ORPHA:521

Chronic myeloid leukemia

Synonyms: CML · Chronic granulocytic leukemia · Chronic myelogenous leukemia

Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Chronic myeloid leukemia	CML · Chronic granulocytic leukemia · Chronic myelogenous leukemia
fr	Leucémie myéloïde chronique	LMC · Leucémie granulocytique chronique · Leucémie myélogène chronique
de	Leukämie, chronische myeloische	CML · Leukämie, chronische granulozytäre · Leukämie, chronische myelogene
es	Leucemia mieloide crónica	LMC · Leucemia granulocítica crónica · Leucemia mielógena crónica
it	Leucemia mieloide cronica	CML · Leucemia granulocitica cronica · Leucemia mielogena cronica
nl	Chronische myeloïde leukemie	CML · Chronische granulocytaire leukemie · Chronische myelogene leukemie
pt	Leucemia mielóide crónica
pl	Przewlekła białaczka szpikowa	Przewlekła białaczka granulocytowa · Przewlekła białaczka mielogeniczna
cs	Chronická myeloidní leukémie	CML · Chronická granulocytická leukémie · Chronická myelogenní leukémie
uk	Хронічна мієлоїдна лейкемія	Хронічна гранулоцитарна лейкемія · Хронічна мієлогенна лейкемія · CML
zh	慢性髓系白血病	慢性粒细胞白血病
tr	Kronik miyeloid lösemi	CML · Kronik miyelojen lösemi · Kronik granülositik lösemi

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	608232	E		validated
ICD-10	C92.1	E	specific	validated
ICD-11	2B33.2	E	specific	validated
ICD-11	XH4XG8	E	specific	validated
MONDO	0011996	E		validated
MONDO	11996	E		validated
UMLS	C0279543	E		validated
GARD	6105	E		validated
MedDRA	10009013	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:98274Myeloproliferative neoplasm
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders

No children.

3 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
RUNX1	Biomarker tested in	Assessed	HGNC:10471	ENSG00000159216	151385	21q22.12	RUNX family transcription factor 1	22318203[PMID]
ABL1	Part of a fusion gene in	Assessed	HGNC:76	ENSG00000097007	189980	9q34.12	ABL proto-oncogene 1, non-receptor tyrosine kinase
BCR	Part of a fusion gene in	Assessed	HGNC:1014	ENSG00000186716	151410	22q11.23	BCR activator of RhoGEF and GTPase

5 records

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	1-9 / 100 000	1.25 / 100 000	France	Value and class	Validated	OTHERitut National du Cancer 2013[OTHER]
Point prevalence	1-9 / 100 000	6 / 100 000	Europe	Value and class	Validated	22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]
Lifetime Prevalence	1-9 / 100 000	5.63 / 100 000	Europe	Value and class	Validated	22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]
Annual incidence	1-9 / 100 000	1.25 / 100 000	Europe	Value and class	Validated	22033323[PMID]_RARECARE surveillance of rare cancers in Europe[OTHER]
Annual incidence	1-9 / 100 000	1.7 / 100 000	United States	Value and class	Validated	SEER Surveillance Epidemiology and End Results Program 2008-2012[OTHER]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

11 annotations · validated 2017-02-06

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0005547	Myeloproliferative disorder
Frequent (79-30%)
HP:0001912	Abnormality of basophils
HP:0001871	Abnormality of blood and blood-forming tissues
HP:0001911	Abnormality of granulocytes
HP:0012378	Fatigue
HP:0001945	Fever
HP:0001974	Increased total leukocyte count
HP:0004396	Poor appetite
HP:0001744	Splenomegaly
HP:0001873	Thrombocytopenia
HP:0001894	Thrombocytosis

Annotation source: 23125546[PMID]