Chronic myeloid leukemia

General Information (adopted from Orphanet):

Synonyms, Signs: LEUKEMIA, CHRONIC MYELOGENOUS LEUKEMIA, CHRONIC MYELOID, ATYPICAL, INCLUDED
ACML, INCLUDED
CML
Chronic myelogenous leukemia
Chronic granulocytic leukemia
Number of Symptoms 7
OrphanetNr: 521
OMIM Id: 608232
ICD-10: C92.1
UMLs: C0023473
MeSH:
MedDRA: 10009013
Snomed: 63364005
92818009

Prevalence, inheritance and age of onset:

Prevalence: 6 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Myeloproliferative neoplasm
 -Rare hematologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
(HPO:0005506) Chronic myelogenous leukemia 3 / 7739
2
(HPO:0004848) Ph-positive acute lymphoblastic leukemia 1 / 7739
3
(OMIM) Detection by RT-PCR, Southern blot analysis, and FISH for primary diagnosis and follow up for residual disease 1 / 7739
4
(OMIM) Low leukocyte alkaline phosphatase activity 1 / 7739
5
(OMIM) Presence of the Philadelphia chromosome (translocation of 9q34 and 22q11) in greater than 95% of patients 1 / 7739
6
(OMIM) Two alternative chimeric oncogene products called p210(BCR-ABL) and p185(BCR-ABL) 1 / 7739
7
(HPO:0001428) Somatic mutation 100 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell with a specific cytogenetic abnormality, the Philadelphia chromosome (Ph), involving myeloid, erythroid, megakaryocytic, B lymphoid, and sometimes T lymphoid cells, but not marrow fibroblasts. ...
Molecular genetics OMIM - Associations with Drug Resistance

Clinical studies with the Abl tyrosine kinase inhibitor STI571 in CML demonstrated that many patients with advanced-stage disease respond initially but then relapse. Through biochemical and molecular analysis of clinical material, ...