PedAM
Pediatric Disease Annotations & Medicines
| autoimmune lymphoproliferative syndrome | ||||
| Disease ID | 48 |
|---|---|
| Disease | autoimmune lymphoproliferative syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:26) HP:0002730 | Chronic noninfectious lymphadenopathy HP:0002729 | Follicular hyperplasia HP:0003613 | Antiphospholipid antibodies HP:0003261 | Elevated IgA HP:0001973 | Autoimmune thrombocytopenia HP:0001025 | Hives HP:0001890 | Autoimmune hemolytic anemia HP:0003496 | Increased levels of IgM HP:0003262 | Smooth muscle antibody positivity HP:0001904 | Autoimmune neutropenia HP:0002240 | Enlarged liver HP:0003237 | Increased IgG level HP:0002731 | Defective lymphocyte apoptosis HP:0003454 | Platelet antibody HP:0003453 | Antineutrophil antibodies HP:0001744 | Splenomegaly HP:0002853 | Increased proportion of HLA DR+ and CD57+ T cells HP:0002923 | Rheumatoid factor positive HP:0002845 | Increased number of peripheral CD3+ T cells HP:0002633 | Vasculitis HP:0004844 | Coombs-positive hemolytic anemia HP:0001880 | Eosinophilia HP:0002851 | Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors HP:0003493 | Elevated antinuclear antibody HP:0002972 | Decreased reactivity to skin test antigens HP:0001891 | Iron-deficiency anemia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0001970 | Interstitial nephritis | 1 HP:0100242 | Sarcoma | 1 HP:0012410 | Pure red cell aplasia | 1 HP:0000554 | Uveitis | 1 HP:0002665 | Lymphoma | 1 HP:0000123 | Nephritis | 1 |
| Disease ID | 48 |
|---|---|
| Disease | autoimmune lymphoproliferative syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0042164 | uveitis | 1 C0024299 | lymphoma | 1 C0334663 | histiocytic sarcoma | 1 C0031036 | polyarteritis nodosa | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs28929498 | 20935634 | 355 | FAS | umls:C1328840 | UNIPROT | The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations. | 0.462725172 | 2010 | FAS | 10 | 89014221 | A | T |
| rs587776450 | NA | 356 | FASLG | umls:C1328840 | CLINVAR | NA | 0.322171535 | NA | FASLG | 1 | 172659464 | T | - |
| rs80358238 | NA | 356 | FASLG | umls:C1328840 | CLINVAR | NA | 0.322171535 | NA | FASLG | 1 | 172665636 | A | G |
| rs80358238 | 17605793 | 356 | FASLG | umls:C1328840 | BeFree | We found an ALPS patient that harbored a heterozygous A530G mutation in the FasL gene that replaced Arg with Gly at position 156 in the protein's extracellular Fas-binding region. | 0.322171535 | 2007 | FASLG | 1 | 172665636 | A | G |
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:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C1328840 | pyrimethamine | D011739 | 58-14-0 | autoimmune lymphoproliferative syndrome | MESH:D056735 | therapeutic | 17674358 | ||
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.) | |