PedAM
Pediatric Disease Annotations & Medicines
| acute erythroid leukemia | ||||
| Disease ID | 965 |
|---|---|
| Disease | acute erythroid leukemia |
| Definition | A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood. |
| Synonym | [m]erythroleukaemia [m]erythroleukaemia nos [m]erythroleukaemias [m]erythroleukemia [m]erythroleukemia nos [m]erythroleukemia nos (morphologic abnormality) [m]erythroleukemias [m]erythroleukemias (morphologic abnormality) acute erythraemia [obs] acute erythraemic myelosis [obs] acute erythremia [obs] acute erythremic myelosis acute erythremic myelosis [obs] acute erythroblastic leukemia acute erythroblastic leukemias acute erythroid leukaemia acute myeloid leukaemia, m6 type acute myeloid leukemia m6b acute myeloid leukemia, m6 type acute myeloid leukemia, m6 type (morphologic abnormality) ael aml m6 di guglielmo dis di guglielmo disease di guglielmo disease [obs] di guglielmo syndrome di guglielmo's disease di guglielmo's syndrome di guglielmos dis di guglielmos disease diguglielmo disease diguglielmo's syndrome digugliemo syndrome disease, di guglielmo disease, di guglielmo's disorder: erythroleukemia, fab m6 (disorder) erythraemic myelosis erythremic myeloses erythremic myelosis erythremic myelosis, nos erythroblastic leukemia erythroblastic leukemia, acute erythroblastic leukemias, acute erythroid leukemia acute erythroleukaemia erythroleukaemia, fab m6 erythroleukemia erythroleukemia (erythroid/myeloid) erythroleukemia without mention of remission erythroleukemia, erythroid/myeloid erythroleukemia, fab m6 erythroleukemia, fab m6 (disorder) erythroleukemias fab m6 leukemia myeloid acute m 06 leukemia, acute erythroblastic leukemia, erythroblastic, acute leukemia, erythroblastic, acute [disease/finding] leukemia, erythroid, malignant leukemia, myeloid, acute, m6 leukemias, acute erythroblastic m6 - acute erythroleukaemia m6 - acute erythroleukemia m6 acute myeloid leukemia m6a m6b myeloid leukemia acute m 06 myeloid leukemia, acute, m6 myeloses, erythremic myelosis erythremic myelosis, erythremic pel pure erythroid leukemia syndrome diguglielmo's |
| Orphanet | |
| UMLS | C0023440 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0002871 | anemia | 1 C0023434 | chronic lymphocytic leukemia | 1 C0598894 | monocytic leukemia | 1 C0002886 | macrocytic anemia | 1 C0023448 | lymphocytic leukemia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 965 |
|---|---|
| Disease | acute erythroid leukemia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 965 |
|---|---|
| Disease | acute erythroid leukemia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:17) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913502 | 25398940 | 3418 | IDH2 | umls:C0023440 | BeFree | To further understand the role of IDH mutations in cancer, we conducted mechanistic studies in the TF-1 IDH2 R140Q erythroleukemia model system and found that IDH2 mutant expression caused both histone and genomic DNA methylation changes that can be reversed when IDH2 mutant activity is inhibited. | 0.000271442 | 2015 | IDH2 | 15 | 90088702 | C | T |
| rs28934873 | 24681953 | 7157 | TP53 | umls:C0023440 | BeFree | In conclusion, persistently active STAT5 can recruit normal p53, like in the case of MPN cells, but also p53 mutants, such as p53 M133K in human erythroleukemia cells, leading to pathologic gene expression that differs from canonical STAT5 or p53 transcriptional programs. | 0.005438769 | 2014 | TP53 | 17 | 7675214 | A | G |
| rs386626619 | 17022694 | 3717 | JAK2 | umls:C0023440 | BeFree | Using this assay and serial dilutions of an erythroleukemia cell line harboring the homozygous JAK2 V617F mutation, we successfully detected the mutation within a background of wild type sequences at a sensitivity of 2.5%. | 0.003810118 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 16598306 | 3717 | JAK2 | umls:C0023440 | BeFree | We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acute myeloid leukemia (AML), especially erythroleukemia (AML-M6) or megakaryoblastic leukemia (AML-M7), where it might mimic erythropoietin or thrombopoietin signaling. | 0.003810118 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 20667821 | 6777 | STAT5B | umls:C0023440 | BeFree | Specifically, five derivative compounds of G6 having structural similarity to the original lead compound were obtained and analyzed for their ability to (i) inhibit Jak2-V617F-mediated cell growth, (ii) inhibit the levels of phospho-Jak2, phospho-STAT3, and phospho-STAT5; (iii) induce apoptosis in human erythroleukemia cells; and (iv) suppress pathologic cell growth of Jak2-V617F-expressing human bone marrow cells ex vivo. | 0.000542884 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 17178722 | 3717 | JAK2 | umls:C0023440 | BeFree | Similar inhibitory effects were found with the JAK2(V617F)-positive human erythroleukemia HEL cell line. | 0.003810118 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 16598306 | 2056 | EPO | umls:C0023440 | BeFree | We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acute myeloid leukemia (AML), especially erythroleukemia (AML-M6) or megakaryoblastic leukemia (AML-M7), where it might mimic erythropoietin or thrombopoietin signaling. | 0.004614512 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 20667821 | 6776 | STAT5A | umls:C0023440 | BeFree | Specifically, five derivative compounds of G6 having structural similarity to the original lead compound were obtained and analyzed for their ability to (i) inhibit Jak2-V617F-mediated cell growth, (ii) inhibit the levels of phospho-Jak2, phospho-STAT3, and phospho-STAT5; (iii) induce apoptosis in human erythroleukemia cells; and (iv) suppress pathologic cell growth of Jak2-V617F-expressing human bone marrow cells ex vivo. | 0.000542884 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 20667821 | 3717 | JAK2 | umls:C0023440 | BeFree | Specifically, five derivative compounds of G6 having structural similarity to the original lead compound were obtained and analyzed for their ability to (i) inhibit Jak2-V617F-mediated cell growth, (ii) inhibit the levels of phospho-Jak2, phospho-STAT3, and phospho-STAT5; (iii) induce apoptosis in human erythroleukemia cells; and (iv) suppress pathologic cell growth of Jak2-V617F-expressing human bone marrow cells ex vivo. | 0.003810118 | 2010 | NA | NA | NA | NA | NA |
| rs62638745 | NA | 2057 | EPOR | umls:C0023440 | CLINVAR | NA | 0.124895885 | NA | EPOR | 19 | 11378051 | T | C |
| rs77375493 | 20667821 | 6776 | STAT5A | umls:C0023440 | BeFree | Specifically, five derivative compounds of G6 having structural similarity to the original lead compound were obtained and analyzed for their ability to (i) inhibit Jak2-V617F-mediated cell growth, (ii) inhibit the levels of phospho-Jak2, phospho-STAT3, and phospho-STAT5; (iii) induce apoptosis in human erythroleukemia cells; and (iv) suppress pathologic cell growth of Jak2-V617F-expressing human bone marrow cells ex vivo. | 0.000542884 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20667821 | 6777 | STAT5B | umls:C0023440 | BeFree | Specifically, five derivative compounds of G6 having structural similarity to the original lead compound were obtained and analyzed for their ability to (i) inhibit Jak2-V617F-mediated cell growth, (ii) inhibit the levels of phospho-Jak2, phospho-STAT3, and phospho-STAT5; (iii) induce apoptosis in human erythroleukemia cells; and (iv) suppress pathologic cell growth of Jak2-V617F-expressing human bone marrow cells ex vivo. | 0.000542884 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16598306 | 3717 | JAK2 | umls:C0023440 | BeFree | We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acute myeloid leukemia (AML), especially erythroleukemia (AML-M6) or megakaryoblastic leukemia (AML-M7), where it might mimic erythropoietin or thrombopoietin signaling. | 0.003810118 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20667821 | 3717 | JAK2 | umls:C0023440 | BeFree | Specifically, five derivative compounds of G6 having structural similarity to the original lead compound were obtained and analyzed for their ability to (i) inhibit Jak2-V617F-mediated cell growth, (ii) inhibit the levels of phospho-Jak2, phospho-STAT3, and phospho-STAT5; (iii) induce apoptosis in human erythroleukemia cells; and (iv) suppress pathologic cell growth of Jak2-V617F-expressing human bone marrow cells ex vivo. | 0.003810118 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17178722 | 3717 | JAK2 | umls:C0023440 | BeFree | Similar inhibitory effects were found with the JAK2(V617F)-positive human erythroleukemia HEL cell line. | 0.003810118 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17022694 | 3717 | JAK2 | umls:C0023440 | BeFree | Using this assay and serial dilutions of an erythroleukemia cell line harboring the homozygous JAK2 V617F mutation, we successfully detected the mutation within a background of wild type sequences at a sensitivity of 2.5%. | 0.003810118 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 16598306 | 2056 | EPO | umls:C0023440 | BeFree | We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acute myeloid leukemia (AML), especially erythroleukemia (AML-M6) or megakaryoblastic leukemia (AML-M7), where it might mimic erythropoietin or thrombopoietin signaling. | 0.004614512 | 2006 | 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:2) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0023440 | troglitazone | C057693 | 97322-87-7 | leukemia, erythroblastic, acute | MESH:D004915 | therapeutic | 16085563 | ||
| C0023440 | vitamin e | D014810 | 1406-18-4 | leukemia, erythroblastic, acute | MESH:D004915 | therapeutic | 9200147 | ||
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.) | |