001945 | Fever | 1 HP:0005202 | Helicobacter pylori infection | 1 HP:0001513 | Obesity | 1 HP:0001363 | Early fusion of cranial sutures | 1 |
| Disease ID | 276 |
|---|---|
| Disease | neural tube defects |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs3733890 | 17035141 | 635 | BHMT | umls:C0027794 | GAD | [BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor.] | 0.124734064 | 2006 | BHMT | 5 | 79126136 | G | A |
| rs762551 | 20641098 | 1544 | CYP1A2 | umls:C0027794 | GAD | [The association identified between maternal CYP1A2*1F fast oxidation status and NTDs should be examined further in the context of the other substrates of CYP1A2. Maternal caffeine and its metabolites may be associated with increased risk for NTD-affected ] | 0.122367032 | 2010 | CYP1A2 | 15 | 74749576 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (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:43) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0027794 | acetaminophen | D000082 | 103-90-2 | neural tube defects | MESH:D009436 | marker/mechanism | 12448053 | ||
| C0027794 | acetylcysteine | D000111 | 616-91-1 | neural tube defects | MESH:D009436 | therapeutic | 19446573 | ||
| C0027794 | amitriptyline | D000639 | 50-48-6 | neural tube defects | MESH:D009436 | marker/mechanism | 6435276 | ||
| C0027794 | arsenic trioxide | C006632 | 1327-53-3 | neural tube defects | MESH:D009436 | marker/mechanism | 10525206 | ||
| C0027794 | azacitidine | D001374 | 320-67-2 | neural tube defects | MESH:D009436 | marker/mechanism | 1690922 | ||
| C0027794 | baclofen | D001418 | 1134-47-0 | neural tube defects | MESH:D009436 | marker/mechanism | 11532198 | ||
| C0027794 | betaine | D001622 | 107-43-7 | neural tube defects | MESH:D009436 | therapeutic | 17413090 | ||
| C0027794 | caffeine | D002110 | 1958/8/2 | neural tube defects | MESH:D009436 | marker/mechanism | 20641098 | ||
| C0027794 | carbamazepine | D002220 | 298-46-4 | neural tube defects | MESH:D009436 | marker/mechanism | 9535510 | ||
| C0027794 | chlorambucil | D002699 | 305-03-3 | neural tube defects | MESH:D009436 | marker/mechanism | 10378468 | ||
| C0027794 | chlordiazepoxide | D002707 | 58-25-3 | neural tube defects | MESH:D009436 | marker/mechanism | 6435276 | ||
| C0027794 | chloroquine | D002738 | 1954/5/7 | neural tube defects | MESH:D009436 | marker/mechanism | 8638253 | ||
| C0027794 | colchicine | D003078 | 64-86-8 | neural tube defects | MESH:D009436 | marker/mechanism | 4012644 | ||
| C0027794 | cyclophosphamide | D003520 | 50-18-0 | neural tube defects | MESH:D009436 | marker/mechanism | 10378468 | ||
| C0027794 | dronabinol | D013759 | - | neural tube defects | MESH:D009436 | marker/mechanism | 19040278 | ||
| C0027794 | folic acid | D005492 | 59-30-3 | neural tube defects | MESH:D009436 | marker/mechanism | 10452927 | ||
| C0027794 | folic acid | D005492 | 59-30-3 | neural tube defects | MESH:D009436 | therapeutic | 10612975 | ||
| C0027794 | leucovorin | D002955 | 1958/5/9 | neural tube defects | MESH:D009436 | therapeutic | 12692401 | ||
| C0027794 | haloperidol | D006220 | 52-86-8 | neural tube defects | MESH:D009436 | marker/mechanism | 2392778 | ||
| C0027794 | hydroxyurea | D006918 | 127-07-1 | neural tube defects | MESH:D009436 | marker/mechanism | 25527867 | ||
| C0027794 | lidocaine | D008012 | 137-58-6 | neural tube defects | MESH:D009436 | marker/mechanism | 7462985 | ||
| C0027794 | methotrexate | D008727 | 1959/5/2 | neural tube defects | MESH:D009436 | marker/mechanism | 1363493 | ||
| C0027794 | morphine | D009020 | 57-27-2 | neural tube defects | MESH:D009436 | marker/mechanism | 16054236 | ||
| C0027794 | nicotine | D009538 | - | neural tube defects | MESH:D009436 | marker/mechanism | 16193507 | ||
| C0027794 | nitric oxide | D009569 | 10102-43-9 | neural tube defects | MESH:D009436 | marker/mechanism | 17676596 | ||
| C0027794 | nitroprusside | D009599 | 15078-28-1 | neural tube defects | MESH:D009436 | marker/mechanism | 17676596 | ||
| C0027794 | phenytoin | D010672 | 57-41-0 | neural tube defects | MESH:D009436 | marker/mechanism | 23458687 | ||
| C0027794 | streptozocin | D013311 | 18883-66-4 | neural tube defects | MESH:D009436 | marker/mechanism | 26073000 | ||
| C0027794 | tretinoin | D014212 | 302-79-4 | neural tube defects | MESH:D009436 | marker/mechanism | 10923335 | ||
| C0027794 | trimethoprim | D014295 | 738-70-5 | neural tube defects | MESH:D009436 | marker/mechanism | 8318756 | ||
| C0027794 | valproic acid | D014635 | 99-66-1 | neural tube defects | MESH:D009436 | marker/mechanism | 10452927 | ||
| C0027794 | vitamin a | D014801 | 11103-57-4 | neural tube defects | MESH:D009436 | marker/mechanism | 16028844 | ||
| C0027794 | cholecalciferol | D002762 | 67-97-0 | neural tube defects | MESH:D009436 | therapeutic | 25673501 | ||
| C0027794 | vitamin e | D014810 | 1406-18-4 | neural tube defects | MESH:D009436 | therapeutic | 11018306 | ||
| C0027794 | carbamazepine | D002220 | 298-46-4 | spinal dysraphism | MESH:D016135 | marker/mechanism | 1932927 | ||
| C0027794 | cladribine | D017338 | 4291-63-8 | spinal dysraphism | MESH:D016135 | marker/mechanism | 12115775 | ||
| C0027794 | folic acid | D005492 | 59-30-3 | spinal dysraphism | MESH:D016135 | marker/mechanism | 20544798 | ||
| C0027794 | folic acid | D005492 | 59-30-3 | spinal dysraphism | MESH:D016135 | therapeutic | 12397633 | ||
| C0027794 | methadone | D008691 | 76-99-3 | spinal dysraphism | MESH:D016135 | marker/mechanism | 4586767 | ||
| C0027794 | phenytoin | D010672 | 57-41-0 | spinal dysraphism | MESH:D016135 | marker/mechanism | 2492459 | ||
| C0027794 | tretinoin | D014212 | 302-79-4 | spinal dysraphism | MESH:D016135 | marker/mechanism | 17962954 | ||
| C0027794 | valproic acid | D014635 | 99-66-1 | spinal dysraphism | MESH:D016135 | marker/mechanism | 12237071 | ||
| C0027794 | vitamin a | D014801 | 11103-57-4 | spinal dysraphism | MESH:D016135 | marker/mechanism | 361928 | ||
FDA approved drug and dosage information(Total Drugs:5) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D009436 | ofirmev | acetaminophen | 1GM/100ML (10MG/ML) | SOLUTION;IV (INFUSION) | Prescription | AP | Yes | Yes |
| MESH:D009436 | ofirmev | acetaminophen | 1GM/100ML (10MG/ML) | SOLUTION;IV (INFUSION) | Prescription | AP | Yes | Yes |
| MESH:D009436 | acetaminophen | acetaminophen | 650MG | SUPPOSITORY;RECTAL | Over-the-counter | None | Yes | Yes |
| MESH:D009436 | acetaminophen | acetaminophen | 650MG | SUPPOSITORY;RECTAL | Over-the-counter | None | Yes | Yes |
| MESH:D009436 | 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:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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:D009436 | 2/11/2010 | ofirmev | acetaminophen | Management of mild-to-moderate pain, for the management of moderate-to-severe pain with adjunctive opioid analgesics, and for the reduction of fever | The safety and effectiveness of Ofirmev for the treatment of acute pain and fever in pediatric patients ages 2 years and older is supported by evidence from adequate and well-controlled studies of Ofirmev in adults. Additional safety and PK data was collected in 355 from premature neonates to adolescents. The effectiveness of Ofirmev for the treatment of acute pain and fever has not been studied in pediatric patients < 2 years of age.The PK exposure of Ofirmev observed in children and adolescents is similar to adults, but higher in neonates and infants. Dosing simulations from PK data in infants and neonates suggest that dose reductions of 33% in infants 1 month to < 2 years of age, and 50% in neonates up to 28 days, with a minimum dosing interval of 6 hours, will produce a PK exposure similar to that observed in children age 2 years and olderMost common adverse reactions in pediatric patients were nausea, vomiting, constipation, pruritus, agitation, and atelectasis.Information on dosing, clinical studies, adverse reactions and PK parametersNew dosage form and route of administration | Labeling | - | P | - | - | Cadence | - | FALSE' |
| MESH:D009436 | 01/27/2017 | ofirmev | acetaminophen | Treatmeny of pain and fever in pediatric patients birth to 2 years | Treatment of pain Efficacy was not demonstrated in pediatric patients younger than 2 years in a double-blind, placebo-controlled study of 198 pediatric patients younger than 2 years. Pediatric patients less than 2 years of age, including neonates from 28 to 40 weeks gestational age at birth, were randomized to receive opioid plus acetaminophen or opioid plus placebo. No difference in analgesic effect of intravenous acetaminophen, measured by assessment of reduced need for additional opioid treatment for pain control, was observed. Treatment of fever The safety and effectiveness for the treatment of fever in pediatric patients, including premature neonates born at 32 weeks or greater gestation is supported by adequate and well-controlled studies of Ofirmev in adults, clinical studies in 244 pediatric patients 2 years and older, and safety and pharmacokinetic data from 239 patients younger than 2 years including neonates 32 weeks or greater gestational age. Information on dosing, clinical trials. Postmarketing study. | Labeling | - | - | B,P | - | Mallinckrodt | 11/7/2016 | FALSE |
| MESH:D009436 | 2/11/2010 | ofirmev | acetaminophen | Management of mild-to-moderate pain, for the management of moderate-to-severe pain with adjunctive opioid analgesics, and for the reduction of fever | The safety and effectiveness of Ofirmev for the treatment of acute pain and fever in pediatric patients ages 2 years and older is supported by evidence from adequate and well-controlled studies of Ofirmev in adults. Additional safety and PK data was collected in 355 from premature neonates to adolescents. The effectiveness of Ofirmev for the treatment of acute pain and fever has not been studied in pediatric patients < 2 years of age.The PK exposure of Ofirmev observed in children and adolescents is similar to adults, but higher in neonates and infants. Dosing simulations from PK data in infants and neonates suggest that dose reductions of 33% in infants 1 month to < 2 years of age, and 50% in neonates up to 28 days, with a minimum dosing interval of 6 hours, will produce a PK exposure similar to that observed in children age 2 years and olderMost common adverse reactions in pediatric patients were nausea, vomiting, constipation, pruritus, agitation, and atelectasis.Information on dosing, clinical studies, adverse reactions and PK parametersNew dosage form and route of administration | Labeling | - | P | - | - | Cadence | - | FALSE' |
| MESH:D009436 | 01/27/2017 | ofirmev | acetaminophen | Treatmeny of pain and fever in pediatric patients birth to 2 years | Treatment of pain Efficacy was not demonstrated in pediatric patients younger than 2 years in a double-blind, placebo-controlled study of 198 pediatric patients younger than 2 years. Pediatric patients less than 2 years of age, including neonates from 28 to 40 weeks gestational age at birth, were randomized to receive opioid plus acetaminophen or opioid plus placebo. No difference in analgesic effect of intravenous acetaminophen, measured by assessment of reduced need for additional opioid treatment for pain control, was observed. Treatment of fever The safety and effectiveness for the treatment of fever in pediatric patients, including premature neonates born at 32 weeks or greater gestation is supported by adequate and well-controlled studies of Ofirmev in adults, clinical studies in 244 pediatric patients 2 years and older, and safety and pharmacokinetic data from 239 patients younger than 2 years including neonates 32 weeks or greater gestational age. Information on dosing, clinical trials. Postmarketing study. | Labeling | - | - | B,P | - | Mallinckrodt | 11/7/2016 | FALSE |
| MESH:D009436 | 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' |