PedAM
Pediatric Disease Annotations & Medicines
| microcephaly | ||||
| Disease ID | 181 |
|---|---|
| Disease | microcephaly |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C1839611 | n syndrome | 5 C0014544 | epilepsy | 4 C0021051 | immunodeficiency | 3 C0013336 | dwarfism | 1 C0040188 | tic disorder | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:3) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 12 | 66358347 | rs1042725 | C | T | rs1042725 | 22504419 | 3.00E-10 | NA | 0.07 | [0.045-0.085] unit decrease | 10,768 European ancestry infants | European(10768) | ALL(10768) | EUR(10768) | ALL(10768) | Head circumference (infant) | HPOID:0000234 | Abnormality of the head | DOID:1289 | DOID:1561 | DOID:12995 | neurodegenerative disease | cognitive disorder | conduct disorder | D008831 | Microcephaly | EFOID:0004577 | infant head circumference | Mental retardation |
| 12 | 123822711 | rs7980687 | G | A | rs7980687 | 22504419 | 8.00E-09 | NA | 0.07 | [0.049-0.099] SD increase | 10,768 European ancestry infants | European(10768) | ALL(10768) | EUR(10768) | ALL(10768) | Head circumference (infant) | HPOID:0000234 | Abnormality of the head | DOID:1289 | DOID:1561 | DOID:12995 | neurodegenerative disease | cognitive disorder | conduct disorder | D008831 | Microcephaly | EFOID:0004577 | infant head circumference | Mental retardation |
| 17 | 43795433 | rs11655470 | C | T | rs11655470 | 22504419 | 4.00E-06 | NA | 0.05 | [0.028-0.068] SD increase | 10,768 European ancestry infants | European(10768) | ALL(10768) | EUR(10768) | ALL(10768) | Head circumference (infant) | HPOID:0000234 | Abnormality of the head | DOID:1289 | DOID:1561 | DOID:12995 | neurodegenerative disease | cognitive disorder | conduct disorder | D008831 | Microcephaly | EFOID:0004577 | infant head circumference | Mental retardation |
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:10) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0025958 | acitretin | D017255 | 55079-83-9 | microcephaly | MESH:D008831 | marker/mechanism | 15470719 | ||
| C0025958 | busulfan | D002066 | 55-98-1 | microcephaly | MESH:D008831 | marker/mechanism | 17290349 | ||
| C0025958 | carbamazepine | D002220 | 298-46-4 | microcephaly | MESH:D008831 | marker/mechanism | 10540608 | ||
| C0025958 | fluorouracil | D005472 | 51-21-8 | microcephaly | MESH:D008831 | marker/mechanism | 16519069 | ||
| C0025958 | phenytoin | D010672 | 57-41-0 | microcephaly | MESH:D008831 | marker/mechanism | 10798072 | ||
| C0025958 | sotalol | D013015 | 3930-20-9 | microcephaly | MESH:D008831 | marker/mechanism | 2417188 | ||
| C0025958 | tretinoin | D014212 | 302-79-4 | microcephaly | MESH:D008831 | marker/mechanism | 9535508 | ||
| C0025958 | trimethadione | D014293 | 127-48-0 | microcephaly | MESH:D008831 | marker/mechanism | 50427 | ||
| C0025958 | valproic acid | D014635 | 99-66-1 | microcephaly | MESH:D008831 | marker/mechanism | 15123016 | ||
| C0025958 | vitamin a | D014801 | 11103-57-4 | microcephaly | MESH:D008831 | marker/mechanism | 665178 | ||
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:D008831 | busulfex | busulfan | 6MG/ML | INJECTABLE;INJECTION | Prescription | AP | Yes | Yes |
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:D008831 | 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' |