Chronic myelomonocytic leukemia
Synonyms: CMML
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare myelodysplastic/myeloproliferative neoplasm characterized by a spectrum of clinical, hematological, and morphological features, ranging from predominantly myelodysplastic to mainly myeloproliferative in nature, with blood monocytosis (> 1G/L, constituting > 10% of circulating leukocytes). Is it often associated with blood cytopenia and/or ''proliferative features'' (increased leukocyte counts, splenomegaly), with marrow dysplasia and risk of progression to acute myeloid leukemia (AML).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic myelomonocytic leukemia | CMML |
| fr | Leucémie myélomonocytaire chronique | LMMC · Syndrome myélomonocytaire chronique |
| de | Leukämie, chronische myelomonozytäre | = en |
| es | Leucemia mielomonocítica crónica | LMMC |
| it | Leucemia mielomonocitica cronica | |
| nl | Chronische myelomonocytaire leukemie | = en |
| pt | Leucemia mielomonocítica crónica | |
| pl | Przewlekła białaczka mielomonocytowa | = en |
| cs | Chronická myelomonocytická leukémie | = en |
| uk | Хронічна мієломоноцитарна лейкемія | = en |
| zh | 慢性粒-单核细胞白血病 | = en |
| tr | Kronik miyelomonositik lösemi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C93.1 | E | specific | validated |
| ICD-11 | 2A40 | E | specific | validated |
| MONDO | 0020311 | E | validated | |
| MeSH | D015477 | E | validated | |
| UMLS | C0023480 | E | validated | |
| GARD | 8225 | E | validated | |
| MedDRA | 10009018 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98275Myelodysplastic/myeloproliferative disease
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ASXL1 | Candidate gene tested in | Not yet assessed | HGNC:18318 | ENSG00000171456 | 612990 | 20q11.21 | ASXL transcriptional regulator 1 | 31723789[PMID] |
| SRSF2 | Candidate gene tested in | Not yet assessed | HGNC:10783 | ENSG00000161547 | 600813 | 17q25.2 | serine and arginine rich splicing factor 2 | 31723789[PMID] |
| ETV6 | Part of a fusion gene in | Assessed | HGNC:3495 | ENSG00000139083 | 600618 | 12p13.2 | ETS variant transcription factor 6 | 8168137[PMID]_7742547[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.68 / 100 000 | Worldwide | Value and class | Validated | 30690330[PMID]_32501529[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98823
- This record as JSON: /data/d/98823.json