PedAM
Pediatric Disease Annotations & Medicines
| systemic onset juvenile idiopathic arthritis | ||||
| Disease ID | 1727 |
|---|---|
| Disease | systemic onset juvenile idiopathic arthritis |
| Definition | A category of juvenile idiopathic arthritis defined by the presence of arthritis and high fevers, and accompanied by at least 2 of the following systemic features: lymphadenopathy, organomegaly, rash, or serositis. Macrophage activation syndrome is a well known complication. |
| Synonym | juvenile arthritis with systemic onset juvenile ra, systemic onset sjia systemic juvenile idiopathic arthritis systemic onset juvenile chronic arthritis systemic onset juvenile chronic arthritis (disorder) |
| UMLS | C1384600 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0281963 | red cell aplasia | 1 C0024302 | large cell lymphoma | 1 C0034902 | pure red cell aplasia | 1 C0206180 | anaplastic large cell lymphoma | 1 C0024299 | lymphoma | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1727 |
|---|---|
| Disease | systemic onset juvenile idiopathic arthritis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0030833 | Neck pain | 1 HP:0012410 | Pure red cell aplasia | 1 HP:0002665 | Lymphoma | 1 HP:0001945 | Fever | 1 |
| Disease ID | 1727 |
|---|---|
| Disease | systemic onset juvenile idiopathic arthritis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894176 | 23274377 | 5551 | PRF1 | umls:C1384600 | BeFree | Recurrent macrophage activation syndrome associated with heterozygous perforin W374X gene mutation in a child with systemic juvenile idiopathic arthritis. | 0.000542884 | 2013 | PRF1 | 10 | 70598599 | C | T |
| rs104895179 | 20044784 | 4210 | MEFV | umls:C1384600 | BeFree | In this line, we describe a 9-year-old girl affected with SJIA who carried a heterozygous G196W mutation in MEFV. | 0.000542884 | 2012 | MEFV | 16 | 3254482 | C | 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:0) | |
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| (Waiting for update.) | |
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.) | |