Indolent systemic mastocytosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare, usually benign, chronic, form of systemic mastocytosis (SM) characterized by an abnormal accumulation of neoplastic mast cells (MCs) mainly in the bone marrow (BM) but also in other organs or tissues such as preferably the skin.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Indolent systemic mastocytosis | |
| fr | Mastocytose systémique indolente | |
| de | Indolente systemische Mastozytose | |
| es | Mastocitosis sistémica indolente | |
| it | Mastocitosi sistemica indolente | |
| nl | Indolente systemische mastocytose | |
| pt | Mastocitose sistémica indolente | |
| pl | Mastocytoza układowa o powolnym przebiegu | |
| cs | Indolentní systémová mastocytóza | |
| uk | Мявий системний мастоцитоз | |
| zh | 惰性系统性肥大细胞增多症 | |
| tr | Ağrısız sistemik mastositoz |
Definition in:
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 |
| ICD-11 | XH2Y59 | E | specific | validated |
| MONDO | 0020331 | E | validated | |
| UMLS | C0272203 | E | validated | |
| MedDRA | 10056452 | 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
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 | 1-5 / 10 000 | — | Europe | Class only | Validated | ORPHANET |
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
21 annotations · validated 2021-06-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100494 | Abnormal mast cell morphology | |
| HP:0011121 | Abnormal skin morphology | |
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| HP:0031408 | Increased proportion of CD25+ mast cells | |
| HP:0100495 | Mastocytosis | |
| Frequent (79-30%) | ||
| HP:0032155 | Abdominal cramps | |
| HP:0012393 | Allergy | |
| HP:0025081 | Darier's sign | |
| HP:0031284 | Flushing | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0031901 | Increased serum mast cell beta-tryptase concentration | |
| HP:0040186 | Maculopapular exanthema | |
| HP:0000939 | Osteoporosis | |
| HP:0000989 | Pruritus | |
| HP:0000988 | Skin rash | |
| HP:0001025 | Urticaria | |
| Occasional (29-5%) | ||
| HP:0100845 | Anaphylactic shock | |
| Very rare (<4-1%) | ||
| HP:0002240 | Hepatomegaly | |
| HP:0002716 | Lymphadenopathy | |
| HP:0001744 | Splenomegaly | |
| Excluded (0%) | ||
| HP:0004377 | Hematological neoplasm | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 31985050[PMID]_32108361[PMID]_30536695[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98848
- This record as JSON: /data/d/98848.json