Mast cell leukemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A very rare malignant systemic mastocytosis (SM) characterized by a huge infiltration of bone marrow, and often of blood, by abnormal mast cells (MC) which frequently manifests with organ dysfunction (liver, spleen, peritoneum, bones, and marrow).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mast cell leukemia | |
| fr | Leucémie à mastocytes | Leucémie mastocytaire |
| de | Mastzell-Leukämie | |
| es | Leucemia mastocitaria | |
| it | Leucemia mastocitaria | |
| nl | Mestcelleukemie | |
| pt | Leucemia de mastócitos | |
| pl | Białaczka mastocytowa | |
| cs | Leukémie z žírných buněk | |
| uk | Мастоцитарна лейкемія | |
| zh | 肥大细胞白血病 | |
| tr | Mast hücreli lösemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C94.3 | E | specific | validated |
| ICD-11 | 2A21.00 | E | specific | validated |
| MONDO | 0020334 | E | validated | |
| MeSH | D007946 | E | validated | |
| UMLS | C0023461 | E | validated | |
| MedDRA | 10056450 | 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:2467Systemic mastocytosis
rare hematological diseases; rare neoplastic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:158796OBSOLETE: Classic mast cell leukemia referred to · inactive
- ORPHA:158799OBSOLETE: Aleukemic mast cell leukemia referred to · inactive
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| KIT | ORPHA:566393Acute mast cell leukemia | Disease-causing germline mutation(s) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | 25729733[PMID]_22324351[PMID] |
| KIT | ORPHA:566396Chronic mast cell leukemia | Disease-causing germline mutation(s) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase | 25729733[PMID]_22324351[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Annual incidence | <1 / 1 000 000 | — | Europe | Class only | Validated | RARECARE surveillance of rare cancers in Europe[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98851
- This record as JSON: /data/d/98851.json