PedAM
Pediatric Disease Annotations & Medicines
| rickets | ||||
| Disease ID | 267 |
|---|---|
| Disease | rickets |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:29) C2364133 | infection C2364118 | weakness C1621895 | adrenal hyperplasia C1510471 | vitamin deficiency C1442871 | craniosynostosis C1000483 | anemia C0476273 | respiratory distress C0426768 | o sign C0376293 | stigmata C0337289 | epiphysiolysis C0282201 | phosphate diabetes C0282201 | hyperphosphaturia C0277792 | pathognomonic sign C0264499 | compression atelectasis C0242350 | sexual impotence C0238621 | aminoaciduria C0151723 | hypomagnesemia C0040188 | tic disorders C0039621 | tetany C0029454 | osteopetrosis C0029421 | osteochondritis dissecans C0026848 | myopathy C0026827 | hypotonia C0020598 | hypocalcemia C0020551 | hyperthyroxinemia C0020502 | hyperparathyroidism C0018802 | congestive heart failure C0006705 | disorders of calcium metabolism C0002871 | anemias |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0268079 | hyperphosphaturia | 2 C0029454 | osteopetrosis | 2 C0020502 | hyperparathyroidism | 1 C0026827 | hypotonia | 1 C0476273 | respiratory distress | 1 C0426768 | o sign | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs61495246 | 25942481 | 120227 | CYP2R1 | umls:C0035579 | BeFree | CYP2R1 sequences were normal in 27 children with sporadic rickets, but missense mutations were identified in affected members of 2 of 12 families, a previously identified L99P, and a novel K242N. | 0.001085767 | 2015 | CYP2R1 | 11 | 14885847 | A | 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: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:3) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0035579 | calcitriol | D002117 | 32222-06-3 | rickets | MESH:D012279 | therapeutic | 16494812 | ||
| C0035579 | ifosfamide | D007069 | 3778-73-2 | rickets | MESH:D012279 | marker/mechanism | 11219485 | ||
| C0035579 | cholecalciferol | D002762 | 67-97-0 | rickets | MESH:D012279 | therapeutic | 21048240 | ||
FDA approved drug and dosage information(Total Drugs:1) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D012279 | calcijex | calcitriol | 0.001MG/ML Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons | INJECTABLE;INJECTION | Discontinued | None | Yes | No |
FDA labeling changes(Total Drugs:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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:D012279 | 11/16/2001 | calcijex | calcitriol | Management of hypocalcemia in patients undergoing chronic renal dialysis | The safety and effectiveness of calcitriol was examined in a double-blind placebo-controlled trial of 35 pediatric patients (13-18 years of age) with end-stage renal disease and on dialysis. The primary efficacy endpoint favored the calcitriol-treated versus the placebo-treated patients Transient hypercalcemia was seen in 1 of 16 calcitriol-treated patients; 6 of 16 (38%) calcitriol-treated patients and 2 of 19 (11%) placebo-treated patients had Ca x P >75 | Labeling | B | - | - | - | Abbott | 02/16/2001 | FALSE' |