PedAM

Pediatric Disease Annotations & Medicines


	atypical chronic myeloid leukemia

Disease ID	513
Disease	atypical chronic myeloid leukemia
Definition	A myelodysplastic/myeloproliferative disorder characterized by myelodysplasia associated with bone marrow and peripheral blood patterns similar to CHRONIC MYELOID LEUKEMIA, but cytogenetically lacking a PHILADELPHIA CHROMOSOME or bcr/abl fusion gene (GENES, ABL).
Synonym	[m]subacute myeloid leukaemia [m]subacute myeloid leukaemia (disorder) [m]subacute myeloid leukemia [m]subacute myeloid leukemia (morphologic abnormality) acml atypical chronic myeloid leukaemia atypical chronic myeloid leukaemia, bcr/abl negative atypical chronic myeloid leukaemia, philadelphia chromosome (ph1) negative atypical chronic myeloid leukemia (disorder) atypical chronic myeloid leukemia, bcr-abl1 negative atypical chronic myeloid leukemia, bcr/abl negative atypical chronic myeloid leukemia, bcr/abl negative (morphologic abnormality) atypical chronic myeloid leukemia, philadelphia chromosome (ph1) negative atypical cml chronic myeloid leukemia, atypical leukemia phila neg leukemia, chronic myeloid, atypical leukemia, myelogenous, ph1 negative leukemia, myelogenous, ph1-negative leukemia, myeloid, chronic, atypical leukemia, myeloid, chronic, atypical, bcr-abl negative leukemia, myeloid, chronic, atypical, bcr-abl negative [disease/finding] leukemia, myeloid, ph1 negative leukemia, myeloid, ph1-negative leukemia, myeloid, philadelphia negative leukemia, myeloid, philadelphia-negative leukemia, ph1-negative myelogenous leukemia, ph1-negative myeloid leukemia, philadelphia-negative myeloid leukemias, ph1-negative myelogenous leukemias, ph1-negative myeloid leukemias, philadelphia-negative myeloid myelogenous leukemia, ph1 negative myelogenous leukemia, ph1-negative myelogenous leukemias, ph1-negative myeloid leukemia, ph1 negative myeloid leukemia, ph1-negative myeloid leukemia, philadelphia negative myeloid leukemia, philadelphia-negative myeloid leukemia, subacute myeloid leukemias, ph1-negative myeloid leukemias, philadelphia-negative ph1-negative myelogenous leukemia ph1-negative myelogenous leukemias ph1-negative myeloid leukemia ph1-negative myeloid leukemias philadelphia-negative myelogenous leukemia philadelphia-negative myeloid leukemia philadelphia-negative myeloid leukemias subacute granulocytic leukaemia [obs] subacute granulocytic leukemia subacute granulocytic leukemia [obs] subacute monocytic leukaemia [obs] subacute monocytic leukemia [obs] subacute myelogenous leukaemia [obs] subacute myelogenous leukemia subacute myelogenous leukemia [obs] subacute myeloid leukaemia subacute myeloid leukaemia -retired- subacute myeloid leukaemia [obs] subacute myeloid leukemia subacute myeloid leukemia (disorder) subacute myeloid leukemia (morphologic abnormality) subacute myeloid leukemia -retired- subacute myeloid leukemia [obs]
Orphanet	ORPHANET:98824
DOID	DOID:8747
UMLS	C1292772
MeSH	D054438
SNOMED-CT	SNOMEDCT_US_2016_09_01:277589003;SNOMEDCT_US_2016_09_01:188736006
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) SETBP1 \| 26040 \| CTD_human CSF3R \| 1441 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:82) 27248 \| ERLEC1 \| DISEASES 27248 \| ERLEC1 \| DISEASES 266 \| AMELY \| DISEASES 4353 \| MPO \| DISEASES 1440 \| CSF3 \| DISEASES 1440 \| CSF3 \| DISEASES 5917 \| RARS \| DISEASES 5917 \| RARS \| DISEASES 2322 \| FLT3 \| DISEASES 2322 \| FLT3 \| DISEASES 8572 \| PDLIM4 \| DISEASES 8572 \| PDLIM4 \| DISEASES 5156 \| PDGFRA \| DISEASES 5156 \| PDGFRA \| DISEASES 5159 \| PDGFRB \| DISEASES 1770 \| DNAH9 \| DISEASES 10156 \| RASA4 \| DISEASES 8030 \| CCDC6 \| DISEASES 27125 \| AFF4 \| DISEASES 27125 \| AFF4 \| DISEASES 55500 \| ETNK1 \| DISEASES 26040 \| SETBP1 \| DISEASES 8714 \| ABCC3 \| DISEASES 2776 \| GNAQ \| DISEASES 3815 \| KIT \| DISEASES 3815 \| KIT \| DISEASES 539 \| ATP5O \| DISEASES 7307 \| U2AF1 \| DISEASES 10461 \| MERTK \| DISEASES 6259 \| RYK \| DISEASES 3562 \| IL3 \| DISEASES 290 \| ANPEP \| DISEASES 861 \| RUNX1 \| DISEASES 861 \| RUNX1 \| DISEASES 2125 \| EVPL \| DISEASES 613 \| BCR \| DISEASES 613 \| BCR \| DISEASES 3265 \| HRAS \| DISEASES 4928 \| NUP98 \| DISEASES 811 \| CALR \| DISEASES 3563 \| IL3RA \| DISEASES 2811 \| GP1BA \| DISEASES 6900 \| CNTN2 \| DISEASES 23451 \| SF3B1 \| DISEASES 81608 \| FIP1L1 \| DISEASES 5781 \| PTPN11 \| DISEASES 5781 \| PTPN11 \| DISEASES 3716 \| JAK1 \| DISEASES 3716 \| JAK1 \| DISEASES 3205 \| HOXA9 \| DISEASES 6711 \| SPTBN1 \| DISEASES 122773 \| KLHDC1 \| DISEASES 6427 \| SRSF2 \| DISEASES 722 \| C4BPA \| DISEASES 722 \| C4BPA \| DISEASES 4893 \| NRAS \| DISEASES 4893 \| NRAS \| DISEASES 5236 \| PGM1 \| DISEASES 51361 \| HOOK1 \| DISEASES 8813 \| DPM1 \| DISEASES 25 \| ABL1 \| DISEASES 25 \| ABL1 \| DISEASES 1441 \| CSF3R \| DISEASES 1441 \| CSF3R \| DISEASES 2159 \| F10 \| DISEASES 171023 \| ASXL1 \| DISEASES 116085 \| SLC22A12 \| DISEASES 7403 \| KDM6A \| DISEASES 4093 \| SMAD9 \| DISEASES 54790 \| TET2 \| DISEASES 54790 \| TET2 \| DISEASES 54875 \| CNTLN \| DISEASES 265 \| AMELX \| DISEASES 3717 \| JAK2 \| DISEASES 3717 \| JAK2 \| DISEASES 10188 \| TNK2 \| DISEASES 10188 \| TNK2 \| DISEASES 7158 \| TP53BP1 \| DISEASES 7750 \| ZMYM2 \| DISEASES 2120 \| ETV6 \| DISEASES 2260 \| FGFR1 \| DISEASES 2260 \| FGFR1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) CSF3R \| 1p34.3

Disease ID	513
Disease	atypical chronic myeloid leukemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	513
Disease	atypical chronic myeloid leukemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0795851 \| trisomy 14
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs386626619	18555525	3717	JAK2	umls:C1292772	BeFree	Atypical chronic myeloid leukemia as defined in the WHO classification is a JAK2 V617F negative neoplasm.	0.006263026	2008	NA	NA	NA	NA	NA
rs77375493	18555525	3717	JAK2	umls:C1292772	BeFree	Atypical chronic myeloid leukemia as defined in the WHO classification is a JAK2 V617F negative neoplasm.	0.006263026	2008	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:2)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C1292772	busulfan	D002066	55-98-1	leukemia, myeloid, chronic, atypical, bcr-abl negative	MESH:D054438	therapeutic	1349249
C1292772	cyclophosphamide	D003520	50-18-0	leukemia, myeloid, chronic, atypical, bcr-abl negative	MESH:D054438	therapeutic	1349249

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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