Monoclonal mast cell activation syndrome
Synonyms: Primary MCAS · Clonal MCAS · Monoclonal MCAS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare hematologic disease characterized by symptoms of mast cell activation in the absence of cutaneous findings, as well as absence of diagnostic criteria of systemic mastocytosis with tryptase levels of less than 20 ng/ml and normal to low burden of mast cells. Bone marrow biopsy reveals the presence of monoclonal mast cells carrying the <i>KIT</i> D816V mutation and/or expressing CD25. Patients present with recurrent episodes of flushing, headache, hypotension, abdominal cramping, nausea, diarrhea, cardiac arrhythmias, bronchoconstriction, and bleeding diathesis, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Monoclonal mast cell activation syndrome | Primary MCAS · Clonal MCAS · Monoclonal MCAS |
| fr | Syndrome d'activation mastocytaire monoclonal | SAMA clonal · SAMA primaire |
| de | Mastzellaktivierungssyndrom, monoklonales | Monoklonales MCAS · MCAS, primär · MCAS, klonal |
| es | Síndrome de activación mastocitaria monoclonal | SAM monoclonal · SAM clonal · SAM primario |
| it | Sindrome da attivazione mastocitaria monoclonale | MCAS clonale · MCAS primaria · MCAS monoclonale |
| nl | Monoklonaal mestcelactivatiesyndroom | Primair MCAS · Klonaal MCAS · Monoklonaal MCAS |
| pt | Síndrome de activação mastocitária monoclonal | |
| pl | Zespół monoklonalnej aktywacji mastocytów | = en |
| cs | Syndrom aktivace monoklonálních žírných buněk | Monoklonální MCAD |
| uk | Синдром моноклональної активації тучних клітин | Моноклональний MCAD |
| zh | 单克隆肥大细胞激活综合征 | 单克隆肥大细胞激活障碍 |
| tr | Monoklonal mast hücre aktivasyon sendromu | Monoklonal MCAD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C94.3 | NTBT | attributed | validated |
| MONDO | 0033954 | E | validated | |
| UMLS | C4267893 | E | validated | |
| GARD | 12980 | 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:68347Tumor of hematopoietic and lymphoid tissues
rare hematological diseases; rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_24745674[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/529468
- This record as JSON: /data/d/529468.json