PedAM
Pediatric Disease Annotations & Medicines
| chronic myelomonocytic leukemia | ||||
| Disease ID | 328 |
|---|---|
| Disease | chronic myelomonocytic leukemia |
| Definition | A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. |
| Synonym | [m]chronic myelomonocytic leukaemia [m]chronic myelomonocytic leukemia chronic myelomonocytic leukaemia chronic myelomonocytic leukaemia -retired- chronic myelomonocytic leukaemia in transformation [obs] chronic myelomonocytic leukemia (disorder) chronic myelomonocytic leukemia (morphologic abnormality) chronic myelomonocytic leukemia -retired- chronic myelomonocytic leukemia [dup] (disorder) chronic myelomonocytic leukemia in transformation [obs] chronic myelomonocytic leukemias cmml cmml - chronic myelomonocytic leukaemia cmml - chronic myelomonocytic leukemia leukemia, chronic myelomonocytic leukemia, myelomonocytic, chronic leukemia, myelomonocytic, chronic [disease/finding] leukemias, chronic myelomonocytic myelomonocytic leukemia, chronic myelomonocytic leukemias, chronic |
| Orphanet | |
| UMLS | C0023480 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:16) C0023470 | myeloid leukemia | 4 C0024899 | mastocytosis | 4 C0023418 | leukemia | 4 C0040034 | thrombocytopenia | 3 C0023467 | acute myeloid leukemia | 3 C0221013 | systemic mastocytosis | 3 C0019618 | histiocytosis | 2 C0003537 | aphasia | 1 C0026985 | myelodysplasia | 1 C0021053 | immune disorder | 1 C0026896 | myasthenia gravis | 1 C0272286 | immune thrombocytopenia | 1 C1136085 | monoclonal gammopathy | 1 C0019621 | langerhans cell histiocytosis | 1 C1136033 | cutaneous mastocytosis | 1 C0021053 | immune disorders | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:14) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 328 |
|---|---|
| Disease | chronic myelomonocytic leukemia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:16) HP:0100495 | Mastocytosis | 4 HP:0012324 | Myeloid leukemia | 4 HP:0001909 | Leukemia | 4 HP:0001873 | Low platelet count | 3 HP:0004808 | Acute myelogenous leukemia | 3 HP:0100727 | Histiocytosis | 2 HP:0001973 | Autoimmune thrombocytopenia | 1 HP:0002381 | Aphasia | 1 HP:0200151 | Cutaneous mastocytosis | 1 HP:0002863 | Myelodysplastic syndrome | 1 HP:0002960 | Autoimmune condition | 1 HP:0003473 | Fatigable weakness | 1 HP:0002664 | Neoplasia | 1 HP:0001744 | Splenomegaly | 1 HP:0001114 | Fatty deposits on eyelids | 1 HP:0002427 | Loss of expressive speech | 1 |
| Disease ID | 328 |
|---|---|
| Disease | chronic myelomonocytic leukemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:29) C2240374 | eosinophilia C2073625 | pleural effusion C1963274 | vasculitis C1562454 | peripheral keratitis C1333098 | sarcoma of the colon C1253937 | pericardial effusion C0877221 | erythroblastopenia C0796095 | c syndrome C0302314 | xanthomas C0263338 | chronic urticaria C0262988 | cutaneous vasculitis C0235896 | pulmonary infiltration C0221013 | systemic mastocytosis C0079772 | t cell lymphoma C0037284 | skin lesions C0035085 | renal infarction C0034902 | pure red cell aplasia C0030312 | pancytopenia C0028326 | noonan syndrome C0026948 | mycosis fungoides C0024299 | lymphoma C0023467 | acute myeloid leukemia C0020541 | portal hypertension C0019156 | veno-occlusive disease of the liver C0008626 | chromosomal abnormality C0007177 | pericardial tamponade C0007177 | cardiac tamponade C0005779 | coagulopathy C0002880 | autoimmune hemolytic anemia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining 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 |
| rs386626619 | 19474426 | 54790 | TET2 | umls:C0023480 | BeFree | TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (19%), in 24 of 198 patients with myeloproliferative disorders (12%) (with or without the JAK2 V617F mutation), in 5 of 21 patients with secondary AML (24%), and in 2 of 9 patients with chronic myelomonocytic leukemia (22%). | 0.020325803 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17050076 | 3717 | JAK2 | umls:C0023480 | BeFree | At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-ras-2, or N-ras were not acquired, and only 1 (6%) of 17 evaluable cases showed cytogenetic progression. | 0.012811307 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 15860661 | 3717 | JAK2 | umls:C0023480 | BeFree | Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. | 0.012811307 | 2005 | NA | NA | NA | NA | NA |
| rs386626619 | 19474426 | 3717 | JAK2 | umls:C0023480 | BeFree | TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (19%), in 24 of 198 patients with myeloproliferative disorders (12%) (with or without the JAK2 V617F mutation), in 5 of 21 patients with secondary AML (24%), and in 2 of 9 patients with chronic myelomonocytic leukemia (22%). | 0.012811307 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 21658659 | 3717 | JAK2 | umls:C0023480 | BeFree | JAK2 V617F mutation was detected after transformation to CMML in 1 of them; in the other, a novel translocation t(5;12)(p13;q24) was observed at the time of progression to acute leukemia. | 0.012811307 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 19734476 | 3717 | JAK2 | umls:C0023480 | BeFree | The results indicate that JAK2(V617F) mutation is associated with clinical and morphological features of the myeloproliferative type of CMML. | 0.012811307 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17050076 | 2322 | FLT3 | umls:C0023480 | BeFree | At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-ras-2, or N-ras were not acquired, and only 1 (6%) of 17 evaluable cases showed cytogenetic progression. | 0.006091273 | 2006 | NA | NA | NA | NA | NA |
| rs77375493 | 17050076 | 2322 | FLT3 | umls:C0023480 | BeFree | At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-ras-2, or N-ras were not acquired, and only 1 (6%) of 17 evaluable cases showed cytogenetic progression. | 0.006091273 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 15860661 | 3717 | JAK2 | umls:C0023480 | BeFree | Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. | 0.012811307 | 2005 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19474426 | 54790 | TET2 | umls:C0023480 | BeFree | TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (19%), in 24 of 198 patients with myeloproliferative disorders (12%) (with or without the JAK2 V617F mutation), in 5 of 21 patients with secondary AML (24%), and in 2 of 9 patients with chronic myelomonocytic leukemia (22%). | 0.020325803 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 21658659 | 3717 | JAK2 | umls:C0023480 | BeFree | JAK2 V617F mutation was detected after transformation to CMML in 1 of them; in the other, a novel translocation t(5;12)(p13;q24) was observed at the time of progression to acute leukemia. | 0.012811307 | 2011 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19474426 | 3717 | JAK2 | umls:C0023480 | BeFree | TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (19%), in 24 of 198 patients with myeloproliferative disorders (12%) (with or without the JAK2 V617F mutation), in 5 of 21 patients with secondary AML (24%), and in 2 of 9 patients with chronic myelomonocytic leukemia (22%). | 0.012811307 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17050076 | 3717 | JAK2 | umls:C0023480 | BeFree | At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-ras-2, or N-ras were not acquired, and only 1 (6%) of 17 evaluable cases showed cytogenetic progression. | 0.012811307 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19734476 | 3717 | JAK2 | umls:C0023480 | BeFree | The results indicate that JAK2(V617F) mutation is associated with clinical and morphological features of the myeloproliferative type of CMML. | 0.012811307 | 2009 | 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) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:4) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0023480 | amifostine | D004999 | 20537-88-6 | leukemia, myelomonocytic, chronic | MESH:D015477 | therapeutic | 10688811 | ||
| C0023480 | ciprofloxacin | D002939 | 85721-33-1 | leukemia, myelomonocytic, chronic | MESH:D015477 | therapeutic | 10688811 | ||
| C0023480 | decitabine | C014347 | 2353-33-5 | leukemia, myelomonocytic, chronic | MESH:D015477 | therapeutic | 18055864 | ||
| C0023480 | vincristine | D014750 | - | leukemia, myelomonocytic, chronic | MESH:D015477 | therapeutic | 15981233 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |