Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 4 |
| OrphanetNr: | 98849 |
| OMIM Id: |
|
| ICD-10: |
C96.2 |
| UMLs: |
C1301365 |
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
397015000 397357000 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Systemic mastocytosis
-Rare hematologic disease -Rare oncologic disease |
Symptom Information:
|
|
(HPO:0100495) | Mastocytosis | Very frequent [Orphanet] | 14 / 7739 | |||
|
|
(HPO:0002488) | Acute leukemia | Very frequent [Orphanet] | 29 / 7739 | |||
|
|
(HPO:0001909) | Leukemia | Very frequent [Orphanet] | 46 / 7739 | |||
|
|
(HPO:0001879) | Abnormality of eosinophils | Very frequent [Orphanet] | 20 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|