PedAM
Pediatric Disease Annotations & Medicines
| medulloblastoma | ||||
| Disease ID | 117 |
|---|---|
| Disease | medulloblastoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:34) HP:0003006 | Neuroblastoma HP:0007824 | Total ophthalmoplegia HP:0002073 | Progressive cerebellar ataxia HP:0005227 | Adenomatous colonic polyposis HP:0005561 | Abnormality of bone marrow cell morphology HP:0012658 | Abnormal brain FDG positron emission tomography HP:0001263 | Global developmental delay HP:0002321 | Vertigo HP:0007129 | Cerebellar medulloblastoma HP:0001310 | Dysmetria HP:0001251 | Ataxia HP:0001254 | Lethargy HP:0002315 | Headache HP:0002885 | Medulloblastoma HP:0000238 | Hydrocephalus HP:0100543 | Cognitive impairment HP:0003418 | Back pain HP:0000737 | Irritability HP:0002910 | Elevated hepatic transaminases HP:0000270 | Delayed cranial suture closure HP:0004481 | Progressive macrocephaly HP:0008619 | Bilateral sensorineural hearing impairment HP:0002017 | Nausea and vomiting HP:0002080 | Intention tremor HP:0000651 | Diplopia HP:0007352 | Cerebellar calcifications HP:0100526 | Neoplasm of the lung HP:0009878 | Cerebellar ataxia associated with quadrupedal gait HP:0002516 | Increased intracranial pressure HP:0001291 | Abnormality of the cranial nerves HP:0011695 | Cerebellar hemorrhage HP:0000529 | Progressive visual loss HP:0010302 | Spinal cord tumor HP:0002350 | Cerebellar cyst |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:28) HP:0002664 | Neoplasia | 16 HP:0000238 | Nonsyndromal hydrocephalus | 4 HP:0030065 | Primitive neuroectodermal tumor | 3 HP:0002888 | Ependymoma | 2 HP:0009733 | Glioma | 2 HP:0002898 | Embryonal neoplasia | 2 HP:0011695 | Cerebellar hemorrhage | 1 HP:0007476 | Anhidrotic ectodermal dysplasia | 1 HP:0012531 | Pain | 1 HP:0002665 | Lymphoma | 1 HP:0009592 | Astrocytoma | 1 HP:0007529 | Hidrotic ectodermal dysplasia | 1 HP:0001596 | Hair loss | 1 HP:0003396 | Syringomyelia | 1 HP:0010302 | Tumor of the spinal cord | 1 HP:0100896 | Rectal polyps | 1 HP:0100702 | Arachnoid cyst | 1 HP:0000968 | Ectodermal dysplasia | 1 HP:0000826 | Precocious puberty | 1 HP:0002170 | Intracranial hemorrhage | 1 HP:0002671 | Basalioma | 1 HP:0003774 | End-stage renal failure | 1 HP:0000083 | Renal insufficiency | 1 HP:0030692 | Brain tumor | 1 HP:0012226 | Ovarian teratoma | 1 HP:0200063 | Colorectal polyposis | 1 HP:0002653 | Bone pain | 1 HP:0100843 | Glioblastoma | 1 |
| Disease ID | 117 |
|---|---|
| Disease | medulloblastoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:16) C2364133 | infection C1608408 | malignant transformation C1442871 | craniosynostosis C0877584 | tumor hemorrhage C0854467 | myelosuppression C0679466 | cognitive deficits C0520679 | obstructive sleep apnea syndrome C0153690 | osseous metastasis C0153690 | metastases to bone C0153690 | bone metastases C0153676 | pulmonary metastases C0153676 | lung metastasis C0022364 | neoplasm of jaw C0019080 | hemorrhage C0008626 | chromosomal abnormality C0002793 | anaplasia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1042522 | 22886512 | 7157 | TP53 | umls:C0025149 | BeFree | Prognostic value of the TP53 Arg72Pro single-nucleotide polymorphism and susceptibility to medulloblastoma in a cohort of Brazilian patients. | 0.022301841 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 12684657 | 7157 | TP53 | umls:C0025149 | BeFree | Loss of heterozygosity and p53 polymorphism Pro72Arg in a young patient with medulloblastoma. | 0.022301841 | 2003 | TP53 | 17 | 7676154 | G | T,C |
| rs11540654 | 22886512 | 7157 | TP53 | umls:C0025149 | BeFree | Prognostic value of the TP53 Arg72Pro single-nucleotide polymorphism and susceptibility to medulloblastoma in a cohort of Brazilian patients. | 0.022301841 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
| rs121913400 | NA | 1499 | CTNNB1 | umls:C0025149 | CLINVAR | NA | 0.36706742 | NA | CTNNB1 | 3 | 41224610 | C | A,G,T |
| rs28942088 | NA | 51684 | SUFU | umls:C0025149 | CLINVAR | NA | 0.367891677 | NA | ACTR1A;SUFU | 10 | 102504196 | C | T |
| rs56126236 | NA | 8643 | PTCH2 | umls:C0025149 | CLINVAR | NA | 0.240271442 | NA | PTCH2 | 1 | 44829444 | AG | - |
| rs80358638 | 14559878 | 675 | BRCA2 | umls:C0025149 | BeFree | Two other kindreds each contained a Fanconi anemia-afflicted child who developed medulloblastoma; one child was of Latin American ancestry and a compound heterozygote for BRCA2*I2490T/ 5301insA and the other was African American and a compound heterozygote for BRCA2*Q3066X/E1308X. | 0.240814326 | 2003 | BRCA2 | 13 | 32338277 | G | T |
| rs80358785 | NA | 675 | BRCA2 | umls:C0025149 | CLINVAR | NA | 0.240814326 | NA | BRCA2 | 13 | 32340000 | C | A,G |
| rs80359604 | NA | 675 | BRCA2 | umls:C0025149 | CLINVAR | NA | 0.240814326 | NA | BRCA2 | 13 | 32329469 | GT | - |
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:15) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0025149 | arsenic trioxide | C006632 | 1327-53-3 | medulloblastoma | MESH:D008527 | therapeutic | 21183792 | ||
| C0025149 | bortezomib | D000069286 | - | medulloblastoma | MESH:D008527 | therapeutic | 19213072 | ||
| C0025149 | busulfan | D002066 | 55-98-1 | medulloblastoma | MESH:D008527 | therapeutic | 14595385 | ||
| C0025149 | carmustine | D002330 | 154-93-8 | medulloblastoma | MESH:D008527 | therapeutic | 15133626 | ||
| C0025149 | cyclophosphamide | D003520 | 50-18-0 | medulloblastoma | MESH:D008527 | therapeutic | 19701718 | ||
| C0025149 | cisplatin | D002945 | 15663-27-1 | medulloblastoma | MESH:D008527 | therapeutic | 21880625 | ||
| C0025149 | leucovorin | D002955 | 1958/5/9 | medulloblastoma | MESH:D008527 | therapeutic | 3465876 | ||
| C0025149 | melphalan | D008558 | 148-82-3 | medulloblastoma | MESH:D008527 | therapeutic | 8043096 | ||
| C0025149 | methotrexate | D008727 | 1959/5/2 | medulloblastoma | MESH:D008527 | therapeutic | 11019787 | ||
| C0025149 | sorafenib | C471405 | - | medulloblastoma | MESH:D008527 | therapeutic | 19001435 | ||
| C0025149 | temozolomide | C047246 | 85622-93-1 | medulloblastoma | MESH:D008527 | therapeutic | 16243814 | ||
| C0025149 | thiotepa | D013852 | 52-24-4 | medulloblastoma | MESH:D008527 | therapeutic | 14595385 | ||
| C0025149 | tretinoin | D014212 | 302-79-4 | medulloblastoma | MESH:D008527 | therapeutic | 17453147 | ||
| C0025149 | vincristine | D014750 | - | medulloblastoma | MESH:D008527 | therapeutic | 19701718 | ||
| C0025149 | vorinostat | C111237 | - | medulloblastoma | MESH:D008527 | therapeutic | 16645722 | ||
FDA approved drug and dosage information(Total Drugs:4) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D008527 | busulfex | busulfan | 6MG/ML | INJECTABLE;INJECTION | Prescription | AP | Yes | Yes |
| MESH:D008527 | temodar | temozolomide | 5MG | CAPSULE;ORAL | Prescription | AB | Yes | No |
| MESH:D008527 | temodar | temozolomide | 100MG/VIAL | POWDER;INTRAVENOUS | Prescription | None | Yes | Yes |
| MESH:D008527 | velcade | bortezomib | 3.5MG/VIAL | INJECTABLE;INTRAVENOUS, SUBCUTANEOUS | Prescription | None | Yes | Yes |
FDA labeling changes(Total Drugs:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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:D008527 | 01/13/2003 | busulfex | busulfan | Part of a conditioning regimen administered prior to hematopoietic progenitor cell transplantation for a variety of malignant hematologic or non-malignant diseases | The population pharmacokinetic estimates of busulfan for clearance and volume of distribution were determined in an open-label, uncontrolled PK study in 24 pediatric patients 5 months to 16 years who received busulfan as part of a conditioning regimen administered prior to hematopoietic progenitor cell transplantation for a variety of malignant hematologic or non-malignant diseases Suggested dosing regimen | Labeling | B | - | - | - | Orphan Medical | 12/3/2002 | FALSE' |
| MESH:D008527 | 11/3/2003 | temodar | temozolomide | Recurrent CNS tumors | Temozolomide effectiveness in children has not been demonstrated New data from 2 open-label Phase 2 studies in pediatric patients 3-18 years of age. In one study there were 29 patients with recurrent brain stem glioma and 34 patients with recurrent high grade astrocyoma. In a second study there were 122 patients enrolled with various types of tumors; 113 CNS tumors and 9 non-CNS tumors. The temozolomide toxicity profile in children is similar to adults | Labeling | B | - | - | - | Schering | 11/20/2002 | FALSE' |
| MESH:D008527 | 11/3/2003 | temodar | temozolomide | Recurrent CNS tumors | Temozolomide effectiveness in children has not been demonstrated New data from 2 open-label Phase 2 studies in pediatric patients 3-18 years of age. In one study there were 29 patients with recurrent brain stem glioma and 34 patients with recurrent high grade astrocyoma. In a second study there were 122 patients enrolled with various types of tumors; 113 CNS tumors and 9 non-CNS tumors. The temozolomide toxicity profile in children is similar to adults | Labeling | B | - | - | - | Schering | 11/20/2002 | FALSE' |
| MESH:D008527 | 09/14/2015 | velcade | bortezomib | Relapsed Acute Lymphoblastic Leukemia (ALL) and Lymphoblastic Lymphoma (LL) | Effectiveness in pediatric patients with relapsed pre-B ALL has not been established. The activity and safety of Velcade in combination with intensive reinduction chemotherapy was evaluated in pediatric and young adult patients with lymphoid malignancies. There were 140 patients with ALL or LL enrolled and evaluated for safety. No new safety concerns were observed | Labeling | B | - | - | - | Millennium Pharmaceuticals, Inc. | - | FALSE |