PedAM
Pediatric Disease Annotations & Medicines
| renal osteodystrophy | ||||
| Disease ID | 272 |
|---|---|
| Disease | renal osteodystrophy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0000939 | Osteoporosis | 4 HP:0012622 | Chronic kidney disease | 2 HP:0002797 | Increased bone resorption | 1 HP:0001903 | Anemia | 1 HP:0000867 | Secondary hyperparathyroidism | 1 HP:0000938 | Decreased bone mineral density | 1 HP:0000989 | pruritis | 1 HP:0002659 | Increased tendency to fractures | 1 HP:0000112 | Nephropathy | 1 HP:0000843 | Hyperparathyroidism | 1 HP:0002653 | Bone pain | 1 HP:0012531 | Pain | 1 |
| Disease ID | 272 |
|---|---|
| Disease | renal osteodystrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:24) C2598155 | pain C1963077 | bone pain C0238792 | bone lesion C0158288 | lumbar spinal stenosis C0151311 | cranial nerve palsies C0149887 | slipped capital femoral epiphysis C0037944 | spinal stenosis C0037928 | myelopathy C0037926 | spinal cord compression C0030312 | pancytopenia C0029464 | osteosclerosis C0029442 | osteomalacia C0029166 | oral manifestations C0026857 | musculoskeletal disorders C0020503 | secondary hyperparathyroidism C0020502 | hyperparathyroidism C0020437 | hypercalcemia C0016196 | flail chest C0016063 | osteitis fibrosa C0014571 | slipped epiphysis C0014571 | slipped epiphyses C0014544 | epileptic seizure C0005944 | metabolic bone disease C0002726 | amyloidosis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0030193 | pain | 1 C0151825 | bone pain | 1 C0016063 | osteitis fibrosa | 1 C0149887 | slipped capital femoral epiphysis | 1 C0020503 | secondary hyperparathyroidism | 1 C0020502 | hyperparathyroidism | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:1) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 12 | 123101673 | rs6489157 | NM_014708,KNTC1 | ENST00000436959,ENSG00000184445 | ENST00000450485,ENSG00000184445 | ENST00000333479,ENSG00000184445 | NA | NA | NA | NA | LM14,8.7965 | LM22,48.3943 | LM52,2.5186 | LM69,2.0544 | LM84,15.5482 | NA | NA | NA | NA | NA | NA | 0.000 | -0.245 | -1.23 | GE0 | C | NA | NA | NA | NA | NA | NA | NA | NA | Intergenic | DOWNSTREAM | 269 |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:2) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0035086 | calcitriol | D002117 | 32222-06-3 | renal osteodystrophy | MESH:D012080 | marker/mechanism | 6897822 | ||
| C0035086 | calcitriol | D002117 | 32222-06-3 | renal osteodystrophy | MESH:D012080 | therapeutic | 11305809 | ||
FDA approved drug and dosage information(Total Drugs:2) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D012080 | 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 |
| MESH:D012080 | 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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:D012080 | 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' |
| MESH:D012080 | 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' |