eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hypereosinophilic syndrome | ||||
| Disease ID | 541 |
|---|---|
| Disease | hypereosinophilic syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:33) C2240374 | eosinophilia C1963274 | vasculitis C1963135 | hepatic necrosis C1963101 | encephalopathy C1963079 | restrictive cardiomyopathy C1959600 | endomyocardial fibrosis C1521999 | acute myocardial infarction C1393529 | vascular complications C0948441 | veno-occlusive disease C0919725 | digital necrosis C0856761 | budd-chiari syndrome C0748159 | pulmonary involvement C0745091 | hypereosinophilia C0743125 | insulin-resistant diabetes mellitus C0743039 | progressive dementia C0340708 | deep vein thrombosis C0272194 | secondary eosinophilia C0267448 | eosinophilic colitis C0264834 | loffler's endocarditis C0264666 | endomyocardial disease C0263357 | erythema gyratum repens C0206143 | loeffler's endocarditis C0155773 | portal vein thrombosis C0152025 | polyneuropathy C0151788 | eosinophilic myocarditis C0149871 | deep venous thrombosis C0032463 | polycythemia vera C0031117 | peripheral neuropathy C0030805 | bullous pemphigoid C0019189 | chronic hepatitis C0016522 | patent foramen ovale C0008313 | sclerosing cholangitis C0007193 | dilated cardiomyopathy |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:8) C0040053 | thrombosis | 3 C0206143 | loeffler's endocarditis | 2 C0014457 | eosinophilia | 2 C0042384 | vasculitis | 1 C0151788 | eosinophilic myocarditis | 1 C0553980 | endomyocardial fibrosis | 1 C0856761 | budd-chiari syndrome | 1 C0017665 | membranous glomerulopathy | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:16) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908587 | 22447844 | 5156 | PDGFRA | umls:C0206141 | 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). | 0.009771907 | 2012 | PDGFRA | 4 | 54278380 | C | T |
| rs121908587 | 25431951 | 5156 | PDGFRA | umls:C0206141 | 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. | 0.009771907 | 2014 | PDGFRA | 4 | 54278380 | C | T |
| rs121908587 | 25431951 | 25 | ABL1 | umls:C1540912 | 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. | 0.000271442 | 2014 | PDGFRA | 4 | 54278380 | C | T |
| rs121908587 | 22447844 | 5156 | PDGFRA | umls:C1540912 | 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). | 0.145303683 | 2012 | PDGFRA | 4 | 54278380 | C | T |
| rs121908587 | 25431951 | 5156 | PDGFRA | umls:C1540912 | 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. | 0.145303683 | 2014 | PDGFRA | 4 | 54278380 | C | T |
| rs121908587 | 25431951 | 25 | ABL1 | umls:C0206141 | 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. | 0.000542884 | 2014 | PDGFRA | 4 | 54278380 | C | T |
| rs121913459 | 25431951 | 25 | ABL1 | umls:C1540912 | 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. | 0.000271442 | 2014 | ABL1 | 9 | 130872896 | C | T |
| rs121913459 | 25431951 | 25 | ABL1 | umls:C0206141 | 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. | 0.000542884 | 2014 | ABL1 | 9 | 130872896 | C | T |
| rs386626619 | 15860661 | 3717 | JAK2 | umls:C0206141 | 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. | 0.000542884 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 15860661 | 3717 | JAK2 | umls:C1540912 | 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. | 0.000542884 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 18024388 | 3717 | JAK2 | umls:C1540912 | BeFree | The JAK2 V617F point mutation is very rare in hypereosinophilic syndrome and/or chronic eosinophilic leukemia. | 0.000542884 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 18024388 | 3717 | JAK2 | umls:C0206141 | BeFree | The JAK2 V617F point mutation is very rare in hypereosinophilic syndrome and/or chronic eosinophilic leukemia. | 0.000542884 | 2007 | NA | NA | NA | NA | NA |
| rs77375493 | 18024388 | 3717 | JAK2 | umls:C1540912 | BeFree | The JAK2 V617F point mutation is very rare in hypereosinophilic syndrome and/or chronic eosinophilic leukemia. | 0.000542884 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 18024388 | 3717 | JAK2 | umls:C0206141 | BeFree | The JAK2 V617F point mutation is very rare in hypereosinophilic syndrome and/or chronic eosinophilic leukemia. | 0.000542884 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 15860661 | 3717 | JAK2 | umls:C1540912 | 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. | 0.000542884 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 15860661 | 3717 | JAK2 | umls:C0206141 | 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. | 0.000542884 | 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000707 | Abnormality of the nervous system | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0006685 | Endocardial fibrosis | MP:0011749 | perivascular fibrosis | invasion of fibrous connective tissue into the perivascular tissue, often resulting from inflammation or injury |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001880 | Eosinophilia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001723 | Restrictive cardiomyopathy | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0004936 | Venous thrombosis | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0000707 | Abnormality of the nervous system | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006685 | Endocardial fibrosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002113 | Pulmonary infiltrates | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0005547 | Myeloproliferative disorder | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 541 |
|---|---|
| Disease | hypereosinophilic syndrome |
| Case | (Waiting for update.) |