PedAM
Pediatric Disease Annotations & Medicines
| lepromatous leprosy | ||||
| Disease ID | 832 |
|---|---|
| Disease | lepromatous leprosy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0010783 | Erythema | 5 HP:0012219 | Erythema nodosum | 5 HP:0030731 | Carcinoma | 1 HP:0001067 | Neurofibromas | 1 HP:0002625 | Blood clot in a deep vein | 1 HP:0002669 | Osteosarcoma | 1 HP:0002633 | Vasculitis | 1 HP:0012384 | Nasal inflammation | 1 HP:0002721 | Immunodeficiency | 1 |
| Disease ID | 832 |
|---|---|
| Disease | lepromatous leprosy |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0343467 | erythema nodosum leprosum | 5 C0037284 | skin lesions | 2 C0021051 | immunodeficiency | 1 C0152226 | lagophthalmos | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121917864 | 15726416 | 7097 | TLR2 | umls:C0023348 | BeFree | Genotyping results after direct PCR sequencing showed that the TLR2 Arg677Trp polymorphism associated with lepromatous leprosy in the Korean population is not a true polymorphism of the TLR2 gene and has resulted from the variation present in the 93% homologous duplicated region of TLR2 exon 3 present approximately 23 kb upstream. | 0.00680591 | 2005 | TLR2 | 4 | 153704936 | C | T |
| rs121917864 | 15270740 | 7097 | TLR2 | umls:C0023348 | BeFree | Thus, these results suggest that the TLR2 signal pathway plays a critical role in the alteration of cytokine profiles in PBMC from leprosy patients and the TLR2 mutation Arg677Trp provides a mechanism for the poor cellular immune response associated with lepromatous leprosy. | 0.00680591 | 2004 | TLR2 | 4 | 153704936 | C | T |
| rs121917864 | 15270740 | 7124 | TNF | umls:C0023348 | BeFree | This study investigated the profiles of cytokines, such as interferon (IFN)-gamma, interleukin (IL)-10, IL-12 and tumour necrosis factor (TNF)-alpha in response to Mycobacterium leprae in peripheral blood mononuclear cells (PBMC) with the TLR2 mutation Arg677Trp, a recently reported polymorphism that is associated with lepromatous leprosy. | 0.001357209 | 2004 | TLR2 | 4 | 153704936 | C | 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:6) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0023348 | clofazimine | D002991 | 2030-63-9 | leprosy, lepromatous | MESH:D015440 | therapeutic | 16038251 | ||
| C0023348 | dapsone | D003622 | 80-08-0 | leprosy, lepromatous | MESH:D015440 | therapeutic | 16038251 | ||
| C0023348 | ethionamide | D005000 | 536-33-4 | leprosy, lepromatous | MESH:D015440 | therapeutic | 4261347 | ||
| C0023348 | ofloxacin | D015242 | 82419-36-1 | leprosy, lepromatous | MESH:D015440 | therapeutic | 14996384 | ||
| C0023348 | rifampin | D012293 | 13292-46-1 | leprosy, lepromatous | MESH:D015440 | therapeutic | 14996384 | ||
| C0023348 | thalidomide | D013792 | 50-35-1 | leprosy, lepromatous | MESH:D015440 | therapeutic | 19663116 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |