gynecomastia |
Disease ID | 712 |
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Disease | gynecomastia |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:24) HP:0002664 | Neoplasia | 3 HP:0012125 | Prostate cancer | 3 HP:0001513 | Obesity | 3 HP:0000802 | Erectile dysfunction | 2 HP:0001956 | Centripetal obesity | 2 HP:0012126 | Gastric cancer | 1 HP:0001402 | Hepatocellular carcinoma | 1 HP:0002315 | Headaches | 1 HP:0000823 | Pubertal delay | 1 HP:0000486 | Squint eyes | 1 HP:0001067 | Neurofibromas | 1 HP:0100723 | Gastrointestinal stroma tumor | 1 HP:0000054 | Short penis | 1 HP:0100829 | Galactorrhoea | 1 HP:0010788 | Testicular neoplasm | 1 HP:0000855 | Insulin resistance | 1 HP:0002633 | Vasculitis | 1 HP:0004322 | Stature below 3rd percentile | 1 HP:0003002 | Breast carcinoma | 1 HP:0030731 | Carcinoma | 1 HP:0030075 | Ductal carcinoma in situ | 1 HP:0001061 | Acne | 1 HP:0000789 | Infertility | 1 HP:0000047 | Hypospadias | 1 |
Disease ID | 712 |
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Disease | gynecomastia |
Manually Symptom | (Waiting for update.) |
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:11) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs1137101 | 24625355 | 1588 | CYP19A1 | umls:C0018418 | BeFree | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (rs2234693), ER beta (rs4986938), leptin (rs7799039), and leptin receptor (rs1137101) gene polymorphisms and gynecomastia. | 0.008358616 | 2014 | LEPR | 1 | 65592830 | A | G |
rs1137101 | 24625355 | 2099 | ESR1 | umls:C0018418 | BeFree | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (rs2234693), ER beta (rs4986938), leptin (rs7799039), and leptin receptor (rs1137101) gene polymorphisms and gynecomastia. | 0.000542884 | 2014 | LEPR | 1 | 65592830 | A | G |
rs2234693 | 24625355 | 2099 | ESR1 | umls:C0018418 | BeFree | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (rs2234693), ER beta (rs4986938), leptin (rs7799039), and leptin receptor (rs1137101) gene polymorphisms and gynecomastia. | 0.000542884 | 2014 | ESR1 | 6 | 151842200 | T | C |
rs2234693 | 24625355 | 1588 | CYP19A1 | umls:C0018418 | BeFree | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (rs2234693), ER beta (rs4986938), leptin (rs7799039), and leptin receptor (rs1137101) gene polymorphisms and gynecomastia. | 0.008358616 | 2014 | ESR1 | 6 | 151842200 | T | C |
rs2414096 | 24625355 | 1588 | CYP19A1 | umls:C0018418 | BeFree | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (rs2234693), ER beta (rs4986938), leptin (rs7799039), and leptin receptor (rs1137101) gene polymorphisms and gynecomastia. | 0.008358616 | 2014 | CYP19A1;PIRC66 | 15 | 51237582 | G | A |
rs2414096 | 24625355 | 2099 | ESR1 | umls:C0018418 | BeFree | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (rs2234693), ER beta (rs4986938), leptin (rs7799039), and leptin receptor (rs1137101) gene polymorphisms and gynecomastia. | 0.000542884 | 2014 | CYP19A1;PIRC66 | 15 | 51237582 | G | A |
rs372903533 | 25401426 | 367 | AR | umls:C0018418 | BeFree | Preserved fertility in a patient with gynecomastia associated with the p.Pro695Ser mutation in the androgen receptor. | 0.004267125 | 2014 | AR | X | 67711599 | C | T |
rs4986938 | 24625355 | 2099 | ESR1 | umls:C0018418 | BeFree | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (rs2234693), ER beta (rs4986938), leptin (rs7799039), and leptin receptor (rs1137101) gene polymorphisms and gynecomastia. | 0.000542884 | 2014 | ESR2 | 14 | 64233098 | C | T |
rs4986938 | 24625355 | 1588 | CYP19A1 | umls:C0018418 | BeFree | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (rs2234693), ER beta (rs4986938), leptin (rs7799039), and leptin receptor (rs1137101) gene polymorphisms and gynecomastia. | 0.008358616 | 2014 | ESR2 | 14 | 64233098 | C | T |
rs7799039 | 24625355 | 2099 | ESR1 | umls:C0018418 | BeFree | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (rs2234693), ER beta (rs4986938), leptin (rs7799039), and leptin receptor (rs1137101) gene polymorphisms and gynecomastia. | 0.000542884 | 2014 | LOC105375494 | 7 | 128238730 | G | A |
rs7799039 | 24625355 | 1588 | CYP19A1 | umls:C0018418 | BeFree | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (rs2234693), ER beta (rs4986938), leptin (rs7799039), and leptin receptor (rs1137101) gene polymorphisms and gynecomastia. | 0.008358616 | 2014 | LOC105375494 | 7 | 128238730 | G | A |
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:8) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0018418 | chlorotrianisene | D002741 | 569-57-3 | gynecomastia | MESH:D006177 | marker/mechanism | 1182631 | ||
C0018418 | cimetidine | D002927 | 51481-61-9 | gynecomastia | MESH:D006177 | marker/mechanism | 3654561 | ||
C0018418 | clonidine | D003000 | 4205-90-7 | gynecomastia | MESH:D006177 | marker/mechanism | 16401171 | ||
C0018418 | diethylstilbestrol | D004054 | 56-53-1 | gynecomastia | MESH:D006177 | marker/mechanism | 11502463 | ||
C0018418 | flutamide | D005485 | 13311-84-7 | gynecomastia | MESH:D006177 | therapeutic | 15715105 | ||
C0018418 | mirtazapine | C035133 | - | gynecomastia | MESH:D006177 | marker/mechanism | 15105766 | ||
C0018418 | omeprazole | D009853 | 73590-58-6 | gynecomastia | MESH:D006177 | marker/mechanism | 1392958 | ||
C0018418 | spironolactone | D013148 | 1952/1/7 | gynecomastia | MESH:D006177 | marker/mechanism | 17309946 |
FDA approved drug and dosage information(Total Drugs:5) | ||||||||
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DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
MESH:D006177 | prilosec | omeprazole | 20MG Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons | CAPSULE, DELAYED REL PELLETS;ORAL | Discontinued | None | Yes | No |
MESH:D006177 | prilosec | omeprazole | 20MG Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons | CAPSULE, DELAYED REL PELLETS;ORAL | Discontinued | None | Yes | No |
MESH:D006177 | omeprazole | omeprazole | 20MG | TABLET, DELAYED RELEASE;ORAL | Over-the-counter | None | Yes | Yes |
MESH:D006177 | omeprazole | omeprazole | 20MG | TABLET, DELAYED RELEASE;ORAL | Over-the-counter | None | Yes | Yes |
MESH:D006177 | remeron | mirtazapine | 15MG | TABLET;ORAL | Prescription | AB | Yes | Yes |
FDA labeling changes(Total Drugs:5) | |||||||||||||
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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:D006177 | 12/7/2002 | prilosec | omeprazole | Gastroesophageal reflux and erosive esophagitis | Safety and effectiveness established in pediatric patients 2-16 years of age Information on dose, PK parameters, exposure/response and AE profile | Labeling | B | - | - | - | AstraZeneca | - | FALSE' |
MESH:D006177 | 03/20/2008 | prilosec | omeprazole | Maintenance healing of erosive esophagitis | Efficacy was extrapolated from adults and older children to 1 to 2 year olds and supported with an open-label trial Unique adverse reactions in pediatric patients included increased respiratory system adverse events and fever. Safety and effectiveness in children less than 1 year of age have not been established Dosing and administration information provided for patients 1 year and older weighing at least 5 kg. New dosage form | Labeling | - | - | B, P | - | AstraZeneca | 1/5/2001 | FALSE' |
MESH:D006177 | 12/7/2002 | prilosec | omeprazole | Gastroesophageal reflux and erosive esophagitis | Safety and effectiveness established in pediatric patients 2-16 years of age Information on dose, PK parameters, exposure/response and AE profile | Labeling | B | - | - | - | AstraZeneca | - | FALSE' |
MESH:D006177 | 03/20/2008 | prilosec | omeprazole | Maintenance healing of erosive esophagitis | Efficacy was extrapolated from adults and older children to 1 to 2 year olds and supported with an open-label trial Unique adverse reactions in pediatric patients included increased respiratory system adverse events and fever. Safety and effectiveness in children less than 1 year of age have not been established Dosing and administration information provided for patients 1 year and older weighing at least 5 kg. New dosage form | Labeling | - | - | B, P | - | AstraZeneca | 1/5/2001 | FALSE' |
MESH:D006177 | 12/1/2005 | remeron | mirtazapine | Major Depressive Disorder | Safety and effectiveness in the pediatric population have not been established FDA required boxed warning for all antidepressants: Suicidality in Children and Adolescents - Antidepressants increased the risk of suicidal thinking and behavior (suicidality) in short-term studies in children and adolescents with Major Depressive Disorder (MDD) and other psychiatric disorders. Anyone considering the use of Remeron or any other antidepressant in a child or adolescent must balance this risk with the clinical need. Patients who are started on therapy should be observed closely for clinical worsening, suicidality, or unusual changes in behavior. Families and caregivers should be advised of the need for close observation and communication with the prescriber. Remeron is not approved for use in pediatric patients. (See Warnings and Precautions: Pediatric Use) Pooled analyses of short-term (4 to 16 weeks) placebo-controlled trials of 9 antidepressant drugs (SSRIs and others) in children and adolescents with major depressive disorder (MDD), obsessive compulsive disorder (OCD), or other psychiatric disorders (a total of 24 trials involving over 4400 patients) have revealed a greater risk of adverse events representing suicidal thinking or behavior (suicidality) during the first few months of treatment in those receiving antidepressants. The average risk of such events in patients receiving antidepressants was 4%, twice the placebo risk of 2%. No suicides occurred in these trials Two placebo-controlled trials in 258 pediatric patients with MDD have been conducted with Remeron and the data were not sufficient to support a claim for use in pediatric patients | Labeling | B | - | - | - | Organon | - | FALSE' |