ORPHA:158775
Smoldering systemic mastocytosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Unknown
- Age of onset
- Adult, Elderly
- Status
- active
A rare, slowly progressive form of systemic mastocytosis (SM) characterized by gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with splenomegaly, hypercellular marrow and, in most cases, urticaria pigmentosa-like skin lesions.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Smoldering systemic mastocytosis | |
| fr | Mastocytose systémique type smoldering | |
| de | Schwelende systemische Mastozytose | |
| es | Mastocitosis sistémica latente | Mastocitosis sistémica "smouldering" · Mastocitosis sistémica quiescente |
| it | Mastocitosi sistemica intermedia | |
| nl | Smeulende systemische mastocytose | |
| pt | Mastocitose sistémica do lactente | |
| pl | Tląca się mastocytoza układowa | |
| cs | Doutnající systémová mastocytóza | |
| uk | Тліючий системний мастоцитоз | |
| zh | 郁积型全身肥大细胞增多症 | |
| tr | Yanan sistemik mastositoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D47.0 | NTBT | attributed | validated |
| ICD-11 | 2A21.0Y | NTBT | index | validated |
| MONDO | 0015557 | E | validated | |
| UMLS | C3897042 | E | validated | |
| MedDRA | 10089905 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2467Systemic mastocytosis
rare hematological diseases; rare neoplastic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIT | Disease-causing somatic mutation(s) in | Assessed | HGNC:6342 | ENSG00000157404 | 164920 | 4q12 | KIT proto-oncogene, receptor tyrosine kinase |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/158775
- This record as JSON: /data/d/158775.json