eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| chronic eosinophilic leukemia | ||||
| Disease ID | 1510 |
|---|---|
| Disease | chronic eosinophilic leukemia |
| Definition | A disease in which too many eosinophils (a type of white blood cell) are found in the bone marrow, blood, and other tissues. Chronic eosinophilic leukemia may stay the same for many years, or it may progress quickly to acute leukemia. |
| Synonym | cel/hypereosinophilic syndrome chronic eosinophilic leukaemia chronic eosinophilic leukemia (disorder) chronic eosinophilic leukemia (morphologic abnormality) chronic eosinophilic leukemia, nos chronic eosinophilic leukemia, not otherwise specified chronic eosinophilic leukemia/hypereosinophilic syndrome |
| Orphanet | |
| UMLS | C0346421 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0206141 | hypereosinophilic syndrome | 1 C0019618 | histiocytosis | 1 C0009319 | colitis | 1 C0009324 | ulcerative colitis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1510 |
|---|---|
| Disease | chronic eosinophilic leukemia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0002583 | Colitis | 1 HP:0100279 | Ulcerative colitis | 1 HP:0001880 | Eosinophilia | 1 HP:0100727 | Histiocytosis | 1 |
| Disease ID | 1510 |
|---|---|
| Disease | chronic eosinophilic leukemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:14) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908587 | 25431951 | 5156 | PDGFRA | umls:C0346421 | BeFree | In conclusion, S116836 is active against WT and T674I FIP1L1-PDGFRα-expressing cells, and may be a prospective agent for the treatment of HES/CEL. | 0.134657861 | 2014 | PDGFRA | 4 | 54278380 | C | T |
| rs121908587 | 16645167 | 5156 | PDGFRA | umls:C0346421 | BeFree | FIP1L1-PDGFRA-positive patients with CEL respond to low-dose imatinib therapy, but resistance due to acquired T674I mutation has been observed. | 0.134657861 | 2006 | PDGFRA | 4 | 54278380 | C | T |
| rs121908587 | 25431951 | 25 | ABL1 | umls:C0346421 | BeFree | Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGFRα, which is homologous to the imatinib-resistant T315I mutation in BCR-ABL. | 0.001357209 | 2014 | PDGFRA | 4 | 54278380 | C | T |
| rs121908587 | 22447844 | 5156 | PDGFRA | umls:C0346421 | BeFree | The gate-keeper mutations T674I platelet-derived growth factor receptor α (PDGFRα) in hypereosinophilic syndrome (HES) and T315I Bcr-Abl in chronic myeloid leukemia (CML) are resistant to imatinib and the second-generation small-molecule tyrosine kinase inhibitors (TKI). | 0.134657861 | 2012 | PDGFRA | 4 | 54278380 | C | T |
| rs121908587 | 16645167 | 81608 | FIP1L1 | umls:C0346421 | BeFree | FIP1L1-PDGFRA-positive patients with CEL respond to low-dose imatinib therapy, but resistance due to acquired T674I mutation has been observed. | 0.134386419 | 2006 | PDGFRA | 4 | 54278380 | C | T |
| rs121913459 | 25431951 | 25 | ABL1 | umls:C0346421 | BeFree | Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGFRα, which is homologous to the imatinib-resistant T315I mutation in BCR-ABL. | 0.001357209 | 2014 | ABL1 | 9 | 130872896 | C | T |
| rs121913507 | 17628645 | 3815 | KIT | umls:C0346421 | BeFree | The broad and overlapping clinical manifestations of D816V KIT-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia (CEL), coupled with the increase in activated eosinophils and mast cells seen in both disorders, have led to confusion in the nomenclature. | 0.001357209 | 2007 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 17628645 | 81608 | FIP1L1 | umls:C0346421 | BeFree | KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia are distinct entities. | 0.134386419 | 2007 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 22449623 | 3815 | KIT | umls:C0346421 | BeFree | The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions resulting in systemic mastocytosis (SM) and chronic eosinophilic leukemia, respectively. | 0.001357209 | 2012 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 22449623 | 81608 | FIP1L1 | umls:C0346421 | BeFree | The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions resulting in systemic mastocytosis (SM) and chronic eosinophilic leukemia, respectively. | 0.134386419 | 2012 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 22449623 | 5156 | PDGFRA | umls:C0346421 | BeFree | The dysregulated tyrosine kinases, D816V KIT and FIP1L1-PDGFRA, are the prototypic oncogenic lesions resulting in systemic mastocytosis (SM) and chronic eosinophilic leukemia, respectively. | 0.134657861 | 2012 | KIT | 4 | 54733155 | A | T |
| rs3822214 | 25015329 | 3815 | KIT | umls:C0346421 | BeFree | We investigated the presence of KIT(M541L) in five males with chronic eosinophilic leukemia, not otherwise specified (CEL, NOS), all negative for Platelet-derived growth factor-alpha (PDGFR) or PDGFRbeta abnormalities, which responded to imatinib therapy. | 0.001357209 | 2015 | KIT | 4 | 54727298 | A | C,G |
| rs386626619 | 15860661 | 3717 | JAK2 | umls:C0346421 | BeFree | Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)--was screened for the JAK2 V617F mutation. | 0.001085767 | 2005 | NA | NA | NA | NA | NA |
| rs77375493 | 15860661 | 3717 | JAK2 | umls:C0346421 | BeFree | Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)--was screened for the JAK2 V617F mutation. | 0.001085767 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (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.) |
| Disease ID | 1510 |
|---|---|
| Disease | chronic eosinophilic leukemia |
| Case | (Waiting for update.) |