PedAM
Pediatric Disease Annotations & Medicines
| thromboembolism | ||||
| Disease ID | 1118 |
|---|---|
| Disease | thromboembolism |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:13) C0020542 | pulmonary hypertension | 9 C0038454 | stroke | 9 C0021308 | infarction | 8 C0042487 | venous thrombosis | 7 C0149871 | deep venous thrombosis | 5 C0948008 | ischemic stroke | 4 C0426768 | o sign | 3 C0007785 | cerebral infarction | 2 C0741885 | occult malignancy | 1 C0751956 | acute stroke | 1 C0027051 | myocardial infarction | 1 C0085096 | peripheral vascular disease | 1 C0040053 | thrombus | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:33) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1061170 | 16229850 | 3075 | CFH | umls:C0040038 | BeFree | We, therefore, evaluated the CFH genetic variant Y402H amongst 685 Caucasian individuals who subsequently developed arterial or venous thrombotic event (incident myocardial infarction (MI), ischaemic stroke, or venous thromboembolism) and amongst 685 age- and smoking-matched Caucasian individuals who remained free of reported vascular disease during follow-up (controls) within the Physicians' Health Study cohort. | 0.000271442 | 2006 | CFH | 1 | 196690107 | C | T |
| rs10935838 | 17707382 | 64805 | P2RY12 | umls:C0040038 | BeFree | Using DNA samples collected at baseline in a prospective cohort of 14,916 initially healthy American men, we examined the possible association of P2RY12 genetic variants, in particular a haplotype H2 (constituted by dbSNP rs10935838, rs2046934, rs5853517, and rs6809699) amongst 708 white males who subsequently developed a thromboembolic event (incident myocardial infarction (MI), ischemic stroke, or deep venous thromboembolism/pulmonary embolism (DVT/PE)) and amongst an equal number of age- and smoking-matched white males who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2008 | P2RY12;MED12L | 3 | 151340459 | A | G |
| rs1800562 | 10233369 | 3077 | HFE | umls:C0040038 | BeFree | Risk of venous thromboembolism associated with the common hereditary haemochromatosis Hfe gene (C282Y) mutation. | 0.002909916 | 1999 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 10520044 | 2153 | F5 | umls:C0040038 | BeFree | Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in familial venous thromboembolic disease? | 0.240464702 | 1999 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 10520044 | 3077 | HFE | umls:C0040038 | BeFree | Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in familial venous thromboembolic disease? | 0.002909916 | 1999 | HFE | 6 | 26092913 | G | A |
| rs1805087 | 10963782 | 2147 | F2 | umls:C0040038 | BeFree | The frequencies of Factor V G1691A (FVL), prothrombin (PT) G20210A, 5'10'methylenetetrahydrofolate reductase (MTHFR) C677T, and methionine synthase (MS) A2756G (four mutations associated with an increased risk of venous thromboembolism [VTE]) were determined in a sample of approximately 1500 New York State residents. | 0.217979513 | 2000 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 11920232 | 4548 | MTR | umls:C0040038 | BeFree | Methionine synthase A2756G and methylenetetrahydrofolate reductase A1298C polymorphisms are not risk factors for idiopathic venous thromboembolism. | 0.000814326 | 2001 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 10963782 | 4548 | MTR | umls:C0040038 | BeFree | The frequencies of Factor V G1691A (FVL), prothrombin (PT) G20210A, 5'10'methylenetetrahydrofolate reductase (MTHFR) C677T, and methionine synthase (MS) A2756G (four mutations associated with an increased risk of venous thromboembolism [VTE]) were determined in a sample of approximately 1500 New York State residents. | 0.000814326 | 2000 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 12091127 | 4548 | MTR | umls:C0040038 | BeFree | A2756G-MS may protect against a thromboembolic event. | 0.000814326 | 2002 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 11920232 | 4524 | MTHFR | umls:C0040038 | BeFree | Methionine synthase A2756G and methylenetetrahydrofolate reductase A1298C polymorphisms are not risk factors for idiopathic venous thromboembolism. | 0.048187303 | 2001 | MTR | 1 | 236885200 | A | G |
| rs2046934 | 17707382 | 64805 | P2RY12 | umls:C0040038 | BeFree | Using DNA samples collected at baseline in a prospective cohort of 14,916 initially healthy American men, we examined the possible association of P2RY12 genetic variants, in particular a haplotype H2 (constituted by dbSNP rs10935838, rs2046934, rs5853517, and rs6809699) amongst 708 white males who subsequently developed a thromboembolic event (incident myocardial infarction (MI), ischemic stroke, or deep venous thromboembolism/pulmonary embolism (DVT/PE)) and amongst an equal number of age- and smoking-matched white males who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2008 | P2RY12;MED12L | 3 | 151339854 | G | A |
| rs386626619 | 25559461 | 3717 | JAK2 | umls:C0040038 | BeFree | The JAK2 V617F mutational status and allele burden may be related with the risk of venous thromboembolic events in patients with Philadelphia-negative myeloproliferative neoplasms. | 0.124895885 | 2014 | NA | NA | NA | NA | NA |
| rs386626619 | 18972067 | 3717 | JAK2 | umls:C0040038 | BeFree | The aim of this study was to clarify whether JAK2(V617F) PV with thromboembolism is characterised by CD239 overexpression. | 0.124895885 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 20551270 | 3717 | JAK2 | umls:C0040038 | BeFree | The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thrombocythemia, which are myeloproliferative neoplasms frequently associated with arterial and venous thromboembolism. | 0.124895885 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 20616539 | 3717 | JAK2 | umls:C0040038 | BeFree | The association between venous thrombosis outside the splanchnic area as well arterial thromboembolism and the JAK2 V617F mutation, an important marker for chronic myeloproliferative neoplasms (MPN), is not completely clear. | 0.124895885 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 23116358 | 3717 | JAK2 | umls:C0040038 | BeFree | JAK2 V617F somatic mutation positives versus negatives had higher erythrocyte (P = 2 × 10(-5) ), thrombocyte (P = 2 × 10(-16) ), and leucocyte (P = 4 × 10(-9) ) counts, and had 2·7-/2·5-fold risk of cancer (prevalent/incident), 44-/28-fold risk of haematological cancer, 221-/97-fold risk of myeloproliferative cancer, 2·2-/1·2-fold risk of ischaemic heart disease, and 3·1-/1·0-fold risk of venous thromboembolism. | 0.124895885 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 19174256 | 3717 | JAK2 | umls:C0040038 | BeFree | Recurrent refractory arterial thromboembolism associated with the Janus kinase 2 V617F mutation. | 0.124895885 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 18600099 | 3717 | JAK2 | umls:C0040038 | BeFree | Furthermore, patients affected by essential thrombocythemia who are carriers of the Janus kinase 2 Val617Phe mutation show a higher incidence of venous thromboembolism both before, and at the time of diagnosis, compared with noncarriers, and recent evidence of splanchnic and cerebral vein thrombosis in carriers of the Janus kinase 2 Val617Phe mutation has been reported. | 0.124895885 | 2008 | NA | NA | NA | NA | NA |
| rs386626619 | 24858412 | 3717 | JAK2 | umls:C0040038 | BeFree | Association between thromboembolic events and the JAK2 V617F mutation in myeloproliferative neoplasms. | 0.124895885 | 2015 | NA | NA | NA | NA | NA |
| rs397507444 | 11920232 | 4524 | MTHFR | umls:C0040038 | BeFree | Methionine synthase A2756G and methylenetetrahydrofolate reductase A1298C polymorphisms are not risk factors for idiopathic venous thromboembolism. | 0.048187303 | 2001 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 11920232 | 4548 | MTR | umls:C0040038 | BeFree | Methionine synthase A2756G and methylenetetrahydrofolate reductase A1298C polymorphisms are not risk factors for idiopathic venous thromboembolism. | 0.000814326 | 2001 | MTHFR | 1 | 11794407 | T | G |
| rs5853517 | 17707382 | 64805 | P2RY12 | umls:C0040038 | BeFree | Using DNA samples collected at baseline in a prospective cohort of 14,916 initially healthy American men, we examined the possible association of P2RY12 genetic variants, in particular a haplotype H2 (constituted by dbSNP rs10935838, rs2046934, rs5853517, and rs6809699) amongst 708 white males who subsequently developed a thromboembolic event (incident myocardial infarction (MI), ischemic stroke, or deep venous thromboembolism/pulmonary embolism (DVT/PE)) and amongst an equal number of age- and smoking-matched white males who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2008 | P2RY12;MED12L | 3 | 151339797 | T | - |
| rs5985 | 24509329 | 2162 | F13A1 | umls:C0040038 | BeFree | Factor XIIIA-V34L and factor XIIIB-H95R in venous thromboembolism in central Iran: protective and neutral. | 0.000271442 | 2015 | F13A1 | 6 | 6318562 | C | T,A |
| rs60682848 | 18035086 | 4000 | LMNA | umls:C0040038 | BeFree | Our study confirmed that the p.R225X mutation leads to cardiac conduction disease with late or no development of DCM, underscoring the importance of this mutation in putative familial lone conduction disease. Nearly one third of LMNA mutation carriers had experienced a thromboembolic event. | 0.000271442 | 2007 | LMNA | 1 | 156134838 | C | T |
| rs6809699 | 17707382 | 64805 | P2RY12 | umls:C0040038 | BeFree | Using DNA samples collected at baseline in a prospective cohort of 14,916 initially healthy American men, we examined the possible association of P2RY12 genetic variants, in particular a haplotype H2 (constituted by dbSNP rs10935838, rs2046934, rs5853517, and rs6809699) amongst 708 white males who subsequently developed a thromboembolic event (incident myocardial infarction (MI), ischemic stroke, or deep venous thromboembolism/pulmonary embolism (DVT/PE)) and amongst an equal number of age- and smoking-matched white males who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2008 | P2RY12;MED12L | 3 | 151338810 | A | C |
| rs77375493 | 20616539 | 3717 | JAK2 | umls:C0040038 | BeFree | The association between venous thrombosis outside the splanchnic area as well arterial thromboembolism and the JAK2 V617F mutation, an important marker for chronic myeloproliferative neoplasms (MPN), is not completely clear. | 0.124895885 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20551270 | 3717 | JAK2 | umls:C0040038 | BeFree | The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thrombocythemia, which are myeloproliferative neoplasms frequently associated with arterial and venous thromboembolism. | 0.124895885 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 24858412 | 3717 | JAK2 | umls:C0040038 | BeFree | Association between thromboembolic events and the JAK2 V617F mutation in myeloproliferative neoplasms. | 0.124895885 | 2015 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19174256 | 3717 | JAK2 | umls:C0040038 | BeFree | Recurrent refractory arterial thromboembolism associated with the Janus kinase 2 V617F mutation. | 0.124895885 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 25559461 | 3717 | JAK2 | umls:C0040038 | BeFree | The JAK2 V617F mutational status and allele burden may be related with the risk of venous thromboembolic events in patients with Philadelphia-negative myeloproliferative neoplasms. | 0.124895885 | 2014 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18600099 | 3717 | JAK2 | umls:C0040038 | BeFree | Furthermore, patients affected by essential thrombocythemia who are carriers of the Janus kinase 2 Val617Phe mutation show a higher incidence of venous thromboembolism both before, and at the time of diagnosis, compared with noncarriers, and recent evidence of splanchnic and cerebral vein thrombosis in carriers of the Janus kinase 2 Val617Phe mutation has been reported. | 0.124895885 | 2008 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23116358 | 3717 | JAK2 | umls:C0040038 | BeFree | JAK2 V617F somatic mutation positives versus negatives had higher erythrocyte (P = 2 × 10(-5) ), thrombocyte (P = 2 × 10(-16) ), and leucocyte (P = 4 × 10(-9) ) counts, and had 2·7-/2·5-fold risk of cancer (prevalent/incident), 44-/28-fold risk of haematological cancer, 221-/97-fold risk of myeloproliferative cancer, 2·2-/1·2-fold risk of ischaemic heart disease, and 3·1-/1·0-fold risk of venous thromboembolism. | 0.124895885 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18972067 | 3717 | JAK2 | umls:C0040038 | BeFree | The aim of this study was to clarify whether JAK2(V617F) PV with thromboembolism is characterised by CD239 overexpression. | 0.124895885 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
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:29) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0040038 | aminocaproic acid | D015119 | 60-32-2 | thromboembolism | MESH:D013923 | marker/mechanism | 6740850 | ||
| C0040038 | anagrelide | C021139 | - | thromboembolism | MESH:D013923 | therapeutic | 16896569 | ||
| C0040038 | busulfan | D002066 | 55-98-1 | thromboembolism | MESH:D013923 | therapeutic | 19636672 | ||
| C0040038 | carmustine | D002330 | 154-93-8 | thromboembolism | MESH:D013923 | marker/mechanism | 7960606 | ||
| C0040038 | chlorotrianisene | D002741 | 569-57-3 | thromboembolism | MESH:D013923 | marker/mechanism | 1182631 | ||
| C0040038 | chlorpromazine | D002746 | 50-53-3 | thromboembolism | MESH:D013923 | marker/mechanism | 12520151 | ||
| C0040038 | cyclosporine | D016572 | 59865-13-3 | thromboembolism | MESH:D013923 | marker/mechanism | 2859508 | ||
| C0040038 | desogestrel | D017135 | 54024-22-5 | thromboembolism | MESH:D013923 | marker/mechanism | 8808016 | ||
| C0040038 | diatrizoate | D003973 | 117-96-4 | thromboembolism | MESH:D013923 | marker/mechanism | 11108904 | ||
| C0040038 | cisplatin | D002945 | 15663-27-1 | thromboembolism | MESH:D013923 | marker/mechanism | 11108333 | ||
| C0040038 | diclofenac | D004008 | 15307-86-5 | thromboembolism | MESH:D013923 | marker/mechanism | 15234645 | ||
| C0040038 | diethylstilbestrol | D004054 | 56-53-1 | thromboembolism | MESH:D013923 | marker/mechanism | 1182631 | ||
| C0040038 | fluorouracil | D005472 | 51-21-8 | thromboembolism | MESH:D013923 | marker/mechanism | 11108333 | ||
| C0040038 | flutamide | D005485 | 13311-84-7 | thromboembolism | MESH:D013923 | marker/mechanism | 8708714 | ||
| C0040038 | hydroxyurea | D006918 | 127-07-1 | thromboembolism | MESH:D013923 | therapeutic | 19636672 | ||
| C0040038 | lenalidomide | C467567 | - | thromboembolism | MESH:D013923 | marker/mechanism | 17723971 | ||
| C0040038 | meloxicam | C065757 | 71125-38-7 | thromboembolism | MESH:D013923 | marker/mechanism | 15234645 | ||
| C0040038 | levonorgestrel | D016912 | 797-63-7 | thromboembolism | MESH:D013923 | marker/mechanism | 6933346 | ||
| C0040038 | paclitaxel | D017239 | - | thromboembolism | MESH:D013923 | marker/mechanism | 15493358 | ||
| C0040038 | phenindione | D010630 | 1983/12/5 | thromboembolism | MESH:D013923 | therapeutic | 5402605 | ||
| C0040038 | pipobroman | D010885 | 54-91-1 | thromboembolism | MESH:D013923 | therapeutic | 19636672 | ||
| C0040038 | piroxicam | D010894 | 36322-90-4 | thromboembolism | MESH:D013923 | marker/mechanism | 15234645 | ||
| C0040038 | epoprostenol | D011464 | 35121-78-9 | thromboembolism | MESH:D013923 | marker/mechanism | 8682124 | ||
| C0040038 | thalidomide | D013792 | 50-35-1 | thromboembolism | MESH:D013923 | marker/mechanism | 12043695 | ||
| C0040038 | ticlopidine | D013988 | 55142-85-3 | thromboembolism | MESH:D013923 | therapeutic | 1884675 | ||
| C0040038 | tranexamic acid | D014148 | 1197-18-8 | thromboembolism | MESH:D013923 | marker/mechanism | 7206930 | ||
| C0040038 | tretinoin | D014212 | 302-79-4 | thromboembolism | MESH:D013923 | marker/mechanism | 1637880 | ||
| C0040038 | vincristine | D014750 | - | thromboembolism | MESH:D013923 | marker/mechanism | 7960606 | ||
| C0040038 | vinorelbine | C030852 | 71486-22-1 | thromboembolism | MESH:D013923 | marker/mechanism | 12006519 | ||
FDA approved drug and dosage information(Total Drugs:6) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D013923 | busulfex | busulfan | 6MG/ML | INJECTABLE;INJECTION | Prescription | AP | Yes | Yes |
| MESH:D013923 | mobic | meloxicam | 7.5MG | TABLET;ORAL | Prescription | AB | Yes | No |
| MESH:D013923 | mobic | meloxicam | 7.5MG/5ML | SUSPENSION;ORAL | Prescription | None | Yes | Yes |
| MESH:D013923 | mirena | levonorgestrel | 52MG | INTRAUTERINE DEVICE;INTRAUTERINE | Prescription | None | Yes | Yes |
| MESH:D013923 | levonorgestrel | levonorgestrel | 75MG/IMPLANT | IMPLANT;IMPLANTATION | Discontinued | None | No | No |
| MESH:D013923 | lysteda | tranexamic acid | 650MG | TABLET;ORAL | Prescription | AB | Yes | Yes |
FDA labeling changes(Total Drugs:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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:D013923 | 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:D013923 | 11/8/2005 | mobic | meloxicam | Relief of signs and symptoms of pauciarticular or polyarticular course Juvenile Rheumatoid Arthritis | Safety and efficacy established in patients 2 years of age and older Clinical studies evaluated doses ranging from 0.125 mg/kg/day to 0.375 mg/kg/day. There was no additional benefit demonstrated by doses above 0.125 mg/kg/day in the clinical trials. The lowest effective dose should be used Adverse events in children were similar to those in adults including skin reactions and gastrointestinal bleed risk Information on dose, PK parameters, AE profile and clinical studies | Labeling | - | - | B, P | - | Boehringer Ingelheim | 04/15/2005 | FALSE' |
| MESH:D013923 | 11/8/2005 | mobic | meloxicam | Relief of signs and symptoms of pauciarticular or polyarticular course Juvenile Rheumatoid Arthritis | Safety and efficacy established in patients 2 years of age and older Clinical studies evaluated doses ranging from 0.125 mg/kg/day to 0.375 mg/kg/day. There was no additional benefit demonstrated by doses above 0.125 mg/kg/day in the clinical trials. The lowest effective dose should be used Adverse events in children were similar to those in adults including skin reactions and gastrointestinal bleed risk Information on dose, PK parameters, AE profile and clinical studies | Labeling | - | - | B, P | - | Boehringer Ingelheim | 04/15/2005 | FALSE' |
| MESH:D013923 | 1/10/2009 | mirena | levonorgestrel-releasing intrauterine system | Treatment of heavy menstrual bleeding for women using intrauterine contraception | New indication for the treatment of heavy menstrual bleeding for women who choose to use intrauterine contraception Use before menarche is not indicated | Labeling | - | P | - | - | Berlex | - | TRUE' |
| MESH:D013923 | 10/7/2009 | plan b one step | levonorgestrel | Emergency contraception - OTC in women 17 years and older; RX for women younger than age 17 years | New single dose 1.5 mg tablet New dosage regimen | Labeling | - | P | - | - | Duramed | - | FALSE' |
| MESH:D013923 | 08/21/2013 | lysteda | tranexamic acid | Treatment of cyclic heavy menstrual bleeding | Indicated for women of reproductive age. It is not intended for use in premenarcheal girls Information on PK studyPostmarketing study | - | P | - | - | Ferring | - | FALSE' | - |